__RRH

5 Extensions and Modifi

of Basic Principles
ficcations __CT

• Was Mendel Wrong?

• Dominance Revisited
• Lethal Alleles
• Multiple Alleles
Duck-Feather Patterns
The ABO Blood Group
• Gene Interaction
Gene Interaction That Produces
Novel Phenotypes
Gene Interaction with Epistasis
The Complex Genetics of Coat Color
in Dogs

• The Interaction Between Sex and

Heredity
Sex-Influenced and Sex-Limited
Characteristics
Cytoplasmic Inheritance
Genetic Maternal Effects
Genomic Imprinting
This is Chapter 5 Opener photo legend to position here. (Nancy
Wexler, HDF/Neurology, Columbia University.)
• Anticipation
• Interaction Between Genes and
Environment
Environmental Effects on Gene
Expression
The Inheritance of Continuous
Characteristics

Was Mendel Wrong? Huntington disease appears with equal frequency

in males and females, rarely skips generations and, when
In 1872, a physician from Long Island, New York named one parent has the disorder, approximately half of the
George Huntington described a medical condition charac- children will be similarly affected. These are the hall-
terized by jerky, involuntary movements. Now known as marks of an autosomal dominant trait — with one excep-
Huntington disease, the condition typically appears in mid- tion. The disorder occasionally arises before the age of
dle age. The initial symptoms are subtle, consisting of mild 15 and, in these cases, progresses much more rapidly
behavioral and neurological changes; but, as the disease than it does when it arises in middle age. Among younger
progresses, speech is impaired, walking becomes difficult, patients, the trait is almost always inherited from the
and psychiatric problems develop that frequently lead to in- father. According to Mendel’s principles of heredity
sanity. Most people who have Huntington disease live for 10 (Chapter 3), males and females transmit autosomal traits
to 30 years after the disease begins; there is currently no with equal frequency, and reciprocal crosses should yield
cure or effective treatment. identical results; yet, for juvenile cases of Huntington

101
102 Chapter 5

(a) (b)

Huntington-
1 2 3 4 disease gene

FPO
Photo of
keryotypes
from fig 2.6
Centromere

Chromosome 4

◗ 5.1 The gene for Huntington disease. (a) James Gusella and
colleagues, whose research located the Huntington gene. (b) The gene has
been mapped to the tip of chromosome 4. (Part a, Sam Ogden; part b, left cour-
tesy of Dr. Thomas Ried and Dr. Evelin Schrock.)

disease, Mendel’s principles do not apply. Was Mendel was introduced in Chapter 4. In this chapter, we will exam-
wrong? ine a number of additional refinements of Mendel’s basic
In 1983, a molecular geneticist at Massachusetts General tenets. We begin by reviewing the concept of dominance,
Hospital named James Gusella determined that the gene emphasizing that dominance entails interactions between
causing Huntington disease is located near the tip of the genes at one locus (allelic genes) and affects the way in
short arm of chromosome 4. Gusella determined its location which genes are expressed in the phenotype. Next, we con-
by analyzing DNA from members of the largest known fam- sider lethal alleles and their effect on phenotypic ratios, fol-
ily with Huntington disease, about 7000 people who live lowed by a discussion of multiple alleles. We then turn to
near Lake Maracaibo in Venezuela, more than 100 of whom interaction among genes at different loci (nonallelic genes).
have Huntington disease. Many experts predicted that, with The phenotypic ratios produced by gene interaction are
the general location of the Huntington gene pinned down, related to the ratios encountered in Chapter 3. In the latter
the actual DNA sequence would be isolated within a few part of the chapter, we will consider ways in which sex
years. Despite intensive efforts, finding the gene took 10 interacts with heredity. Our last stop will be a discussion of
years. When it was finally isolated in the spring of 1993 environmental influences on gene expression.
( ◗ FIGURE 5.1), the gene turned out to be quite different The modifications and extensions of hereditary princi-
from any of those that code for the traits studied by Mendel. ples discussed in this chapter do not invalidate Mendel’s
The mutation that causes Huntington disease consists important contributions; rather, they enlarge our under-
of an unstable region of DNA capable of expanding and standing of heredity by building on the framework pro-
contracting as it is passed from generation to generation. vided by his principles of segregation and independent
When the region expands, Huntington disease results. The assortment. These modifications rarely alter the way in
degree of expansion affects the severity and age of onset of which the genes are inherited; rather, they affect the ways in
symptoms; the juvenile form of Huntington disease results which the genes determine the phenotype.
from rapid expansion of the region, which occurs primarily
when the gene is transmitted from father to offspring. www.whfreeman.com/pierce Additional information about
This genetic phenomenon — the earlier appearance of Huntington disease
a trait as it is passed from generation to generation — is
called anticipation. Like a number of other genetic phe-
nomena, anticipation does not adhere to Mendel’s princi-
Dominance Revisited
ples of heredity. This lack of adherence doesn’t mean that One of Mendel’s important contributions to the study of
Mendel was wrong; rather, it means that Mendel’s principles heredity is the concept of dominance — the idea that an
are not, by themselves, sufficient to explain the inheritance individual possesses two different alleles for a characteristic,
of all genetic characteristics. Our modern understanding of but the trait enclosed by only one of the alleles is observed in
genetics has been greatly enriched by the discovery of the phenotype. With dominance, the heterozygote possesses
a number of modifications and extensions of Mendel’s basic the same phenotype as one of the homozygotes. When biolo-
principles, which are the focus of this chapter. gists began to apply Mendel’s principles to organisms other
An important extension of Mendel’s principles of then peas, it quickly became apparent that many characteris-
heredity — the inheritance of sex -linked characteristics — tics do not exhibit this type of dominance. Indeed, Mendel
 Extensions and Modifications of Basic Principles 103

himself was aware that dominance is not universal, because Table 5.1 Differences between dominance,
he observed that a pea plant heterozygous for long and short incomplete dominance, and
flowering times had a flowering time that was intermediate codominance
between those of its homozygous parents. This situation, in
which the heterozygote is intermediate in phenotype between Type of Dominance Definition
the two homozygotes, is termed incomplete dominance. Dominance Phenotype of the
Dominance can be understood in regard to how the phe- heterozygote is the same as
notype of the heterozygote relates to the phenotypes of the the phenotype of one of the
homozygotes. In the example presented in ◗ FIGURE 5.2, homozygotes
flower color potentially ranges from red to white. One
Incomplete dominance Phenotype of the
homozygous genotype, A1A1, codes for red flowers, and
heterozygote is intermediate
another, A2A2, codes for white flowers. Where the heterozy-
(falls within the range)
gote falls on the range of phenotypes determines the type of
between the phenotypes of
dominance. If the heterozygote (A1A2) has flowers that are
the two homozygotes
the same color as those of the A1A1 homozygote (red), then
the A1 allele is completely dominant over the A2 allele; that Codominance Phenotype of the
is, red is dominant over white. If, on the other hand, the het- heterozygote includes the
erozygote has flowers that are the same color as the A2A2 phenotypes of both
homozygote (white), then the A2 allele is completely domi- homozygotes
nant, and white is dominant over red. When the heterozygote
falls in between the phenotypes of the two homozygotes,
dominance is incomplete. With incomplete dominance, the incomplete. The important thing to remember about domi-
heterozygote need not be exactly intermediate (pink in our nance is that it affects the phenotype that genes produce, but
example) between the two homozygotes; it might be a slightly not the way in which genes are inherited.
lighter shade of red or a slightly pink shade of white. As long Another type of interaction between alleles is codomi-
as the heterozygote’s phenotype can be differentiated and falls nance, in which the phenotype of the heterozygote is not
within the range of the two homozygotes, dominance is intermediate between the phenotypes of the homozygotes;
rather, the heterozygote simultaneously expresses the phe-
notypes of both homozygotes. An example of codominance
is seen in the MN blood types.
The MN locus codes for one of the types of antigens on
Complete
dominance
red blood cells. Unlike antigens foreign to the ABO and Rh
blood groups (which also code for red-blood-cell antigens),
Phenotypic range
foreign MN antigens do not elicit a strong immunological
1 A1A1 codes 2 A2A2 codes for reaction, and therefore the MN blood types are not routinely
for red flowers.
A1A1 A2A2
white flowers.
considered in blood transfusions. At the MN locus, there are
two alleles: the LM allele, which codes for the M antigen; and
Red White
dominant dominant
the LN allele, which codes for the N antigen. Homozygotes
with genotype LMLM express the M antigen on their red blood
A1A2 A1A2 cells and have the M blood type. Homozygotes with genotype
3 If the heterozygote is red, 4 If the heterozygote is white, LNLN express the N antigen and have the N blood type.
the A1 allele is dominant the A2 allele is dominant Heterozygotes with genotype LMLN exhibit codominance and
over the A2 allele. over the A1 allele. express both the M and the N antigens; they have blood type
MN. The differences between dominance, incomplete domi-
Incomplete nance, and codominance are summarized in Table 5.1.
dominance The type of dominance that a character exhibits fre-
quently depends on the level of the phenotype examined.
An example is cystic fibrosis, one of the more common
genetic disorders found in Caucasians and usually consid-
A1A2 ered to be a recessive disease. People who have cystic fibrosis
produce large quantities of thick, sticky mucus, which plugs
5 If the phenotype of the heterozygote falls
between the phenotypes of the two up the airways of the lungs and clogs the ducts leading from
homozygotes dominance is incomplete the pancreas to the intestine, causing frequent respiratory
◗ 5.2 The type of dominance exhibited by a trait infections and digestive problems. Even with medical treat-
depends on how the phenotype of the heterozygote ment, patients with cystic fibrosis suffer chronic, life-
relates to the phenotypes of the homozygotes. threatening medical problems.
104 Chapter 5

The gene responsible for cystic fibrosis resides on the

P generation
long arm of chromosome 7. It encodes a protein termed
Yellow Yellow
cystic fibrosis transmembrane conductance regulator, merci-
fully abbreviated CFTR, which acts as a gate in the cell 
membrane and regulates the movement of chloride ions Yy Yy
into and out of the cell. Patients with cystic fibrosis have
Meiosis
a mutated, dysfunctional form of CFTR that causes the
channel to stay closed, and so chloride ions build up in the
Gametes Y y Y y
cell. This buildup causes the formation of thick mucus and
produces the symptoms of the disease.
Fertilization
Most people have two copies of the normal allele for
CFTR, and produce only functional CFTR protein. Those
with cystic fibrosis possess two copies of the mutated CFTR F1 generatio
generation
allele, and produce only the defective CFTR protein. Het- Dead Yellow Nonyellow
erozygotes, with one normal and one defective CFTR allele,
produce both functional and defective CFTR protein. Thus,
1/4 YY 1/2Yy 1/4 yy
at the molecular level, the alleles for normal and defective
CFTR are codominant, because both alleles are expressed in Conclusion: YY mice die, and so
2/3 of progeny are Yy, yellow
the heterozygote. However, because one normal allele pro- 1/3 of progeny are yy, nonyellow
duces enough functional CFTR protein to allow normal
chloride transport, the heterozygote exhibits no adverse
effects, and the mutated CFTR allele appears to be recessive
◗ 5.3 A 2 : 1 ratio among the progeny of a cross
results from the segregation of a lethal allele.
at the physiological level.
In summary, several important characteristics of domi-
nance should be emphasized. First, dominance is a result of discussion about Cuenot’s results among his colleagues, but
interactions between genes at the same locus; in other it was eventually realized that the yellow allele must be
words, dominance is allelic interaction. Second, dominance lethal when homozygous ( ◗ FIGURE 5.3). A lethal allele is
does not alter the way in which the genes are inherited; it one that causes death at an early stage of development —
only influences the way in which they are expressed as often before birth — and so a some genetypes may not ap-
a phenotype. The allelic interaction that characterizes dom- pear among the progeny.
inance is therefore interaction between the products of the Cuenot originally crossed two mice heterozygous for
genes. Finally, dominance is frequently “in the eye of the yellow: Yy  Yy. Normally, this cross would be expected to
beholder,” meaning that the classification of dominance produce 14 YY, 12 Yy, and 14 yy (see Figure 5.3). The
depends on the level at which the phenotype is examined. homozygous YY mice are conceived but never complete
As we saw with cystic fibrosis, an allele may exhibit codomi- development, which leaves a 2 : 1 ratio of Yy (yellow) to
nance at one level and be recessive at another level. yy (nonyellow) in the observed offspring; all yellow mice are
heterozygous (Yy).
Another example of a lethal allele, originally described
Concepts by Erwin Baur in 1907, is found in snapdragons. The aurea
Dominance entails interactions between genes at strain in these plants has yellow leaves. When two plants
the same locus (allelic genes) and is an aspect of with yellow leaves are crossed, 23 of the progeny have yellow
the phenotype; dominance does not affect the way leaves and 13 have green leaves. When green is crossed with
in which genes are inherited. The type of domi- green, all the progeny have green leaves; however, when
nance exhibited by a characteristic frequently yellow is crossed with green, 12 of the progeny are green and
depends on the level of the phenotype examined.
1
2 are yellow, confirming that all yellow-leaved snapdragons
are heterozygous. A 2 : 1 ratio is almost always produced by
a recessive lethal allele; so observing this ratio among the
progeny of a cross between individuals with the same
Lethal Alleles phenotype is a strong clue that one of the alleles is lethal.
In 1905, Lucien Cuenot reported a peculiar pattern of In both of these examples, the lethal alleles are recessive
inheritance in mice. When he mated two yellow mice, because they cause death only in homozygotes. Unlike its
approximately 23 of their offspring were yellow and 13 were effect on survival, the effect of the allele on color is domi-
nonyellow. When he test-crossed the yellow mice, he found nant; in both mice and snapdragons, a single copy of the
that all were heterozygous; he was never able to obtain a allele in the heterozygote produces a yellow color. Lethal
yellow mouse that bred true. There was a great deal of alleles also can be dominant; in this case, homozygotes and
 Extensions and Modifications of Basic Principles 105

heterozygotes for the allele die. Truly dominant lethal alleles

P generation
cannot be transmitted unless they are expressed after the Restricted Mallard
onset of reproduction, as in Huntington disease.

Concepts 

A lethal allele causes death, frequently at an M Rm d Mm d

early developmental stage, and so one or more Meiosis
genotypes are missing from the progeny of a
cross. Lethal alleles may modify the ratio of Gametes M R md M md
progeny resulting from a cross.
Fertilization

Multiple Alleles
F1 generation
Most of the genetic systems that we have examined so far 1/2 Restricted Mallard Dusky
consist of two alleles. In Mendel’s peas, for instance, one
allele coded for round seeds and another for wrinkled seeds;
in cats, one allele produced a black coat and another pro-
duced a gray coat. For some loci, more than two alleles are
present within a group of individuals — the locus has mul- 1/4 M RM 1/4 M Rm d 1/4 Mm d 1/4 m dm d
tiple alleles. (Multiple alleles may also be referred to as an Conclusion: Progeny are 1/2 restricted,
allelic series.) Although there may be more than two alleles 1/4 mallard, and 1/4 dusky
present within a group, the genotype of each diploid indi-
vidual still consists of only two alleles. The inheritance of ◗ 5.4 Mendel’s principle of segregation applies to
characteristics encoded by multiple alleles is no different crosses with multiple alleles. In this example, three
from the inheritance of characteristics encoded by two alle- alleles determine the type of plumage in mallard ducks:
M R (Restricted)  M (Mallard)  m d (Dusky).
les, except that a greater variety of genotypes and pheno-
types are possible.

Duck-Feather Patterns The ABO Blood Group

An example of multiple alleles is seen at a locus that deter- Another multiple-allele system is at the locus for the ABO
mines the feather pattern of mallard ducks. One allele, M, blood group. This locus determines your ABO blood type
produces the wild-type mallard pattern. A second allele, MR, and, like the MN locus, codes for antigens on red blood
produces a different pattern called restricted, and a third cells. The three common alleles for the ABO blood group
allele, md, produces a pattern termed dusky. In this allelic locus are: IA, which codes for the A antigen; IB, which codes
series, restricted is dominant over mallard and dusky, and for the B antigen; and i, which codes for no antigen (O). We
mallard is dominant over dusky: M R  M  md. The six can represent the dominance relations among the ABO alle-
genotypes possible with these three alleles and their result- les as follows: IA  i, IB  i, IA  IB. The IA and IB alleles are
ing phenotypes are: both dominant over i and are codominant with each other;
the AB phenotype is due to the presence of an IA allele and
Genotype Phenotype an IB allele, which results in the production of A and B
MRMR restricted antigens on red blood cells. An individual with genotype ii
MRM restricted produces neither antigen and has blood type O. The six
MRmd restricted common genotypes at this locus and their phenotypes are
MM mallard shown in ◗ FIGURE 5.5a.
Mmd mallard Antibodies are produced against any foreign antigens (see
mdmd dusky Figure 5.5a). For instance, a person having blood type A pro-
duces B antibodies, because the B antigen is foreign. A person
In general, the number of genotypes possible will be having blood type B produces A antibodies, and someone
[n(n1)]/2, where n equals the number of different alleles having blood type AB produces neither A nor B antibodies,
at a locus. Working crosses with multiple alleles is no differ- because neither A nor B antigen is foreign. A person having
ent from working crosses with two alleles; Mendel’s princi- blood type O possesses no A or B antigens; consequently that
ple of segregation still holds, as shown in the cross between person produces both A antibodies and B antibodies. The
a restricted duck and a mallard duck ( ◗ FIGURE 5.4). presence of antibodies against foreign ABO antigens means
106 Chapter 5

(b)
Blood-recipient reactions to
(a) donor-blood antibodies
Phenotype Genotype Antigen Antibodies A B AB O
(blood type) type made by (B anti- (A anti- (no anti- (A and B
body bodies) bodies) bodies) antibodies)
Red blood cells that do not react
I AI A with the recipient antibody remain
A or A B evenly dispersed. Donor blood and
I Ai recipient blood are compatable.

Blood cells that react with the

I BI B
recipient antibody clump together.
B or B A
Donor blood and recipient blood
I Bi are not compatible.

AB I AI B A and B None

O ii None A and B

Type O donors can donate Type AB recipients can accept

to any recipient: they are blood from any donor: they
universal donors. are universal recipients.

◗ 5.5 ABO blood types and possible blood transfusions.

that successful blood transfusions are possible only between the trial to settle the paternity suit, three pathologists came
persons with certain compatible blood types ( ◗ FIGURE 5.5b). to the witness stand and declared that it was genetically
The inheritance of alleles at the ABO locus can be illus- impossible for Chaplin to have fathered the child. Neverthe-
trated by a paternity suit involving the famous movie actor less, the jury ruled that Chaplin was the father and ordered
Charlie Chaplin. In 1941, Chaplin met a young actress named him to pay child support and Barry’s legal expenses.
Joan Barry, with whom he had an affair. The affair ended in
February 1942 but, 20 months later, Barry gave birth to a Concepts
baby girl and claimed that Chaplin was the father. Barry then More than two alleles (multiple alleles) may be
sued for child support. At this time, blood typing had just present within a group of individuals, although
come into widespread use, and Chaplin’s attorneys had each diploid individual still has only two alleles
Chaplin, Barry, and the child blood typed. Barry had blood at that locus.
type A, her child had blood type B, and Chaplin had blood
type O. Could Chaplin have been the father of Barry’s child?
Your answer should be no. Joan Barry had blood type Gene Interaction
A, which can be produced by either genotype IAIA or IAi. In the dihybrid crosses that we examined in Chapter 3, each
Her baby possessed blood type B, which can be produced by locus had an independent effect on the phenotype. When
either genotype IBIB or IBi. The baby could not have inher- Mendel crossed a homozygous round and yellow plant
ited the IB allele from Barry (Barry could not carry an IB (RRYY) with a homozygous wrinkled and green plant (rryy)
allele if she were blood type A); therefore the baby must and then self-fertilized the F1, he obtained F2 progeny in the
have inherited the i allele from her. Barry must have had following proportions:
genotype IAi, and the baby must have had genotype IBi.
Because the baby girl inherited her i allele from Barry, she 9
16 R_Y_ round, yellow
must have inherited the IB allele from her father. With 3
16 R_yy round, green
blood type O, produced only by genotype ii, Chaplin could 3
16 rrY_ wrinkled, yellow
not have been the father of Barry’s child. In the course of 1
16 rryy wrinkled, green
 Extensions and Modifications of Basic Principles 107

In this example, the genes showed two kinds of indepen- (a)

dence. First, the genes at each locus are independent in their P generation
assortment in meiosis, which is what produces the 9 : 3 : 3 : 1 Red Green
ratio of phenotypes in the progeny, in accord with Mendel’s 
principle of independent assortment. Second, the genes are
independent in their phenotypic expression; the R and r alle-
les affect only the shape of the seed and have no influence
on the color of the endosperm; the Y and y alleles affect RR CC rr cc
only color and have no influence on the shape of the seed.
Cross
Frequently, genes exhibit independent assortment but
do not act independently in their phenotypic expression;
instead, the effects of genes at one locus depend on the F1 generation
Red
presence of genes at other loci. This type of interaction
between the effects of genes at different loci (genes that are
not allelic) is termed gene interaction. With gene inter-
action, the products of genes at different loci combine to
produce new phenotypes that are not predictable from the
single-locus effects alone. In our consideration of gene Rr Cc
interaction, we’ll focus primarily on interaction between the
(b)
effects of genes at two loci, although interactions among
genes at three, four, or more loci are common. F1 generation

Concepts
In gene interaction, genes at different loci
contribute to the determination of a single Rr Cc  Rr Cc
phenotypic characteristic.
Cross

Gene Interaction That Produces F2 generation

Novel Phenotypes Red Brown Yellow Green

Let’s first examine gene interaction in which genes at two loci

interact to produce a single characteristic. Fruit color in the
pepper Capsicum annuum is determined in this way. This
plant produces peppers in one of four colors: red, brown, yel- 9/16 R_ C_ 3/16 R_ cc 3/16 rr C_ 1/16 rr cc
low, or green. If a homozygous plant with red peppers is
Conclusion: 9 red : 3 brown : 3 yellow : 1 green
crossed with a homozygous plant with green peppers, all the
F1 plants have red peppers ( ◗ FIGURE 5.6a). When the F1 are
crossed with one another, the F2 are in a ratio of 9 red : 3
◗ 5.6 Gene interaction in which two loci determine
a single characteristic, fruit color, in the pepper
brown : 3 yellow : 1 green ( ◗ FIGURE 5.6b). This dihybrid ra- Capsicum annuum.
tio (Chapter 3) is produced by a cross between two plants
that are both heterozygous for two loci (RrCc  RrCc). In
peppers, a dominant allele R at the first locus produces a red To illustrate how Mendel’s rules of heredity can be
pigment; the recessive allele r at this locus produces no red used to understand the inheritance of characteristics de-
pigment. A dominant allele C at the second locus causes de- termined by gene interaction, let’s consider a testcross be-
composition of the green pigment chlorophyll; the recessive tween an F1 plant from the cross in Figure 5.6 (RrCc) and
allele c allows chlorophyll to persist. The genes at the two loci a plant with green peppers (rrcc). As outlined in Chapter 3
then interact to produce the colors seen in F2 peppers: (p. 000) for independent loci, we can work this cross
by breaking it down into two simple crosses. At the first
Genotype Phenotype locus, the heterozygote Rr is crossed with the homozygote
R_C_ red rr; this cross produces 12 Rr and 12 rr progeny. Similarly,
R_cc brown at the second locus, the heterozygous genotype Cc is
rrC_ yellow crossed with the homozygous genotype cc, producing 12
rrcc green Cc and 12 cc progeny. In accord with Mendel’s principle of
108 Chapter 5

◗ 5.7 A chicken’s comb is determined by gene interaction between

two loci. (a) A walnut comb is produced when there is a dominant allele at
each of two loci (R_P_). (b) A rose comb occurs when there is a dominant
allele only at the first locus (R_pp). (c) A pea comb occurs when there is
a dominant allele only at the second locus (ppR_). (d) A single comb is
produced by the presence of only recessive alleles at both loci (rrpp).
(Parts a and d, R. OSF Dowling/Animals Animals; part b, Robert Maier/Animals
Animals; part c, George Godfrey/Animals Animals.)

independent assortment, these single-locus ratios can recessive alleles are present at the first locus and at least
be combined by using the multiplication rule: the proba- one dominant allele is present at the second (genotype
bility of obtaining the genotype RrCc is the probability of rrP_), the chicken has a pea comb. Finally, if two recessive
Rr (12) multiplied by the probability of Cc (12), or 14. The alleles are present at both loci (rrpp), the bird has a single
probability of each progeny genotype resulting from the comb.
testcross is:
Gene Interaction with Epistasis
Progeny Probability Overall Sometimes the effect of gene interaction is that one gene
genotype at each locus probability Phenotype masks (hides) the effect of another gene at a different locus,
RrCc 1
2  12  1
4 red peppers a phenomenon known as epistasis. This phenomenon is
Rrcc 1
2  12  1
4 brown peppers similar to dominance, except that dominance entails the
rrCc 1
2  12  1
4 yellow peppers masking of genes at the same locus (allelic genes). In epista-
rrcc 1
2  12  1
4 green peppers sis, the gene that does the masking is called the epistatic
gene; the gene whose effect is masked is a hypostatic gene.
When you work problems with gene interaction, it is Epistatic genes may be recessive or dominant in their effects.
especially important to determine the probabilities of single-
locus genotypes and to multiply the probabilities of geno- Recessive epistasis Recessive epistasis is seen in the
types, not phenotypes, because the phenotypes cannot be genes that determine coat color in Labrador retrievers.
determined without considering the effects of the genotypes These dogs may be black, brown, or yellow; their different
at all the contributing loci. coat colors are determined by interactions between genes at
Another example of gene interaction that produces two loci (although a number of other loci also help to
novel phenotypes is seen in the genes that determine comb determine coat color; see p. 000). One locus determines the
shape in chickens. The comb is the fleshy structure found type of pigment produced by the skin cells: a dominant
on the head of a chicken. Genes at two loci (R, r and P, p) allele B codes for black pigment, whereas a recessive allele b
interact to determine the four types of combs shown in codes for brown pigment. Alleles at a second locus affect the
◗ FIGURE 5.7. A walnut comb is produced when at least deposition of the pigment in the shaft of the hair; allele E
one dominant allele R is present at the first locus and at allows dark pigment (black or brown) to be deposited,
least one dominant allele P is present at the second locus whereas a recessive allele e prevents the deposition of dark
(genotype R_P_). A chicken with at least one dominant pigment, causing the hair to be yellow. The presence of
allele at the first locus and two recessive alleles at the sec- genotype ee at the second locus therefore masks the expres-
ond locus (genotype R_pp) possesses a rose comb. If two sion of the black and brown alleles at the first locus. The
 Extensions and Modifications of Basic Principles 109

genotypes that determine coat color and their phenotypes How can gene interaction explain these results?
are: In the F2, 1216 or 34 of the plants produce white squash
Genotype Phenotype and 316  116  416  14 of the plants produce squash
having color. This outcome is the familiar 3 : 1 ratio pro-
B_ E_ black
duced by a cross between two heterozygous individuals,
bbE_ brown (frequently called chocolate)
which suggests that a dominant allele at one locus inhibits
B_ee yellow
the production of pigment, resulting in white progeny. If we
bbee yellow
use the symbol W to represent the dominant allele that
If we cross a black Labrador homozygous for the dominant inhibits pigment production, then genotype W_ inhibits
alleles with a yellow Labrador homozygous for the recessive pigment production and produces white squash, whereas
alleles and then intercross the F1, we obtain progeny in the ww allows pigment and results in colored squash.
F2 in a 9 : 3 : 4 ratio: Among those ww F2 plants with pigmented fruit, we
P BBEE  bbee observe 316 yellow and 116 green (a 3 : 1 ratio). This out-
black yellow come is because a second locus determines the type of pig-
s ment produced in the squash, with yellow (Y_) dominant
p over green (yy). This locus is expressed only in ww plants,
which lack the dominant inhibitory allele W. We can assign
F1 BbEe the genotype wwY_ to plants that produce yellow squash
black and the genotype wwyy to plants that produce green squash.
s The genotypes and their associated phenotypes are:
p Intercross
W_Y_ white squash
F2 9
16 B_E_ black W_yy white squash
3
16 bbE_ brown wwY_ yellow squash
16 Bee

3
yellow 4 wwyy green squash
16 yellow
1
16 bbee yellow
Allele W is epistatic to Y and y — it suppresses the expression
Notice that yellow dogs can carry alleles for either black or of these pigment-producing genes. W is a dominant epistatic
brown pigment, but these alleles are not expressed in their allele because, in contrast with e in Labrador retriever coat
coat color. color, a single copy of the allele is sufficient to inhibit pig-
In this example of gene interaction, allele e is epistatic ment production.
to B and b, because e masks the expression of the alleles for Summer squash provides us with a good opportunity
black and brown pigments, and alleles B and b are hyposta- for considering how epistasis often arises when genes affect
tic to e. In this case, e is a recessive epistatic allele, because a series of steps in a biochemical pathway. Yellow pigment
two copies of e must be present to mask of the black and in the squash is most likely produced in a two-step
brown pigments. biochemical pathway ( ◗ FIGURE 5.8). A colorless (white)
compound (designated A in Figure 5.8) is converted by
Dominant epistasis Dominant epistasis is seen in the enzyme I into green compound B, which is then converted
interaction of two loci that determine fruit color in summer into compound C by enzyme II. Compound C is the yellow
squash, which is commonly found in one of three colors: pigment in the fruit.
yellow, white, or green. When a homozygous plant that pro- Plants with the genotype ww produce enzyme I and
duces white squash is crossed with a homozygous plant that may be green or yellow, depending on whether enzyme II is
produces green squash and the F1 plants are crossed with present. When allele Y is present at a second locus, enzyme II
each other, the following results are obtained: is produced and compound B is converted into compound
P plants with plants with C, producing a yellow fruit. When two copies of y, which
white squash  green squash does not encode a functional form of enzyme II, are present,
s squash remain green. The presence of W at the first locus
p inhibits the conversion of compound A into compound B;
plants with plants with genotype W_ do not make compound B and
F1 their fruit remains white, regardless of which alleles are pres-
white squash
ent at the second locus.
s
p Intercross Many cases of epistasis arise in this way. A gene (such as
W) that has an effect on an early step in a biochemical path-
F2 12
16 plants with white squash way will be epistatic to genes (such as Y and y) that affect
3
16plants with yellow squash subsequent steps, because the effect of the enzyme in the
1
16plants with green squash later step depends on the product of the earlier reaction.
110 Chapter 5

1 Plants with genotype ww produce 3 Plants with genotype Y_ produce

enzyme I, which converts compound A enzyme II, which converts compound B
(colorless) into compound B (green). into compound C (yellow).

ww plants Y_ plants
Conclusion: Genotypes W_ Y_ and W_ yy
do not produce enzyme I; ww yy produces
enzyme I but not enzyme II; ww Y_
Compound A Enzyme I Compound B Enzyme II Compound C produces both enzyme I and enzyme II.

W_ plants yy plants

2 Dominant allele W inhibits 4 Plants with genotype yy do not

the conversion of A into B. encode a functional form of enzyme II.

◗ 5.8 Yellow pigment in summer squash is produced in a two-step pathway.

Duplicate recessive epistasis Let’s consider one more compound B has been converted into compound C by
detailed example of epistasis. Albinism is the absence of enzyme II. At least one dominant allele A at the first locus is
pigment and is a common genetic trait in many plants and required to produce enzyme I; similarly, at least one domi-
animals. Pigment is almost always produced through a nant allele B at the second locus is required to produce
multistep biochemical pathway; thus, albinism may entail enzyme II. Albinism arises from the absence of compound
gene interaction. Robert T. Dillon and Amy R. Wethington C, which may happen in three ways. First, two recessive
found that albinism in the common freshwater snail alleles at the first locus (genotype aaB_) may prevent
Physa heterostroha can result from the presence of either of the production of enzyme I, and so compound B is never
two recessive alleles at two different loci. Inseminated snails produced. Second, two recessive alleles at the second locus
were collected from a natural population and placed in cups (genotype A_bb) may prevent the production of enzyme II.
of water, where they laid eggs. Some of the eggs hatched In this case, compound B is never converted into com-
into albino snails. When two albino snails were crossed, all pound C. Third, two recessive alleles may be present at both
of the F1 were pigmented. On intercrossing the F1, the F2 loci (aabb), causing the absence of both enzyme I and
consisted of 916 pigmented snails and 716 albino snails. How enzyme II. In this example of gene interaction, a is epistatic to
did this 9 : 7 ratio arise? B, and b is epistatic to A; both are recessive epistatic alleles be-
The 9 : 7 ratio seen in the F2 snails can be understood as cause the presence of two copies of either allele a or b is neces-
a modification of the 9 : 3 : 3 : 1 ratio obtained when two indi- sary to suppress pigment production. This example differs
viduals heterozygous for two loci are crossed. The 9 : 7 ratio from the suppression of coat color in Labrador retrievers in
arises when dominant alleles at both loci (A_B_) produce that recessive alleles at either of two loci are capable of sup-
pigmented snails; any other genotype produces albino snails: pressing pigment production in the snails, whereas recessive
alleles at a single locus suppress pigment expression in Labs.
P aaBB AAbb
albino albino
s Concepts
p
Epistasis is the masking of the expression of one gene
F1 AaBb by another gene at a different locus. The epistatic
pigmented gene does the masking; the hypostatic gene is
s masked. Epistatic genes can be dominant or recessive.
p Intercross
F2 16 A_B_ pigmented
9


16 aaB albino
3
3
16 Abb albino 716 albino
Connecting Concepts
1
16 aabb albino Interpreting Ratios Produced
by Gene Interaction
The 9 : 7 ratio in these snails is probably produced by a two-
step pathway of pigment production ( ◗ FIGURE 5.9). Pig- A number of modified ratios that result from gene inter-
ment (compound C) is produced only after compound A action are shown in Table 5.2. Each of these examples rep-
has been converted into compound B by enzyme I and after resents a modification of the basic 9 : 3 : 3 : 1 dihybrid ratio.
 Extensions and Modifications of Basic Principles 111

1 A dominant allele at the A locus is 2 A dominant allele at the B locus is required to

required to produce enzyme I, which produce enzyme II, which converts compound B
converts compound A into compound B. into compound C (pigment).

A_ snails B_ snails
5 Pigmented snails must produce
enzymes I and II, which requires
genotype A_ B_.
Compound A Enzyme I Compound B Enzyme II Compound C

aa snails bb snails

3 Albinism arises from the absence 4 …or from the absence of enzyme II (A_ bb),
of enzyme I (aa B_), so compound so compound C is never produced, or from
B is never produced,… the absence of both enzymes (aa bb).

◗ 5.9 Pigment is produced in a two-step pathway in snails.

In interpreting the genetic basis of modified ratios, we A second point is that in the examples that we have
should keep several points in mind. First, the inheritance considered, the phenotypic proportions were always in six-
of the genes producing these characteristics is no different teenths because, in all the crosses, pairs of alleles segregated
from the inheritance of genes coding for simple genetic at two independently assorting loci. The probability of
characters. Mendel’s principles of segregation and inde- inheriting one of the two alleles at a locus is 12. Because
pendent assortment still apply; each individual possesses there are two loci, each with two alleles, the probability of
two alleles at each locus, which separate in meiosis, and inheriting any particular combination of genes is (12)4 
genes at the different loci assort independently. The only 1
16. For a trihybrid cross, the progeny proportions should
difference is in how the products of the genotypes interact be in sixty-fourths, because (12)6  164. In general, the
to produce the phenotype. Thus, we cannot consider the progeny proportions should be in fractions of (12)2n, where
expression of genes at each locus separately, but must take n equals the number of loci with two alleles segregating in
into consideration how the genes at different loci interact. the cross.

Table 5.2 Modified dihybrid — phenotypic ratios due to gene interaction

Genotype
Type of
Ratio A_B_ A_bb aaB_ aabb Interaction Example

9:3:3:1 9 3 3 1 None Seed shape and

endosperm color in peas
9:3:4 9 3 4 Recessive epistasis Coat color in Labrador
retrievers
12:3:1 12 3 1 Dominant epistasis Color in squash
9:7 9 7 Duplicate recessive Albinism in snails
epistasis
9:6:1 9 6 1 Duplicate interaction —
15:1 15 1 Duplicate dominant —
epistasis
13:3 13 3 Dominant and recessive —
epistasis

*Reading across, each row gives the phenotypic ratios of progeny from a dihybrid
cross (AaBb  AaBb).
112 Chapter 5

Crosses rarely produce exactly 16 progeny; therefore, been breeding dogs for particular traits, producing the large
modifications of a dihybrid ratio are not always obvious. number of types that we see today. Each breed of dog carries a
Modified dihybrid ratios are more easily seen if the number selection of genes from the ancestral dog gene pool; these
of individuals of each phenotype is expressed in sixteenths: genes define the features of a particular breed.
x number of progeny with a phenotype One of the most obvious differences between dogs is coat
 color. The genetics of coat color in dogs is quite complex;
16 total number of progeny
many genes participate, and there are numerous interactions
where x/16 equals the proportion of progeny with a par- between genes at different loci. We will consider seven loci (in
ticular phenotype. If we solve for x (the proportion of the the list that follows) that are important in producing many of
particular phenotype in sixteenths), we have: the noticeable differences in color and pattern among breeds
number of progeny with a phenotype  16 of dogs. In interpreting the genetic basis of differences in coat
x
total number of progeny color of dogs, consider how the expression of a particular gene
For example, suppose we cross two homozygous individuals, is modified by the effects of other genes. Keep in mind that
interbreed the F1 and obtain 63 red, 21 brown, and 28 white additional loci not listed here can modify the colors produced
F2 individuals. Using the preceding formula, the phenotypic by these seven loci and that not all geneticists agree on the
ratio in the F2 is: red  (63  16)/112  9; brown  (21  genetics of color variation in some breeds.
16)/112  3; and white  (28  16)/112  4. The pheno- 1. Agouti (A) locus — This locus has five common alleles
typic ratio is 9 : 3 : 4 that determine the depth and distribution of color in
A final point to consider is how to assign genotypes to a dog’s coat:
the phenotypes in modified ratios owing to gene interac- As Solid black pigment.
tion. Don’t try to memorize the genotypes associated with aw Agouti, or wolflike gray. Hairs encoded by this
all the modified ratios in Table 5.2. Instead, practice relating allele have a “salt and pepper” appearance,
modified ratios to known ratios, such as the 9 : 3 : 3 : 1 produced by a band of yellow pigment on a black
dihybrid ratio. Suppose we obtain 1516 green progeny and hair.
1
16 white progeny in a cross between two plants. If we com- ay Yellow. The black pigment is markedly reduced;
pare this 15 : 1 ratio with the standard 9 : 3 : 3 : 1 dihybrid so the entire hair is yellow.
ratio, we see that 916  316  316 equals 1516. All the geno- as Saddle markings (dark color on the back, with
types associated with these proportions in the dihybrid extensive tan markings on the head and legs).
cross (A_B_ , A_bb, and aaB_) must give the same pheno- at Bicolor (dark color over most of the body, with
type, the green progeny. Genotype aabb makes up 116 of the tan markings on the feet and eyebrows).
progeny in a dihybrid cross, the white progeny in this cross. A and ay are generally dominant over the other alleles,
s
In assigning genotypes to phenotypes in modified but the dominance relations are complex and not yet
ratios, students sometimes become confused about which completely understood.
letters to assign to which phenotype. Suppose we obtain
2. Black (B) locus — This locus determines whether black
the following phenotypic ratio: 916 black : 316 brown : 416
white. Which genotype do we assign to the brown prog- pigment can be formed. The actual color of a dog’s fur
eny, A_bb or aaB_? Either answer is correct, because the depends on the effects of genes at other loci (such as the
letters are just arbitrary symbols for the genetic informa- A, C, D, and E loci). Two alleles are common:
tion. The important thing to realize about this ratio is that B Allows black pigment to be produced; the dog
the brown phenotype arises when two recessive alleles are will be black if it also possesses certain alleles at
present at one locus. the A, C, D, and E loci.
b Black pigment cannot be produced; pigmented
dogs can be chocolate, liver, tan, or red.
Concepts B is dominant over b.
Gene interaction frequently produces modified 3. Albino (C) locus — This locus determines whether full
phenotypic ratios. These modified ratios can be color will be expressed. There are five alleles at this locus:
understood by relating them to other known ratios. C Color fully expressed.
c ch Chinchilla. Less color is expressed, and pigment
is completely absent from the base of the long
The Complex Genetics of Coat Color in Dogs hairs, producing a pale coat.
Coat color in dogs is an excellent example of how complex in- cd All white coat with dark nose and dark eyes.
teractions between genes may take part in the determination cb All white coat with blue eyes.
of a phenotype. Domestic dogs come in an amazing variety of c Fully albino. The dogs have an all-white coat with
shapes, sizes, and colors. For thousands of years, humans have pink eyes and nose.
 Extensions and Modifications of Basic Principles 113

(a) (b) (c)

◗ 5.10 Coat color in dogs is determined by interactions between

genes at a number of loci. (a) Most Labrador retrievers are genotype
AsAsCCDDSStt, varing only at the B and E loci. (b) Most beares are genotype
asasBBCCDDspsptt. (c) Dalmations are genotype AsAsCCDDEEswswTT, varing
at the B locus so that the dogs are black (B_) or brown (bb). (Part a, Robert
Maier/Animals Animals; part b, Ralph Reinhold/Animals Animals; part c, Robert
Percy/ Animals Animals.)

The dominance relations among these alleles is presumed S is completely dominant over si, sp, and sw; si and sp are
to be C  c ch  c d  c b  c, but the c ch and c alleles are dominant over sw (S  si, sp  sw). The relation between
rare, and crosses including all possible genotypes have of si and sp is poorly defined; indeed, they may not be
not been completed. separate alleles. Genes at other poorly known loci also
4. Dilution (D) locus — This locus, with two alleles, modify spotting patterns.
determines whether the color will be diluted. For example, 7. Ticking (T) locus — This locus determines the presence
diluted black pigment appears bluish, and diluted yellow of small colored spots on the white areas, which is called
appears cream. The diluted effect is produced by an ticking:
uneven distribution of pigment in the hair shaft:
T Ticking; small colored spots on the areas of white.
D Intense pigmentation. t No ticking.
d Dilution of pigment.
T is dominant over t. Ticking cannot be expressed if a
D is dominant over d. dog has a solid coat (S_).
5. Extension (E) locus — Four alleles at this locus determine
where the genotype at the A locus is expressed. For To illustrate how genes at these loci interact in deter-
example, if a dog has the As allele (solid black) at the A mining a dog’s coat color, let’s consider a few examples:
locus, then black pigment will either be extended
throughout the coat or be restricted to some areas, Labrador retriever- Labrador retrievers ( ◗ FIGURE
depending on the alleles present at the E locus. Areas 5.10a) may be black, brown, or yellow. Most are
where the A locus is not expressed may appear as yellow, homozygous AsAsCCDDSStt; thus, they vary only at the
red, or tan, depending on the presence of particular genes B and E loci. The As, C, and D alleles allow dark pigment
at other loci. When As is present at the A locus, the four to be expressed; whether a dog is black depends on
alleles at the E locus have the following effects: which genes are present at the B and E loci. As discussed
Em Black mask with a tan coat. earlier in the chapter, all black Labradors must carry at
E The A locus expressed throughout (solid black). least one B allele and one E allele (B_E_). Brown dogs
ebr Brindle, in which black and yellow are in layers to are homozygous bb and have at least one E allele (bbE_).
give a tiger-striped appearance. Yellow dogs are a result of the presence of ee (B_ee or
e No black in the coat, but the nose and eyes may bbee). Labrador retrievers are homozygous for the S
be black. allele, which produces a solid color; the few white spots
The dominance relations among these alleles are poorly that appear in some dogs of this breed are due to other
known. modifying genes. The allele for ticking, T, is presumed
6. Spotting (S) locus — Alleles at this locus determine not to exist in Labradors; however, Labrador retrievers
whether white spots will be present. There are four have solid coats and ticking is expressed only in spotted
common alleles: dogs; so its absence is uncertain.
S No spots. Beagle- Most beagles are homozygous
si Irish spotting; numerous white spots. asas BBCCDDspsptt, although other alleles at these loci
sp Piebald spotting; various amounts of white. are occasionally present. The as allele produces the
sw Extreme white piebald; almost all white. saddle markings — dark back and sides, with tan head
114 Chapter 5

and legs — that are characteristic of the breed ( ◗ FIGURE found in wild-type flies. Apricot is an X-linked recessive
5.10b). Alleles B, C, and D allow black to be produced, mutation that produces light orange-colored eyes. Do the
but its distribution is limited by the as allele. Genotype white and apricot mutations occur at the same locus or at
ee does occasionally arise, leading to a few all-tan different loci? We can use the complementation test to
beagles. White spotting in beagles is due to the sp allele. answer this question.
Ticking can appear, but most beagles are tt. To carry out a complementation test, parents that are
Dalmatian- Dalmatians ( ◗ FIGURE 5.10c) have an homozygous for different mutations are crossed, producing
interesting genetic makeup. Most are homozygous offspring that are heterozygous. If the mutations are allelic
AsAs CCDDEEswswTT; so they vary only at the B locus. (occur at the same locus), then the heterozygous offspring
Notice that these dogs possess genotype AsAsCCDDEE, have only mutant alleles (ab) and exhibit a mutant phenotype:
which allows for a solid coat that would be black, if geno-
type B_ is present, or brown (called liver), if genotype bb a  b
is present. However, the presence of the sw allele produces
a white coat, masking the expression of the solid color. a b
The dog’s color appears only in the pigmented spots,
which are due to the presence of the ticking allele T. Table
5.3 gives the common genotypes of other breeds of dogs.
a
mutant phenotype
www.whfreeman.com/pierce Information on dog genetics, b
including the Dog Genome Project
If, on the other hand, the mutations occur at different loci,
Complementation: Determining Whether each of the homozygous parents possesses wild-type genes
Mutations Are at the Same or Different Loci at the other locus (aa bb and a a bb); so the heterozy-
How do we know whether different mutations that affect gous offspring inherit a mutant and a wild-type allele at
a characteristic occur at the same locus (are allelic) or at dif- each locus. In this case, the mutations complement each
ferent loci? In fruit flies, for example, white is an X-linked other and the heterozygous offspring have the wild-type
mutation that produces white eyes instead of the red eyes phenotype:

Table 5.3 Common genotypes in different breeds of dogs

Usual Other Genes
Breed Homozygous Genes* Present Within the Breed

Basset hound BBCCDDEEtt ay, at S, sp, si

Beagle asasBBCCDDspsptt E, e
English bulldog BBCCDDtt As, ay, at E m, E, ebr S, si, sp, sw
Chihuahua tt As, ay, as, at B, b C, cch D, d E m, E, ebr, e S, si sp, sw
y t i w
Collie BBCCEEtt a,a D, d s, s
s s w w
Dalmatian A A CCDDEEs s TT B, b
Doberman atatCCEESStt B, b D, d
German shepherd BBDDSStt a , a , as, at
y g
C, c ch E m, E, e
Golden retriever AsAsBBDDSStt C, c ch E, e
Greyhound BBtt As, ay C, c ch D, d E, ebr, e S, sp, sw, si
t
Irish setter BBCCDDeeSStt A, a
s s
Labrador retriever A A CCDDSStt B, b E, e
Poodle SStt As, at B, b C, c ch D, d E, e
t t
Rottweiler a a BBCCDDEESStt
St. Bernard ayayBBCCDDtt E m, E si, sp, sw

*Most dogs in the breed are homozygous for these genes; a few individual dogs may possess other alleles at these loci.
Source: Data from M. B. Willis, Genetics of the Dog (London: Witherby, 1989).
 Extensions and Modifications of Basic Principles 115

(a)
a b  a b
P generation
b a
a b
Beardless  Bearded 


a b
wild-type phenotype
a b
B +B + B bB b
Meiosis
Complementation occurs when an individual possessing
two mutant genes has a wild-type phenotype and is an indi- Gametes B + Bb
cator that the mutations are nonallelic genes.
When the complementation test is applied to white and
Fertilization
apricot mutations, all of the heterozygous offspring have light-
colored eyes, demonstrating that white and apricot are pro-
duced by mutations that occur at the same locus and are allelic. F1 generation
Bearded  Beardless 
Interaction Between Sex and Heredity
In Chapter 4, we considered characteristics encoded by genes
located on the sex chromosomes and how their inheritance
differs from the inheritance of traits encoded by autosomal
genes. Now we will examine additional influences of sex, B +B b B +B b
including the effect of the sex of an individual on the expres-
sion of genes on autosomal chromosomes, characteristics (b)
determined by genes located in the cytoplasm, and charac- F1 generation
teristics for which the genotype of only the maternal parent Bearded  Beardless 
determines the phenotype of the offspring. Finally, we’ll look
at situations in which the expression of genes on autosomal
chromosomes is affected by the sex of the parent from 
whom they are inherited.
Sex-Influenced and Sex-Limited Characteristics B +B b B +B b
Sex influenced characteristics are determined by autoso- Meiosis
mal genes and are inherited according to Mendel’s princi-
ples, but they are expressed differently in males and females. Gametes B + Bb B+ Bb
In this case, a particular trait is more readily expressed in
one sex; in other words, the trait has higher penetrance (see Fertilization
p. 000 in Chapter 3) in one of the sexes.
For example, the presence of a beard on some goats is
F2 generation
determined by an autosomal gene (Bb) that is dominant in
Beardless Bearded Bearded Beardless Beardless Bearded
males and recessive in females. In males, a single allele is
required for the expression of this trait: both the homozygote      
(BbBb) and the heterozygote (BbB+) have beards, whereas the
B+B+ male is beardless. In contrast, females require two alleles
in order for this trait to be expressed: the homozygote BbBb
has a beard, whereas the heterozygote (BbB+) and the other
homozygote (B+B+) are beardless. The key to understanding 1/4 B +B + 1/2 B +B b 1/4 B bB b 1/4 B +B + 1/2 B +B b 1/4 B bB b

the expression of the bearded gene is to look at the heterozy-

3/4 1/4
gote. In males (for which the presence of a beard is domi-
Conclusion: 3/4 of the males are bearded
nant), the heterozygous genotype produces a beard but, in
1/4 of the females are bearded
females (for which the presence of a beard is recessive and its
absence is dominant), the heterozygous genotype produces a
goat without a beard. ◗ 5.11 Genes that encode sex-influenced traits are
◗ FIGURE 5.11a illustrates a cross between a beardless inherited according to Mendel’s principles but are
male (BB) and a bearded female (BbBb). The alleles expressed differently in males and females.
116 Chapter 5

◗ 5.12 Pattern baldness is a sex-influenced trait. This trait is seen in

three generations of the Adams family: (a) John Adams (1735 – 1826), the
second president of the United States, was father to (b) John Quincy Adams
(1767 – 1848), who was father to (c) Charles Francis Adams (1807 – 1886).
Pattern baldness results from an autosomal gene that is thought to be
dominant in males and recessive in females. (Part (a) National Museum of
American Art, Washington, D.C./Art Resource, NY; (b) National Portrait Gallery,
Washington, D.C./Art Resource, N.Y.; (c) Bettmann/Corbis.)

separate into gametes according to Mendel’s principle of An extreme form of sex-influenced inheritance, a sex-
segregation, and all the F1 are heterozygous (BBb). Because limited characteristic is encoded by autosomal genes that
the trait is dominant in males and recessive in females, all are expressed in only one sex — the trait has zero penetrance
the F1 males will be bearded, and all the F1 females will be in the other sex. In domestic chickens, some males display a
beardless. When the F1 are crossed with one another, 14 of plumage pattern called cock feathering ( ◗ FIGURE 5.13a).
the F2 progeny are BbBb, 12 are BbB, and 14 are BB Other males and all females display a pattern called hen
( ◗ FIGURE 5.11b). Because male heterozygotes are bearded, feathering ( ◗ FIGURE 5.13b and c). Cock feathering is an
3
4 of the males in the F2 possess beards; because female het- autosomal recessive trait that is sex limited to males. Because
erozygotes are beardless, only 14 of the females in F2 are the trait is autosomal, the genotypes of males and females
bearded. are the same, but the phenotypes produced by these geno-
An example of a sex-influenced characteristic in types differ in males and females:
humans is pattern baldness, in which hair is lost prema-
turely from the front and the top of the head ( ◗ FIGURE Genotype Male phenotype Female phenotype
5.12). Pattern baldness is an autosomal character believed to HH hen feathering hen feathering
be dominant in males and recessive in females, just like Hh hen feathering hen feathering
beards in goats. Contrary to a popular misconception, hh cock feathering hen feathering
a man does not inherit pattern baldness from his mother’s
side of the family (which would be the case if the character An example of a sex-limited characteristic in humans is
were X linked, but it isn’t). Pattern baldness is autosomal; male-limited precocious puberty. There are several types of
men and women can inherit baldness from either their precocious puberty in humans, most of which are not
mothers or their fathers. Men require only a single allele for genetic. Male-limited precocious puberty, however, results
baldness to become bald, whereas women require two alle- from an autosomal dominant allele (P) that is expressed
les for baldness, and so pattern baldness is much more only in males; females with the gene are normal in pheno-
common among men. Furthermore, pattern baldness is type. Males with precocious puberty undergo puberty at an
expressed weakly in women; those with the trait usually early age, usually before the age of 4. At this time, the penis
have only a mild thinning of the hair, whereas men fre- enlarges, the voice deepens, and pubic hair develops. There
quently lose all the hair on the top of the head. The expres- is no impairment of sexual function; affected males are fully
sion of the allele for pattern baldness is clearly enhanced by fertile. Most are short as adults, because the long bones stop
the presence of male sex hormones; males who are castrated growing after puberty.
at an early age rarely become bald (but castration is not Because the trait is rare, affected males are usually het-
a recommended method for preventing baldness). erozygous (Pp). A male with precocious puberty who mates
 Extensions and Modifications of Basic Principles 117

◗ 5.13 A sex-limited characteristic is encoded by autosomal genes that

are expressed in only one sex. An example is cock feathering in chickens,
an autosomal recessive trait that is limited to males. (a) Cock-feathered male.
(b) and (c) Hen-feathered females. (Part a, Richard Kolar/Animals Animals; part b, Michael
Bisceblie/Animals Animals; part c, R. OSF Dowling/Animals Animals.)
(a)

P generation with a woman who has no family history of this condition

Precocious Normal will transmit the allele for precocious puberty to 12 of the
puberty  puberty  children ( ◗ FIGURE 5.14a), but it will be expressed only in
Pp  pp the sons. If one of the heterozygous daughters (Pp) mates
Meiosis with a male who has normal puberty (pp), 12 of the sons
will exhibit precocious puberty ( ◗ FIGURE 5.14b). Thus a
P p Gametes p p sex-limited characteristic can be inherited from either par-
ent, although the trait appears in only one sex.
Fertilization The results of molecular studies reveal that the under-
Half of the sons have
lying genetic defect in male-limited precocious puberty
precocious puberty;
no daughters have affects the receptor for luteinizing hormone (LH). This
F1 generation
precocious puberty. hormone normally attaches to receptors found on certain
cells of the testes and stimulates these cells to produce
  testosterone. During normal puberty in males, high levels of
1/2 P p Precocious puberty 1/2 Pp Normal puberty
LH stimulate the increased production of testosterone,
1/2 pp Normal puberty 1/2 p p Normal puberty which, in turn, stimulates the anatomical and physiological
changes associated with puberty. The P allele for precocious
(b) puberty codes for a defective LH receptor, which stimulates
P generation testosterone production even in the absence of LH. Boys
Normal Normal
with this allele produce high levels of testosterone at an
puberty  puberty  early age, when levels of LH are low. Defective LH receptors
pp  Pp are also found in females who carry the precocious-puberty
Meiosis gene, but their presence does not result in precocious
puberty, because additional hormones are required along
p p Gametes P p with LH to induce puberty in girls.

Fertilization
Concepts
Half of the sons have
precocious puberty;
Sex-influenced characteristics are traits encoded
no daughters have by autosomal genes that are more readily
F1 generation
precocious puberty. expressed in one sex. Sex-limited characteristics

  are encoded by autosomal genes whose

expression is limited to one sex.
1/2 P p Precocious puberty 1/2 Pp Normal puberty
1/2 pp Normal puberty 1/2 p p Normal puberty
◗ 5.14 Sex-limited characteristics are inherited
Conclusion: Both males and females can transmit according to Mendel’s principles. Precocious puberty
this sex-limited trait, but it is expressed only in males.
is an autosomal dominant trait that is limited to males.
118 Chapter 5

This cell contains an of mitochondrial DNA (mtDNA) is very small; nevertheless,

Mitochondria
equal number of
segregate randomly
mitochondrial and chloroplast genes encode some impor-
mitochondria with tant characteristics. The molecular details of this extranu-
in cell division.
wild-type genes and
mitochondria with clear DNA are discussed in Chapter 20; here, we will focus
mutated genes. on patterns of cytoplasmic inheritance.
Cell division Cytoplasmic inheritance differs from the inheritance of
characteristics encoded by nuclear genes in several impor-
tant respects. A zygote inherits nuclear genes from both
parents, but typically all of its cytoplasmic organelles, and thus
The random all its cytoplasmic genes, come from only one of the gametes,
segregation usually the egg. Sperm generally contributes only a set of
Replication of mitochondria
of mitochondria
nuclear genes from the male parent. In a few organisms, cyto-
in cell division…
plasmic genes are inherited from the male parent, or from
both parents; however, for most organisms, all the cytoplasm
is inherited from the egg. In this case, cytoplasmically inher-
ited maits are present in both males and females and are
Cell division passed from mother to offspring, never from father to off-
spring. Reciprocal crosses, therefore, give different results
when cytoplasmic genes encode a trait.
Cytoplasmically inherited characteristics frequently
exhibit extensive phenotypic variation, because there is no
mechanism analogous to mitosis or meiosis to ensure that
Replication of mitochondria cytoplasmic genes are evenly distributed in cell division.
Thus, different cells and individuals will contain various
proportions of cytoplasmic genes.
Consider mitochondrial genes. There are thousands of
mitochondria in each cell, and each mitochondrion contains
from 2 to 10 copies of mtDNA. Suppose that half of the
...results in progeny cells that differ mitochondria in a cell contain a normal wild-type copy of
in their number of mitochondria mtDNA and the other half contain a mutated copy ( ◗ FIGURE
with wild-type and mutated genes. 5.15). In cell division, the mitochondria segregate into prog-
eny cells at random. Just by chance, one cell may receive
◗ 5.15 Cytoplasmically inherited characteristics mostly mutated mtDNA and another cell may receive mostly
frequently exhibit extensive phenotypic variation wild-type mtDNA (see Figure 5.15). In this way, different
because cells and individual offspring contain progeny from the same mother and even cells within an indi-
various proportions of cytoplasmic genes.
vidual offspring may vary in their phenotype. Traits encoded
Mitochondria that have wild-type mtDNA are shown in
by chloroplast DNA (cpDNA) are similarly variable.
red; those having mutant mtDNA are shown in blue.
In 1909, cytoplasmic inheritance was recognized by
Carl Correns as one of the first exceptions to Mendel’s prin-
ciples. Correns, one of the biologists who rediscovered
Cytoplasmic Inheritance Mendel’s work, studied the inheritance of leaf variegation in
Mendel’s principles of segregation and independent assort- the four-o’clock plant, Mirabilis jalapa. Correns found that
ment are based on the assumption that genes are located on the leaves and shoots of one variety of four-o’clock were
chromosomes in the nucleus of the cell. For the majority variegated, displaying a mixture of green and white
of genetic characteristics, this assumption is valid, and splotches. He also noted that some branches of the varie-
Mendel’s principles allow us to predict the types of offspring gated strain had all-green leaves; other branches had all-
that will be produced in a genetic cross. However, not all the white leaves. Each branch produced flowers; so Correns was
genetic material of a cell is found in the nucleus; some char- able to cross flowers from variegated, green, and white
acteristics are encoded by genes located in the cytoplasm. branches in all combinations ( ◗ FIGURE 5.16). The seeds
These characteristics exhibit cytoplasmic inheritance. from green branches always gave rise to green progeny, no
A few organelles, notably chloroplasts and mitochon- matter whether the pollen was from a green, white, or varie-
dria, contain DNA. Each human mitochondrion contains gated branch. Similarly, flowers on white branches always
about 15,000 nucleotides of DNA, encoding 37 genes. Com- produced white progeny. Flowers on the variegated
pared with that of nuclear DNA, which contains some 3 bil- branches gave rise to green, white, and variegated progeny,
lion nucleotides encoding perhaps 35,000 genes, the amount in no particular ratio.
 Extensions and Modifications of Basic Principles 119

The phenotype of Pollen plant ( ) the random segregation of chloroplasts in the course of oo-
the branch from Pollen Pollen Pollen genesis produces some egg cells with normal cpDNA, which
which the pollen develop into green progeny; other egg cells with only abnor-
originated has no
mal cpDNA develop into white progeny; and, finally, still
effect on the
phenotype of other egg cells with a mixture of normal and abnormal
the progeny. cpDNA develop into variegated progeny.
In recent years, a number of human diseases (mostly
Seed plant ( ) White Green Variegated
rare) that exhibit cytoplasmic inheritance have been identi-
fied. These disorders arise from mutations in mtDNA, most
of which occur in genes coding for components of the
electron-transport chain, which generates most of the
ATP (adenosine triphosphate) in aerobic cellular respiration.
White White White White One such disease is Leber hereditary optic neuropathy.
Patients who have this disorder experience rapid loss of
vision in both eyes, resulting from the death of cells in the
optic nerve. Loss of vision typically occurs in early adult-
hood (usually between the ages of 20 and 24), but it can
occur any time after adolescence. There is much clinical vari-
Green Green Green Green ability in the severity of the disease, even within the same
family. Leber hereditary optic neuropathy exhibits maternal
inheritance: the trait is always passed from mother to child.
Genetic Maternal Effect
A genetic phenomenon that is sometimes confused with
White White White cytoplasmic inheritance is genetic maternal effect, in which
the phenotype of the offspring is determined by the genotype
of the mother. In cytoplasmic inheritance, the genes for a
characteristic are inherited from only one parent, usually the
mother. In genetic maternal effect, the genes are inherited from
Variegated Green Green Green both parents, but the offspring’s phenotype is determined
not by its own genotype but by the genotype of its mother.
Genetic maternal effect frequently arises when sub-
stances present in the cytoplasm of an egg (encoded by the
mother’s genes) are pivotal in early development. An excel-
lent example is shell coiling of the snail Limnaea peregra. In
Variegated Variegated Variegated most snails of this species, the shell coils to the right, which
is termed dextral coiling. However, some snails possess
Conclusion: The phenotype of the progeny is determined by
the phenotype of the branch from which the seed originated a left-coiling shell, exhibiting sinistral coiling. The direction
of coiling is determined by a pair of alleles; the allele for dex-
tral (s) is dominant over the allele for sinistral (s). However,
◗ 5.16 Crosses for leaf type in four o’clocks the direction of coiling is determined not by that snail’s own
illustrate cytoplasmic inheritance.
genotype, but by the genotype of its mother. The direction of
Corren’s crosses demonstrated cytoplasmic inheritance coiling is affected by the way in which the cytoplasm divides
of variegation in the four-o’clocks. The phenotypes of the soon after fertilization, which in turn is determined by a
offspring were determined entirely by the maternal parent, substance produced by the mother and passed to the off-
never by the paternal parent (the source of the pollen). Fur- spring in the cytoplasm of the egg.
thermore, the production of all three phenotypes by flowers If a male homozygous for dextral alleles (ss) is
on variegated branches is consistent with the occurrence of crossed with a female homozygous for sinistral alleles (ss),
cytoplasmic inheritance. Variegation in these plants is caused all of the F1 are heterozygous (ss) and have a sinistral shell,
by a defective gene in the cpDNA, which results in a failure because the genotype of the mother (ss) codes for sinistral
to produce the green pigment chlorophyll. Cells from green ( ◗ FIGURE 5.17). If these F1 snails are self-fertilized, the
branches contain normal chloroplasts only, cells from white genotypic ratio of the F2 is 1 ss : 2 ss : 1 ss. The phenotype
branches contain abnormal chloroplasts only, and cells from of all F2 snails will be dextral regardless of their genotypes,
variegated branches contain a mixture of normal and abnor- because the genotype of their mother (ss) encodes a right-
mal chloroplasts. In the flowers from variegated branches, coiling shell and determines their phenotype.
120 Chapter 5

1 Dextral, a right-handed coil, results from Concepts

an autosomal allele (s+) that is dominant…
P generation Characteristics exhibiting cytoplasmic inheritance
are encoded by genes in the cytoplasm and are
Dextral  Sinistral 
usually inherited from one parent, most commonly
2 …over an allele
for sinistral (s), the mother. In genetic maternal effect, the
 which encodes genotype of the mother determines the
a left-handed coil. phenotype of the offspring.
s+s+ ss
Meiosis

Gametes s+ s Genomic Imprinting

One of the basic tenets of Mendelian genetics is that the
Fertilization parental origin of a gene does not affect its expression —
reciprocal crosses give identical results. We have seen that
F1 generation there are some genetic characteristics — those encoded by
Sinistral 3 All the F1 are heterozygous X-linked genes and cytoplasmic genes — for which recipro-
(s+s); because the genotype cal crosses do not give the same results. In these cases, males
of the mother determines the and females do not contribute the same genetic material to
phenotype of the offspring,
all the F1 have a sinistral shell. the offspring. With regard to autosomal genes, males and
s+s females contribute the same number of genes, and paternal
Meiosis and maternal genes have long been assumed to have equal
effects. The results of recent studies, however, have identi-
fied several mammalian genes whose expression is signifi-
s+ s cantly affected by their parental origin. This phenomenon,
the differential expression of genetic material depending on
Self-fertilization whether it is inherited from the male or female parent, is
called genomic imprinting.
Genomic imprinting has been observed in mice in
F2 generation which a particular gene has been artificially inserted into
Dextral Dextral Dextral
a mouse’s DNA (to create a transgenic mouse). In these
mice, the inserted gene is faithfully passed from generation
to generation, but its expression may depend on which par-
ent transmitted the gene. For example, when a transgenic
1/4 s+s+ 1/2 s+s 1/4 ss male passes an imprinted gene to his offspring, they express
Conclusion: Because the mother the gene; but, when his daughter transmits the same gene to
of the F2 progeny has genotype her offspring, they don’t express it. In turn, her son’s off-
s+s, all the F2 snails are dextral. spring express it, but her daughter’s offspring don’t. Both
male and female offspring possess the gene for the trait; the
◗ 5.17 In genetic maternal effect, the genotype key to whether the gene is expressed is the sex of the parent
of the maternal parent determines the phenotype
transmitting the gene. In the present example, the gene is
of the offspring. Shell coiling in snails is a trait that
expressed only when it is transmitted by a male parent. The
exhibits genetic maternal effect.
reverse situation, expression of a trait when the gene is
transmitted by the female parent, also occurs.
Notice that the phenotype of the progeny is not neces- Genomic imprinting has been implicated in several
sarily the same as the phenotype of the mother, because the human disorders, including Prader-Willi and Angelman
progeny’s phenotype is determined by the mother’s geno- syndromes. Children with Prader-Willi syndrome have small
type, not her phenotype. Neither the male parent’s nor hands and feet, short stature, poor sexual development, and
the offspring’s own genotype has any role in the offspring’s mental retardation; they develop voracious appetites and
phenotype. A male does influence the phenotype of the F2 frequently become obese. Many persons with Prader-Willi
generation; by contributing to the genotypes of his daugh- syndrome are missing a small region of chromosome 15
ters, he affects the phenotypes of their offspring. Genes that called q11–13. The deletion of this region is always inherited
exhibit genetic maternal effect are therefore transmitted from the father in persons with Prader-Willi syndrome.
through males to future generations. In contrast, the genes The deletions of q11–13 on chromosome 15 can also
that exhibit cytoplasmic inheritance are always transmitted be inherited from the mother, but this inheritance results in a
through only one of the sexes (usually the female). completely different set of symptoms, producing Angelman
 Extensions and Modifications of Basic Principles 121

Table 5.4 Sex influences on heredity Anticipation

Phenotype
Another genetic phenomenon that is not explained by
Genetic Phenomenon Determined by
Mendel’s principles is anticipation, in which a genetic trait
becomes more strongly expressed or is expressed at an earlier
Sex-linked characteristic genes located on the sex age as it is passed from generation to generation. In the early
chromosome 1900s, several physicians observed that patients with moder-
Sex-influenced genes on autosomal ate to severe myotonic dystrophy — an autosomal dominant
characteristic chromosomes that are muscle disorder — frequently had ancestors who were only
more readily expressed mildly affected by the disease. These observations led to the
in one sex concept of anticipation. However, the concept quickly fell out
Sex-limited characteristic autosomal genes whose
of favor with geneticists because there was no obvious mech-
expression is limited to
anism to explain it; traditional genetics held that genes are
one sex
passed unaltered from parents to offspring. Geneticists
tended to attribute anticipation to observational bias.
Genetic maternal effect nuclear genotype of the
The results of recent research have reestablished antici-
maternal parent
pation as a legitimate genetic phenomenon. The mutation
Cytoplasmic inheritance cytoplasmic genes, which causing myotonic dystrophy consists of an unstable region
are usually inherited of DNA that can increase or decrease in size as the gene is
entirely from only passed from generation to generation, much like the gene
one parent that causes Huntington disease. The age of onset and the
Genomic imprinting genes whose expression severity of the disease are correlated with the size of the
is affected by the sex of unstable region; an increase in the size of the region
the transmitting parent through generations produces anticipation. The phenome-
non has now been implicated in several genetic diseases. We
will examine these interesting types of mutations in more
detail in Chapter 17.
syndrome. Children with Angelman syndrome exhibit fre-
quent laughter, uncontrolled muscle movement, a large
mouth, and unusual seizures. The deletion of segment Concepts
q11–13 from chromosome 15 has severe effects on the
Anticipation is the stronger or earlier expression
human phenotype, but the specific effects depend on which
of a genetic trait through succeeding generations.
parent contributes the deletion. For normal development to
It is caused by an unstable region of DNA that
take place, copies of segment q11–13 of chromosome 15
increases or decreases in size.
from both male and female parents are apparently required.
Several other human diseases also appear to exhibit
genomic imprinting. Although the precise mechanism of
this phenomenon is unknown, methylation of DNA — the Interaction Between Genes
addition of methyl (CH3) groups to DNA nucleotides (see
Chapters 10 and 16) — is essential to the process of genomic and Environment
imprinting, as demonstrated by the observation that mice In Chapter 3, we learned that each phenotype is the result of
deficient in DNA methylation do not exhibit imprinting. a genotype developing within a specific environment; the
Some of the ways in which sex interacts with heredity are genotype sets the potential for development, but how the
summarized in Table 5.4. phenotype actually develops within the limits imposed by
the genotype depends on environmental effects. Stated
another way, each genotype may produce several different
Concepts phenotypes, depending on the environmental conditions in
In genomic imprinting, the expression of a gene is which development occurs. For example, genotype GG may
influenced by the sex of the parent who transmits produce a plant that is 10 cm high when raised at 20°C, but
the gene to the offspring. the same genotype may produce a plant that is 18 cm high
when raised at 25°C. The range of phenotypes produced by
a genotype in different environments (in this case, plant
www.whfreeman.com/pierce Additional information about height) is called the norm of reaction ( ◗ FIGURE 5.18).
genomic imprinting, Prader-Willi syndrome, and For most of the characteristics discussed so far, the
Angelman syndrome effect of the environment on the phenotype has been slight.
122 Chapter 5

Average wing length (mm)

vg vg 

◗ 5.18 Norm of reaction is the range

of phenotypes produced by a geno-
type in different environments. This
vg vg  norm of reaction is for vestigial wings in
Drosophila melanogaster. (Data from M. H.
0 18° 19° 20° 21° 22° 23° 24° 25° 26° 27° 28° 29° 30° 31° Harnly, Journal of Experimental Zoology
Environmental temperature during development (Celsius scale) 56:363 – 379, 1936.)

Mendel’s peas with genotype yy, for example, developed Some types of albinism in plants are temperature
yellow endosperm regardless of the environment in which dependent. In barley, an autosomal recessive allele inhibits
they were raised. Similarly, persons with genotype IAIA have chlorophyll production, producing albinism when the
the A antigen on their red blood cells regardless of their plant is grown below 7°C. At temperatures above 18°C, a
diet, socioeconomic status, or family environment. For plant homozygous for the albino allele develops normal
other phenotypes, however, environmental effects play a chlorophyll and is green. Similarly, among Drosophila
more important role. melanogaster homozygous for the autosomal mutation ves-
tigial, greatly reduced wings develop at 25°C, but wings
Environmental Effects on Gene Expression near normal size develop at higher temperatures (see
The expression of some genotypes is critically dependent on Figure 5.18).
the presence of a specific environment. For example, the Environmental factors also play an important role in
himalayan allele in rabbits produces dark fur at the extremi- the expression of a number of human genetic diseases.
ties of the body — on the nose, ears, and feet ( ◗ FIGURE Glucose-6-phosphate dehydrogenase is an enzyme taking
5.19). The dark pigment develops, however, only when the part in supplying energy to the cell. In humans, there are a
rabbit is reared at 25°C or less; if a Himalayan rabbit is number of genetic variants of glucose-6-phosphate dehy-
reared at 30°C, no dark patches develop. The expression of drogenase, some of which destroy red blood cells when the
the himalayan allele is thus temperature dependent — an body is stressed by infection or by the ingestion of certain
enzyme necessary for the production of dark pigment is drugs or foods. The symptoms of the genetic disease appear
inactivated at higher temperatures. The pigment is normally only in the presence of these specific environmental factors.
restricted to the nose, feet, and ears of Himalayan rabbits Another genetic disease, phenylketonuria (PKU), is due
because the animal’s core body temperature is normally to an autosomal recessive allele that causes mental retarda-
above 25°C and the enzyme is functional only in the cells of tion. The disorder arises from a defect in an enzyme that
the relatively cool extremities. The himalayan allele is an normally metabolizes the amino acid phenylalanine. When
example of a temperature-sensitive allele, an allele whose this enzyme is defective, phenylalanine is not metabolized,
product is functional only at certain temperatures. and its buildup causes brain damage in children. A simple

◗ 5.19 The expression of some

genotypes depends on specific
environments. The expression of a
temperature-sensitive allele, himalayan,
is shown in rabbits reared at different
temperatures.

Reared at 20°C or less Reared at temperatures above 30°C

 Extensions and Modifications of Basic Principles 123

environmental change, putting an affected child on a low- appear continuous. Characteristics encoded by genes at many
phenylalanine diet, prevents retardation. loci are called polygenic characteristics.
These examples illustrate the point that genes and their The converse of polygeny is pleiotropy, in which one
products do not act in isolation; rather, they frequently gene affects multiple characteristics. Many genes exhibit
interact with environmental factors. Occasionally, environ- pleiotropy. PKU, mentioned earlier, results from a recessive
mental factors alone can produce a phenotype that is the allele; persons homozygous for this allele, if untreated,
same as the phenotype produced by a genotype; this pheno- exhibit mental retardation, blue eyes, and light skin color.
type is called a phenocopy. In fruit flies, for example, the Frequently the phenotypes of continuous characteristics
autosomal recessive mutation eyeless produces greatly are also influenced by environmental factors. Each genotype is
reduced eyes. The eyeless phenotype can also be produced by capable of producing a range of phenotypes — it has a
exposing the larvae of normal flies to sodium metaborate. relatively broad norm of reaction. In this situation, the partic-
ular phenotype that results depends on both the genotype and
the environmental conditions in which the genotype develops.
Concepts For example, there may be only three genotypes coding for a
The expression of many genes is modified by the
characteristic, but, because each genotype has a broad norm
environment. The range of phenotypes produced
of reaction, the phenotype of the character exhibits a continu-
by a genotype in different environments is called
ous distribution. Many continuous characteristics are both
the norm of reaction. A phenocopy is a trait
polygenic and influenced by environmental factors; such char-
produced by environmental effects that mimics the
acteristics are called multifactorial because many factors help
phenotype produced by a genotype.
determine the phenotype.
The inheritance of continuous characteristics may
appear to be complex, but the alleles at each locus follow
Mendel’s principles and are inherited in the same way as
The Inheritance of Continuous Characteristics alleles coding for simple, discontinuous characteristics.
So far, we’ve dealt primarily with characteristics that have However, because many genes participate, environmental
only a few distinct phenotypes. In Mendel’s peas, for exam- factors influence the phenotype, and the phenotypes do not
ple, the seeds were either smooth or wrinkled, yellow or sort out into a few distinct types, we cannot observe the dis-
green; the coats of dogs were black, brown, or yellow; blood tinct ratios that have allowed us to interpret the genetic
types were of four distinct types, A, B, AB, or O. Character- basis of discontinuous characteristics. To analyze continu-
istics such as these, which have a few easily distinguished ous characteristics, we must employ special statistical tools,
phenotypes, are called discontinuous characteristics. as will be discussed in Chapter 22.
Not all characteristics exhibit discontinuous pheno-
types. Human height is an example of such a character;
people do not come in just a few distinct heights but, rather, Concepts
display a continuum of heights. Indeed, there are so many
possible phenotypes of human height that we must use a Discontinuous characteristics exhibit a few distinct
measurement to describe a person’s height. Characteristics phenotypes; continuous characteristics exhibit a
that exhibit a continuous distribution of phenotypes are range of phenotypes. A continuous characteristic
termed continuous characteristics. Because such charac- is frequently produced when genes at many loci
teristics have many possible phenotypes and must be and environmental factors combine to determine
described in quantitative terms, continuous characteristics a phenotype.
are also called quantitative characteristics.
Continuous characteristics frequently arise because
genes at many loci interact to produce the phenotypes. When
Connecting Concepts Across Chapters
a single locus with two alleles codes for a characteristic, there
are three genotypes possible: AA, Aa, and aa. With two loci, This chapter introduced a number of modifications and
each with two alleles, there are 32  9 genotypes possible. extensions of the basic concepts of heredity that we
The number of genotypes coding for characteristic is 3n, learned in Chapter 3. A major theme has been gene
where n equals the number of loci with two alleles that influ- expression: how interactions between genes, interactions
ence the characteristic. For example, when a characteristic between genes and sex, and interactions between genes
is determined by eight loci, each with two alleles, there are and the environment affect the phenotypic expression of
38  6561 different genotypes possible for this character. If genes. The modifications and extensions discussed in this
each genotype produces a different phenotype, many pheno- chapter do not alter the way that genes are inherited, but
types will be possible. The slight differences between the phe- they do modify the way in which the genes determine the
notypes will be indistinguishable, and the characteristic will phenotype.
124 Chapter 5

A number of topics introduced in this chapter will be molecular nature of anticipation will be examined in
explored further in other chapters of the book. Here we more detail in Chapter 17, and DNA methylation, the
have purposefully ignored many aspects of the nature of basis of genomic imprinting, will be discussed in Chapter
gene expression because our focus has been on the 10. Complementation testing will be revisited in Chapter
“big picture” of how these interactions affect phenotypic 8, and the role of multiple genes and environmental fac-
ratios in genetic crosses. In subsequent chapters, we will tors in the inheritance of continuous characteristics will
explore the molecular details of gene expression, includ- be studied more thoroughly in Chapter 22.
ing transcription (Chapter 13), translation (Chapter 15),
and the control of gene expression (Chapter 16). The

CONCEPTS SUMMARY

• Dominance always refers to genes at the same locus • Sex-influenced characteristics are encoded by autosomal genes
(allelic genes) and can be understood in regard to how the that are expressed more readily in one sex.
phenotype of the heterozygote relates to the phenotypes of the • Sex-limited characteristics are encoded by autosomal genes
homozygotes. expressed in only one sex. Both males and females possess sex-
• Dominance is complete when a heterozygote has the same limited genes and transmit them to their offspring.
phenotype as a homozygote. Dominance is incomplete when • In cytoplasmic inheritance, the genes for the characteristic are
the heterozygote has a phenotype intermediate between those found in the cytoplasm and are usually inherited from a single
of two parental homozygotes. Codominance is the result when (usually maternal parent).
the heterozygote exhibits traits of both parental homozygotes.
• Genetic maternal effect is present when an offspring inherits
• The type of dominance does not affect the inheritance of an genes from both parents, but the nuclear genes of the mother
allele; it does affect the phenotypic expression of the allele. The determine the offspring’s phenotype.
classification of dominance may depend on the level of the
• Genomic imprinting refers to characteristics encoded by
phenotype examined.
autosomal genes whose expression is affected by the sex of the
• Lethal alleles cause the death of an individual possessing them, parent transmitting the genes.
usually at an early stage of development, and may • Anticipation refers to a genetic trait that is more strongly
alter phenotypic ratios. expressed or is expressed at an earlier age in succeeding
• Multiple alleles refers to the presence of more than two alleles generations.
at a locus within a group. Their presence increases the number • Phenotypes are often modified by environmental effects. The
of genotypes and phenotypes possible. range of phenotypes that a genotype is capable of producing
• Gene interaction refers to interaction between genes at in different environments is the norm of reaction. A
different loci to produce a single phenotype. An epistatic gene phenocopy is a phenotype produced by an environmental
at one locus suppresses or masks the expression of hypostatic effect that mimics a phenotype produced by a genotype.
genes at different loci. Gene interaction frequently produces • Discontinuous characteristics are characteristics with a few
phenotypic ratios that are modifications of dihybrid ratios. distinct phenotypes; continuous characteristics are those
• A complementation test, in which individuals homozygous for that exhibit a wide range of phenotypes. Continuous
different mutations are crossed, can be used to determine if the characteristics are frequently produced by the combined effects
mutations occur at the same locus or at different loci. of many genes and environmental effects.

IMPORTANT TERMS

codominance (p. 103) complementation (p. 115) genomic imprinting (p. 120) continuous characteristic
lethal allele (p. 104) sex-influenced characteristic anticipation (p. 121) (p. 123)
multiple alleles (p. 105) (p. 115) norm of reaction (p. 121) quantitative characteristic
gene interaction (p. 107) sex-limited characteristic temperature-sensitive allele (p. 123)
epistasis (p. 108) (p. 116) (p. 122) polygenic characteristic (p. 123)
epistatic gene (p. 108) cytoplasmic inheritance phenocopy (p. 123) pleiotropy (p. 123)
hypostatic gene (p. 108) (p. 118) discontinuous characteristic multifactorial characteristic
complementation test (p. 114) genetic maternal effect (p. 119) (p. 123) (p. 123)
 Extensions and Modifications of Basic Principles 125

Worked Problems
1. The type of plumage found in mallard ducks is determined by M Rmd  M RM
(c) Parents
three alleles at a single locus: MR, which codes for restricted
plumage; M, which codes for mallard plumage; and md, which
codes for dusky plumage. The restricted phenotype is dominant Gametes M R md MR M
over mallard and dusky; mallard is dominant over dusky (MR 
M  md). Give the expected phenotypes and proportions of off-
MR M
spring produced by the following crosses.
M RM R M RM
MR
restricted restricted
(a) MRM  mdmd M Rmd Mmd
(b) MRmd  Mmd md
restricted mallard
(c) MRmd  MRM
3 restricted, 1 mallard
MRM  Mmd
4 4
(d)

(d) Parents M RM  Mmd

• Solution
We can determine the phenotypes and proportions of offspring Gametes MR M M md
by (1) determining the types of gametes produced by each
parent and (2) combining the gametes of the two parents with M md
the use of a Punnett square
M RM M Rmd
MR
restricted restricted

(a) Parents M RM  mdmd MM Mmd

M
mallard mallard
1
2 restricted, 1
2 mallard
Gametes MR M md

2. A homozygous strain of yellow corn is crossed with a

MR M
homozygous strain of purple corn. The F1 are intercrossed,
M m R d Mm d producing an ear of corn with 119 purple kernels and 89 yellow
md kernels (the progeny).
restricted mallard
1
2 restricted, 1
2 mallard (a) What is the genotype of the yellow kernels?
(b) Give a genetic explanation for the differences in
kernel color in this cross.
(b) Parents M Rmd  Mmd
• Solution
(a) We should first consider whether the cross between yellow
Gametes M R md M md and purple strains might be a monohybrid cross for a simple
dominant trait, which would produce a 3:1 ratio in the F2 (Aa 
M md Aa : 34 A_ and 14 aa). Under this hypothesis, we would expect
156 purple progeny and 52 yellow progeny:
M RM M Rmd
MR
restricted restricted
Observed Expected
Mm d d
mm d Phenotype Genotype number number
md purple A_ 119 3
4  208 156
mallard dusky
yellow aa 89 1
4  208  52
1
2 restricted, 1
4 mallard, 1
4 dusky total 208
126 Chapter 5

We see that the expected numbers do not closely fit the observed A_B_
9
16
numbers. If we performed a chi-square test (see Chapter 3), we 3
16
A_bb
would obtain a calculated chi-square value of 35.08, which has a
aaB_
3
16
probability much less than 0.05, indicating that it is extremely
unlikely that, when we expect a 3:1 ratio, we would obtain 119 aabb
1
16
purple progeny and 89 yellow progeny. Therefore we can reject the
hypothesis that these results were produced by a monohybrid cross. Because 916 of the progeny from the corn cross are purple,
Another possible hypothesis is that the observed F2 progeny purple must be produced by genotypes A_B_; in other words,
are in a 1:1 ratio. However, we learned in Chapter 3 that a 1:1 ratio individual kernels that have at least one dominant allele at the
is produced by a cross between a heterozygote and a homozygote first locus and at least one dominant allele at the second locus
(Aa  aa) and, from the information given, the cross was not are purple. The proportions of all the other genotypes (A_bb,
between a heterozygote and a homozygote, because the original aaB_, and aabb) sum to 716, which is the proportion of the
parental strains were both homozygous. Furthermore, a chi-square progeny in the corn cross that are yellow, so any individual
test comparing the observed numbers with an expected 1:1 ratio kernel that does not have a dominant allele at both the first
yields a calculated chi-square value of 4.32, which has a probability and the second locus is yellow.
of less than .05. (b) Kernel color is an example of duplicate recessive epistasis,
Next, we should look to see if the results can be explained where the presence of two recessive alleles at either the first
by a dihybrid cross (AaBb  AaBb). A dihybrid cross results in locus or the second locus or both suppresses the production of
phenotypic proportions that are in sixteenths. We can apply the purple pigment.
formula given earlier in the chapter to determine the number of
sixteenths for each phenotype: 3. A geneticist crosses two yellow mice with straight hair and
obtains the following progeny:
number of progeny with a phenotype  16
x
total number of progeny 1
2 yellow, straight
119  16 1
6 yellow, fuzzy
x(purple)   9.15
208 1
4 gray, straight
89  16 1
12 gray, fuzzy
x(yellow)   6.85
208
(a) Provide a genetic explanation for the results and assign
Thus, purple and yellow appear approximately a 9:7 ratio. We genotypes to the parents and progeny of this cross.
can test this hypothesis with a chi-square test: (b) What additional crosses might be carried out to determine if
your explanation is correct?
Observed Expected
Phenotype Genotype number number
purple ? 119 9
16  208  117 • Solution
yellow ? 89 7
16  208  91 (a) This cross concerns two separate characteristics — color
total 208 and type of hair; so we should begin by examining the results
for each characteristic separately. First, let’s look at the
(observed  expected)2 (119  117)2 (89  91)2 inheritance of color. Two yellow mice are crossed producing
2    
expected 117 91 1
2  16  36  16  46  23 yellow mice and 14  112  312 
1
12  412  13 gray mice. We learned in this chapter that a 2:1
 0.034  0.44  0.078 ratio is often produced when a recessive lethal gene is present:
Degree of freedom  n  1 = 2  1  1
P > .05 Yy  Yy
s
The probability associated with the chi-square value is greater p
than .05, indicating that there is a relatively good fit between YY 1
4 die
the observed results and a 9:7 ratio.
We now need to determine how a dihybrid cross can produce Yy 1
2 yellow, becomes 23
a 9:7 ratio and what genotypes correspond to the two phenotypes. yy 1
4 gray, becomes 13
A dihybrid cross without epistasis produces a 9:3:3:1 ratio:
Now, let’s examine the inheritance of the hair type.
AaBb  AaBb Two mice with straight hair are crossed, producing 12  14  24
s  14  34 mice with straight hair and 16  112  212  112 
p 3
12  14 mice with fuzzy hair. We learned in Chapter 3 that a
 Extensions and Modifications of Basic Principles 127

3:1 ratio is usually produced by a cross between two individuals let H represent the allele that codes for horns and H represent
heterozygous for a simple dominant allele: the allele for hornless. In males, the allele for horns is dominant
over the allele for hornless, which means that males homozygous
Ss  Ss
(HH) and heterozygous (HH) for this gene are horned. Only
s males homozygous for the recessive hornless allele (HH) will
p
be hornless. In females, the allele for horns is recessive, which
SS 1
4 straight
Ss 1
2 straight } 4 straight
3
means that only females homozygous for this allele (HH) will be
horned; females heterozygous (HH) and homozygous (HH)
ss 1
4 fuzzy for the hornless allele will be hornless. The following table
summarizes genotypes and associated phenotypes:
We can now combine both loci and assign genotypes to all the
individuals in the cross: Genotype Male phenotype Female phenotype
HH horned horned
P yellow, straight  yellow, straight
HH horned hornless
YySs YySs
HH hornless hornless
s
p
In the problem, a horned female is crossed with a hornless male.
Probability at Combined From the preceding table, we see that a horned female must be
Phenotype Genotype each locus probability homozygous for the allele for horns (HH) and a hornless male
yellow, straight YyS_ 2
3  34  612  12 must be homozygous for the allele for hornless (HH); so all
yellow, fuzzy Yyss 2
3  14  212  16 the F1 will be heterozygous; the F1 males will be horned and the
gray, straight yyS_ 1
3  34  312  14 F1 females will be hornless, as shown below:
gray, fuzzy yyss 1
3  14  112
P HH  HH
(b) We could carry out a number of different crosses to test our
hypothesis that yellow is a recessive lethal and straight is dominant s
p
over fuzzy. For example, a cross between any two yellow
individuals should always produce 23 yellow and 13 gray, and a F1 HH HH
cross between two gray individuals should produce all horned males and hornless females
gray offspring. A cross between two fuzzy individuals should
always produce all fuzzy offspring. A heterozygous hornless F1 female (HH) is then crossed with a
4. In some sheep, the presence of horns is produced by an hornless male (HH):
autosomal allele that is dominant in males and recessive in HH  HH
females. A horned female is crossed with a hornless male. One of
the resulting F1 females is crossed with a hornless male. What horned female hornless male
proportion of the male and female progeny from this cross will s
have horns? p
Males Females
• Solution 1
2 HH hornless hornless
The presence of horns in these sheep is an example of a sex- 1
2 HH horned hornless
influenced characteristic. Because the phenotypes associated with
the genotypes differ for the two sexes, let’s begin this problem by Therefore, 12 of the male progeny will be horned but none of
writing out the genotypes and phenotypes for each sex. We will the female progeny will be horned.

COMPREHENSION QUESTIONS

* 1. How do incomplete dominance and codominance differ? * 7. What characteristics are exhibited by a cytoplasmically
* 2. Explain how dominance and epistasis differ. inherited trait?
3. What is a recessive epistatic gene? 8. What is the difference between genetic maternal effect and
4. What is a complementation test and what is it used for? genomic imprinting?
* 5. What is genomic imprinting? 9. What is the difference between a sex-influenced gene and a
gene that exhibits genomic imprinting?
6. What characteristics do you expect to see in a trait that
exhibits anticipation? * 10. What are continuous characteristics and how do they arise?
 128 Chapter 5

APPLICATION QUESTIONS AND PROBLEMS

* 11. Palomino horses have a golden yellow coat, chestnut 15. If there are five alleles at a locus, how many genotypes
horses have a brown coat, and cremello horses have a coat may there be at this locus? How many different kinds of
that is almost white. A series of crosses between the three homozygotes will there be? How many genotypes and
different types of horses produced the following offspring: homozygotes would there be with eight alleles?
16. Turkeys have black, bronze, or black-bronze plumage.
Cross Offspring
Examine the results of the following crosses:
palomino  palomino 13 palomino, 6 chestnut,
5 cremello Parents Offspring
chestnut  chestnut 16 chestnut Cross 1: black and bronze all black
cremello  cremello 13 cremello Cross 2: black and black 3
4 black, 14 bronze
palomino  chestnut 8 palomino, 9 chestnut Cross 3: black-bronze and all black-bronze
palomino  cremello 11 palomino, 11 cremello black-bronze
chestnut  cremello 23 palomino Cross 4: black and bronze 1
2 black, 14 bronze,
1
4 black-bronze
(a) Explain the inheritance of the palomino, chestnut, and Cross 5: bronze and 1
2 bronze, 12 black-bronze
cremello phenotypes in horses. black-bronze
(b) Assign symbols for the alleles that determine these Cross 6: bronze and bronze 4 bronze, 14 black-bronze
3

phenotypes, and list the genotypes of all parents and Do you think these differences in plumage arise from
offspring given in the preceding table. incomplete dominance between two alleles at a single
* 12. The LM and LN alleles at the MN blood group locus locus? If yes, support your conclusion by assigning
exhibit codominance. Give the expected genotypes and symbols to each allele and providing genotypes for all
phenotypes and their ratios in progeny resulting from the turkeys in the crosses. If your answer is no, provide an
following crosses. alternative explanation and assign genotypes to all turkeys
in the crosses.
(a) LMLM  LMLN
17. In rabbits, an allelic series helps to determine coat color:
(b) LNLN  LNLN
C (full color), c ch (chinchilla, gray color), c h (himalayan,
(c) LMLN  LMLN white with black extremities), and c (albino, all white). The
(d) LMLN  LNLN C allele is dominant over all others, c ch is dominant over
(e) LMLM  LNLN c h and c, c h is dominant over c, and c is recessive to all the
other alleles. This dominance hierarchy can be
13. In the pearl millet plant, color is determined by three summarized as C  c ch  c h  c. The rabbits in the
alleles at a single locus: Rp1 (red), Rp2 (purple), and rp following list are crossed and produce the progeny shown.
(green). Red is dominant over purple and green, and Give the genotypes of the parents for each cross:
purple is dominant over green (Rp1  Rp2  rp). Give the
expected phenotypes and ratios of offspring produced by Phenotypes Phenotypes
the following crosses. of parents of offspring
(a) Rp1/Rp2  Rp1/rp (a) full color  albino 1
2 full color, 12 albino
(b) Rp1/rp  Rp2/rp (b) himalayan  albino 1
2 himalayan, 12 albino
(c) Rp1/Rp2  Rp1/Rp2 (c) full color  albino 1
2 full color, 12 chinchilla
(d) Rp2/rp  rp/rp (d) full color  himalayan 1
2 full color, 14 himalayan,
1
4 albino
(e) rp/rp  Rp1/Rp2
(e) full color  full color 3
4 full color, 4 albino
1

* 14. Give the expected genotypic and phenotypic ratios for the
following crosses for ABO blood types. 18. In this chapter we considered Joan Barry’s paternity suit
against Charlie Chaplin and how, on the basis of blood
(a) IAi  IBi types, Chaplin could not have been the father of her child.
(b) IAIB  IAi
(a) What blood types are possible for the father of
(c) IAIB  IAIB Barry’s child?
(d) ii  IAi (b) If Chaplin had possessed one of these blood types,
(e) IAIB  ii would that prove that he fathered Barry’s child?
 Extensions and Modifications of Basic Principles 129

* 19. A woman has blood type A MM. She has a child with (b) Does epistasis account for eye color in Oriental fruit
blood type AB MN. Which of the following blood types flies? If so, which gene is epistatic and which gene is
could not be that of the child’s father? Explain your hypostatic?
reasoning.
23. A variety of opium poppy (Papaver somniferum L.) having
lacerate leaves was crossed with a variety that has normal
George O NN
leaves. All the F1 had lacerate leaves. Two F1 plants were
Tom AB MN
interbred to produce the F2. Of the F2, 249 had lacerate
Bill B MN
leaves and 16 had normal leaves. Give genotypes for all the
Claude A NN
plants in the P, F1, and F2 generations. Explain how lacerate
Henry AB MM
leaves are determined in the opium poppy.
20. Allele A is epistatic to allele B. Indicate whether each of the * 24. A dog breeder liked yellow and brown Labrador retrievers. In
following statements is true or false. Explain why. an attempt to produce yellow and brown puppies, he bought
a yellow Labrador male and a brown Labrador female and
(a) Alleles A and B are at the same locus. mated them. Unfortunately, all the puppies produced in this
(b) Alleles A and B are at different loci. cross were black. (See p. 000 for a discussion of the genetic
(c) Alleles A and B are always located on the same basis of coat color in Labrador retrievers.)
chromosome. (a) Explain this result.
(d) Alleles A and B may be located on different, (b) How might the breeder go about producing yellow
homologous chromosomes. and brown Labradors?
(e) Alleles A and B may be located on different, 25. When a yellow female Labrador retriever was mated with a
nonhomologous chromosomes. brown male, half of the puppies were brown and half were
* 21. In chickens, comb shape is determined by alleles at two yellow. The same female, when mated with a different brown
loci (R, r and P, p). A walnut comb is produced when at male, produced all brown males. Explain these results.
least one dominant allele R is present at one locus and at * 26. In summer squash, a plant that produces disc-shaped fruit
least one dominant allele P is present at a second locus is crossed with a plant that produces long fruit. All the F1
(genotype R_ P_). A rose comb is produced when at least have disc-shaped fruit. When the F1 are intercrossed, F2
one dominant allele is present at the first locus and two progeny are produced in the following ratio: 916 disc-
recessive alleles are present at the second locus (genotype shaped fruit: 616 spherical fruit: 116 long fruit. Give the
R_pp). A pea comb is produced when two recessive alleles genotypes of the F2 progeny.
are present at the first locus and at least one dominant 27. In sweet peas, some plants have purple flowers and other
allele is present at the second (genotype rrP_). If two plants have white flowers. A homozygous variety of pea
recessive alleles are present at the first and at the second that has purple flowers is crossed with a homozygous
locus (rrpp), a single comb is produced. Progeny with variety that has white flowers. All the F1 have purple
what types of combs and in what proportions will result flowers. When these F1 are self-fertilized, the F2 appear
from the following crosses? in a ratio of 916 purple to 716 white.
(a) RRPP  rrpp (a) Give genotypes for the purple and white flowers in
(b) RrPp  rrpp these crosses.
(c) RrPp  RrPp (b) Draw a hypothetical biochemical pathway to explain
(d) Rrpp  Rrpp the production of purple and white flowers in sweet peas.
(e) Rrpp  rrPp 28. For the following questions, refer to p. 000 for a discussion
(f) Rrpp  rrpp of how coat color and pattern are determined in dogs.

* 22. Eye color of the Oriental fruit fly (Bactrocera dorsalis) is (a) Explain why Irish setters are reddish in color.
determined by a number of genes. A fly having wild-type (b) Will a cross between a beagle and a Dalmatian produce
eyes is crossed with a fly having yellow eyes. All the F1 flies puppies with ticking? Why or why not?
from this cross have wild-type eyes. When the F1 are (c) Can a poodle crossed with any other breed produce
interbred, 916 of the F2 progeny have wild-type eyes, 316 spotted puppies? Why or why not?
have amethyst eyes (a bright, sparkling blue color), and 416 (d) If a St. Bernard is crossed with a Doberman, will the
have yellow eyes. offspring have solid, yellow, saddle, or bicolor coats?
(a) Give genotypes for all the flies in the P, F1, and F2 (e) If a Rottweiler is crossed with a Labrador retriever, will
generations. the offspring have solid, yellow, saddle, or bicolor coats?
130 Chapter 5

*29. When a Chinese hamster with white spots is crossed with (d) At least some of the offspring produced by Martha
another hamster that has no spots, approximately 12 of the must be sinistral.
offspring have white spots and 12 have no spots. When two (e) Martha’s mother must have been sinistral.
hamsters with white spots are crossed, 23 of the offspring
(f) All Martha’s brothers must be sinistral.
possess white spots and 13 have no spots.
(a) What is the genetic basis of white spotting in Chinese 34. In unicorns, two autosomal loci interact to determine the
hamsters? type of tail. One locus controls whether a tail is present at
all; the allele for a tail (T) is dominant over the allele for
(b) How might you go about producing Chinese hamsters
tailless (t). If a unicorn has a tail, then alleles at a second
that breed true for white spotting?
locus determine whether the tail is curly or straight.
30. Male-limited precocious puberty results from a rare, sex- Farmer Baldridge has two unicorns with curly tails. When
limited autosomal allele (P) that is dominant over the allele he crosses these two unicorns, 12 of the progeny have curly
for normal puberty (p) and is expressed only in males. Bill tails, 14 have straight tails, and 14 do not have a tail. Give
undergoes precocious puberty, but his brother Jack and his the genotypes of the parents and progeny in Farmer
sister Beth underwent puberty at the usual time, between Baldridge’s cross. Explain how he obtained the 2:1:1
the ages of 10 and 14. Although Bill’s mother and father phenotypic ratio in his cross.
underwent normal puberty, two of his maternal uncles (his * 35. Phenylketonuria (PKU) is an autosomal recessive disease
mother’s brothers) underwent precocious puberty. All of that results from a defect in an enzyme that normally
Bill’s grandparents underwent normal puberty. Give the metabolizes the amino acid phenylalanine. When this
most likely genotypes for all the relatives mentioned in this enzyme is defective, high levels of phenylalanine cause
family. brain damage. In the past, most children with PKU
*31. Pattern baldness in humans is a sex-influenced trait that is became mentally retarded. Fortunately, mental retardation
autosomal dominant in males and recessive in females. Jack can be prevented in these children today by carefully
has a full head of hair. JoAnn also has a full head of hair, controlling the amount of phenylalanine in the diet. As a
but her mother is bald. (In women, pattern baldness is result of this treatment, many people with PKU are now
usually expressed as a thinning of the hair.) If Jack and reaching reproductive age with no mental retardation. By
JoAnn marry, what proportion of their children are the end of the teen years, when brain development is
expected to be bald? complete, many people with PKU go off the restrictive
diet. Children born to women with PKU (who are no
32. In goats, a beard is produced by an autosomal allele that is
longer on a phenylalanine-restricted diet) frequently have
dominant in males and recessive in females. We’ll use the
low birth weight, developmental abnormalities, and mental
symbol Bb for the beard allele and B for the beardless
retardation, even though they are heterozygous for the
allele. Another independently assorting autosomal allele
recessive PKU allele. However, children of men with PKU
that produces a black coat (W) is dominant over the allele
do not have these problems. Provide an explanation for
for white coat (w). Give the phenotypes and their expected
these observations.
proportions for the following crosses.
36. In 1983, a sheep farmer in Oklahoma noticed a ram in
(a) BBb Ww male  BBb Ww female
his flock that possessed increased muscle mass in his
(b) BBb Ww male  BBb ww female hindquarters. Many of the offspring of this ram possessed
(c) BB Ww male  BbBb Ww female the same trait, which became known as the callipyge mutant
(callipyge is Greek for “beautiful buttocks”). The mutation
(d) BBb Ww male  BbBb ww female
that caused the callipyge phenotype was eventually mapped
33. In the snail Limnaea peregra, shell coiling results from to a position on the sheep chromosome 18.
a genetic maternal effect. An autosomal allele for a right- When the male callipyge offspring of the original
handed shell (s), called dextral, is dominant over the allele mutant ram were crossed with normal females, they
for a left-handed shell (s), called sinistral. A pet snail called produced the following progeny: 14 male callipyge, 14
Martha is sinistral and reproduces only as a female (the female callipyge, 14 male normal, and 14 female normal.
snails are hermaphroditic). Indicate which of the following When female callipyge offspring of the original mutant
statements are true and which are false. Explain your ram were crossed with normal males, all of the offspring
reasoning in each case. were normal. Analysis of the chromosomes of these
offspring of callipyge females showed that half of them
(a) Martha’s genotype must be ss.
received a chromosome 18 with the callipyge gene from
(b) Martha’s genotype cannot be ss. their mother. Propose an explanation for the inheritance
(c) All the offspring produced by Martha must be of the callipyge gene. How might you test your
sinistral. explanation?
 Extensions and Modifications of Basic Principles 131

CHALLENGE QUESTION

37. Suppose that you are tending a mouse colony at a genetics with normal-eared male — the reciprocal crosses give
research institute and one day you discover a mouse with different results. Describe how you would go about
twisted ears. You breed this mouse with twisted ears and determining whether this trait results from a sex-linked
find that the trait is inherited. Both male and female mice gene, a sex-influenced gene, a genetic maternal effect, a
have twisted ears, but when you cross a twisted-eared male cytoplasmically inherited gene, or genomic imprinting.
with a normal-eared female, you obtain different results What crosses would you conduct and what results would be
from those obtained when you cross a twisted-eared female expected with these different types of inheritance?

SUGGESTED READINGS

Barlow, D. P. 1995. Gametic imprinting in mammals. Science Shoffner, J. M., and D. C. Wallace. 1992. Mitochondrial genetics:
270:1610 – 1613. principles and practice [Invited editorial]. American Journal of
Discusses the phenomenon of genomic imprinting. Human Genetics 51:1179 – 1186.
Harper, P. S., H. G. Harley, W. Reardon, and D. J. Shaw. 1992. Discusses the characteristics of cytoplasmically inherited
mitochondrial mutations.
Anticipation in myotonic dystrophy: new light on an old
problem [Review]. American Journal of Human Genetics Skuse, D. H., R. S. James, D. V. M. Bishop, B. Coppin, P. Dalton,
51:10 – 16. G. Aamodt-Leeper, M. Bacarese-Hamilton, C. Creswell, R.
A nice review of the history of anticipation. McGurk, and P. A. Jacobs. 1997. Evidence from Turner’s
syndrome of an imprinted X-linked locus affecting cognitive
Li, E., C. Beard, and R. Jaenisch. 1993. Role for DNA function. Nature 387:705 – 708.
methylation in genomic imprinting. Nature 366:362 – 365.
Report of imprinting in Turner syndrome.
Reviews some of the evidence that DNA methylation is
implicated in genomic imprinting. Thomson, G., and M. S. Esposito. 1999. The genetics of complex
diseases. Trends in Genetics 15:M17 – M20.
Morell, V. 1993. Huntington’s gene finally found. Science
Discussion of human multifactorial diseases and the effect of
260:28 – 30.
the Human Genome Project on the identification of genes
Report on the discovery of the gene that causes Huntington influencing these diseases.
disease.
Wallace, D. C. 1989. Mitochondrial DNA mutations and
Ostrander, E. A., F. Galibert, and D. F. Patterson. 2000. Canine neuromuscular disease. Trends in Genetics 5:9 – 13.
genetics comes of age. Trends in Genetics 16:117 – 123.
More discussion of cytoplasmically inherited mitochondrial
Review of the use of dog genetics for understanding human mutations.
genetic diseases.
Willis, M. B. 1989. Genetics of the Dog. London: Witherby.
Pagel, M. 1999. Mother and father in surprise agreement. Nature
A comprehensive review of canine genetics.
397:19 – 20.
Discusses some of the possible evolutionary reasons for
genomic imprinting.
Sapienza, C. 1990. Parental imprinting of genes. Scientific
American 263 (October):52 – 60.
Another review of genomic imprinting.