Mendel and the Gene Idea

PowerPoint Lectures for

Biology, Seventh Edition
Neil Campbell and Jane Reece

Lectures by Chris Romero

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• Gregor Mendel

– Documented a particulate mechanism of inheritance through his

experiments with garden peas

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 • Mendel used the scientific approach to identify two laws of inheritance

• Mendel discovered the basic principles of heredity

– By breeding garden peas in carefully planned experiments

• Mendel chose to work with peas

– Because they are available in many varieties

– Because he could strictly control which plants mated with which

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 • Crossing pea plants
1 Removed stamens
from purple flower
2 Transferred sperm-
bearing pollen from
TECHNIQUE
stamens of white
flower to egg-
APPLICATION By crossing (mating) two true- bearing carpel of
breeding varieties of an organism, scientists can purple flower
study patterns of inheritance. In this example,
Mendel crossed pea plants that varied in flower Parental
generation
color. (P)
Stamens
Carpel (male)
3 Pollinated carpel (female)
matured into pod
RESULTS

When pollen from a white flower fertilizes

4 Planted seeds
eggs of a purple flower, the first-generation hybrids from pod
all have purple flowers. The result is the same for
the reciprocal cross, the transfer of pollen from 5 Examined
First offspring:
purple flowers to white flowers. generation all purple
offspring flowers
(F1)

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• Some genetic vocabulary

– Character: a heritable feature, such as flower color

– Trait: a variant of a character, such as purple or white flowers

• Mendel chose to track only those characters that varied in an “either-

or” manner

• Mendel also made sure that he started his experiments with varieties
that were “true-breeding”
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 Useful Genetic Vocabulary
• An organism that is homozygous for a particular gene

– Has a pair of identical alleles for that gene

– Exhibits true-breeding

• An organism that is heterozygous for a particular gene

– Has a pair of alleles that are different for that gene

• An organism’s phenotype

– Is its physical appearance

• An organism’s genotype

– Is its genetic makeup

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• In a typical breeding experiment

– Mendel mated two contrasting, true-breeding

varieties, a process called hybridization

• The true-breeding parents are called the P generation

• The hybrid offspring of the P generation are called the

F1 generation

• When F1 individuals self-pollinate, the F2 generation is

produced
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 • Phenotype versus genotype
Phenotype Genotype
Purple PP
1
(homozygous)

Pp
3 Purple (heterozygous)
2
Pp
(heterozygous)
Purple

pp
1 White 1
(homozygous)

Ratio 3:1 Ratio 1:2:1

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 The Law of Dominance

• When Mendel crossed contrasting, true-breeding white and

purple flowered pea plants

– All of the offspring were purple

• When Mendel crossed the F1 plants

– Many of the plants had purple flowers, but some had white
flowers

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 • Mendel discovered
– A ratio of about three to one, purple to white flowers, in the F 2 generation
EXPERIMENT True-breeding purple-flowered pea
plants and white-flowered pea plants were crossed P Generation

(symbolized by ). The resulting F1 hybrids were (true-breeding
Purple White
parents)
flowers flowers
allowed to self-pollinate or were cross-pollinated with
other F1 hybrids. Flower color was then observed
F1 Generation
in the F2 generation. (hybrids)
RESULTS Both purple-flowered plants and white- All plants had
purple flowers
flowered plants appeared in the F2 generation. In
Mendel’s experiment, 705 plants had purple F2 Generation
flowers, and 224 had white flowers, a ratio of about
3 purple : 1 white.

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• Mendel reasoned that

– In the F1 plants, only the purple

flower factor was affecting flower
color in these hybrids

– Purple flower color was dominant,

and white flower color was recessive

• Mendel observed the same pattern

– In many other pea plant characters

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 Mendel’s Model

• Mendel developed a hypothesis

– To explain the 3:1 inheritance pattern that he observed among the

F2 offspring

• Four related concepts make up this model

1. Alternative versions of genes account for variations in inherited characters, which are now called alleles

2. For each character an organism inherits two alleles, one from each parent. A genetic locus is actually
represented twice

3. If the two alleles at a locus differ then one, the dominant allele, determines the organism’s appearance. The other
allele, the recessive allele, has no noticeable effect on the organism’s appearance

4. Law of segregation: The two alleles for a heritable character separate (segregate) during gamete
formation and end up in different gametes

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 Each true-breeding plant of the
P Generation
parental generation has identical
alleles, PP or pp. 
Appearance: Purple flowers White flowers
• Does Mendel’s segregation Gametes (circles) each contain only
Genetic makeup: PP
one allele for the flower-color gene. pp
In this case, every gamete produced
model account for the 3:1 ratio by one parent has the same allele.
Gametes: P p

he observed in the F2
Union of the parental gametes
produces F1 hybrids having a Pp
generation of his numerous combination. Because the purple- F1 Generation
flower allele is dominant, all
crosses? these hybrids have purple flowers. Appearance:
Genetic makeup: Purple flowers
When the hybrid plants produce Pp
gametes, the two alleles segregate, Gametes: 1
/2 P 1
/2 p
– We can answer this half the gametes receiving the P
allele and the other half the p allele.
question using a Punnett F1 sperm
This box, a Punnett square, shows
all possible combinations of alleles
square in offspring that result from an
P p
F1  F1 (Pp  Pp) cross. Each square F2 Generation
represents an equally probable product P
of fertilization. For example, the bottom PP Pp
left box shows the genetic combination F1 eggs
resulting from a p egg fertilized by
a P sperm.
p
Pp pp
Random combination of the gametes
results in the 3:1 ratio that Mendel
observed in the F2 generation. 3 :1
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 The Testcross
• In pea plants with purple flowers
– The genotype is not immediately obvious

• A testcross
– Allows us to determine the genotype of an organism with the
dominant phenotype, but unknown genotype
– Crosses an individual with the dominant phenotype with an
individual that is homozygous recessive for a trait

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 • The testcross
APPLICATION An organism that exhibits a dominant trait,
such as purple flowers in pea plants, can be either
homozygous for the dominant allele or heterozygous. 
To determine the organism’s genotype, geneticists can Dominant phenotype, Recessive phenotype,
perform a testcross. unknown genotype: known genotype:
TECHNIQUE In a testcross, the individual with the
PP or Pp? pp
unknown genotype is crossed with a homozygous
individual expressing the recessive trait (white flowers
in this example). By observing the phenotypes of the If PP, If Pp,
offspring resulting from this then all offspring then ⁄2 offspring purple
1

cross, we can deduce the genotype of the purple- purple: and 1⁄2 offspring white:
flowered parent.
p p p p
RESULTS
P P
Pp Pp Pp Pp
P p
Pp Pp pp pp

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 The Law of Independent Assortment
• Mendel derived the law of segregation by following a single trait

• The F1 offspring produced in this cross were monohybrids, heterozygous for one character

• Mendel identified his second law of inheritance by following two characters at the same time

• Crossing two, true-breeding parents differing in two characters produces dihybrids in the F 1
generation, heterozygous for both characters

• How are two characters transmitted from parents to offspring?

– As a package?

– Independently?

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 • A dihybrid cross

– Illustrates the inheritance of two characters

• Produces four phenotypes in the F2 generation

EXPERIMENT Two true-breeding pea plants— P Generation YYRR yyrr
one with yellow-round seeds and the other with
green-wrinkled seeds—were crossed, producing Gametes YR  yr
dihybrid F1 plants. Self-pollination of the F 1 dihybrids,
which are heterozygous for both characters, F1 Generation Hypothesis of YyRr Hypothesis of
produced the F2 generation. The two hypotheses dependent independent
assortment assortment
predict different phenotypic ratios. Note that yellow Sperm
color (Y) and round shape (R) are dominant. Sperm
1
⁄4 YR 1
⁄4 Yr 1
⁄4 yR 1
⁄4 yr
Eggs
RESULTS 1
⁄2 YR 1
⁄2 yr
1
⁄4 YR
Eggs YYRR YYRr YyRR YyRr
F2 Generation1 ⁄2 YR
YYRR YyRr 1
⁄4 Yr
(predicted YYrr YYrr YyRr Yyrr
offspring) 1
⁄2 yr
CONCLUSION The results support the hypothesis of YyRr yyrr 1
⁄4 yR
independent assortment. The alleles for seed color and seed YyRR YyRr yyRR yyRr
3
⁄4 1
⁄4
shape sort into gametes independently of each other. 1
⁄4 yr
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr
9
⁄16 3
⁄16 3
⁄16 1
⁄16
Phenotypic ratio 9:3:3:1

Figure 14.8 315 108 101 32 Phenotypic ratio approximately 9:3:3:1

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 • Using the information from a dihybrid cross, Mendel developed

The law of independent assortment which is:

– Each pair of alleles segregates independently during gamete

formation

• The laws of probability govern Mendelian inheritance

• Mendel’s laws of segregation and independent assortment r eflect

the rules of probability

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 The Multiplication and Addition Rules Applied to
Monohybrid Crosses
• The multiplication rule Rr Rr


– States that the probability that two or Segregation of Segregation of
alleles into eggs alleles into sperm
more independent events will occur
together is the product of their individual Sperm

probabilities ⁄2
1
R ⁄2
1
r

• Probability in a monohybrid cross can be

R R
determined using this rule 1
⁄2 R R r

• The rule of addition ⁄4

1 ⁄4
1
Eggs
– States that the probability that any one of r r
1
⁄2 r R r
two or more exclusive events will occur is 1
⁄4 1
⁄4
calculated by adding together their
individual probabilities
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 Extending Mendelian Genetics for a Single Gene
• The inheritance of characters by a single gene

– May deviate from simple Mendelian patterns

The Spectrum of Dominance

• Complete dominance occurs when the phenotypes of the heterozygote and
dominant homozygote are identical
• Codominance
Two dominant alleles affect the phenotype in separate, distinguishable ways
The human blood group MN Is an example of codominance

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 P Generation White
Red
CRCR
 CWCW
• Incomplete
Gametes CR CW
dominance
Pink
– The phenotype of F1 F1 Generation CRCW

hybrids is somewhere 1
⁄2 1
⁄2
Gametes C
R CW
between the
phenotypes of the two Eggs
1
⁄2 CR 1⁄2 CW Sperm
F2 Generation
parental varieties 1
⁄2 CR
CR CR CR CW
1
⁄2 Cw
– 1:2:1 g&p f1 CR CW CW CW

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 • The Relation Between Dominance and Phenotype

• Dominant and recessive alleles

– Do not really “interact”

– Lead to synthesis of different proteins that produce a phenotype

• Frequency of Dominant Alleles: Dominant alleles are not necessarily more

common in populations than recessive alleles

• Multiple alleles: Most genes exist in populations In more than two allelic forms

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 • The ABO blood group in
humans
– Is determined by
multiple alleles

Table 14.2

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 Epistasis
BbCc  BbCc

• In pleiotropy a gene has multiple

Sperm
phenotypic effects ⁄4 BC
1 1
⁄4 bC ⁄4 Bc
1
⁄4 bc
1

Eggs
1
⁄4 BC BBCC BbCC BBCc BbCc
• Some traits may be determined
by two or more genes ⁄4 bC
1
BbCC bbCC BbCc bbCc

1
⁄4 Bc BBCc BbCc BBcc Bbcc
• In epistasis A gene at one locus
alters the phenotypic expression 1
⁄4 bc BbCc bbCc Bbcc bbcc

of a gene at a second locus

⁄16
9
⁄16
3 ⁄16
4

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 Polygenic Inheritance
• Many human characters 
AaBbCc AaBbCc

Vary in the population along a continuum and are

called quantitative characters
aabbcc Aabbcc AaBbcc AaBbCc AABbCc AABBCc AABBCC

20
⁄64
Human skin and eye colour; height, weight in
people; and kernel colour of wheat

Fraction of progeny
15
⁄64

• Quantitative variation usually indicates polygenic

inheritance

–An additive effect of two or more genes on a

6
⁄64

single phenotype

1
⁄64

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 • The norm of reaction is the phenotypic range of a particular genotype
that is influenced by the environment

Figure 14.13

Multifactorial characters are those that are influenced by both genetic

and environmental factors

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 Integrating a Mendelian View of Heredity and Variation

• An organism’s phenotype
– Includes its physical appearance, internal anatomy, physiology, and behavior

– Reflects its overall genotype and unique environmental history

• Many human traits follow Mendelian patterns of inheritance

• Humans are not convenient subjects for genetic research

– However, the study of human genetics continues to advance

• Even in more complex inheritance patterns

– Mendel’s fundamental laws of segregation and independent assortment still
apply
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 Pedigree Analysis
• A pedigree
– Is a family tree that describes the interrelationships of parents and children across
generations
• Inheritance patterns of particular traits
– Can be traced and described usingFirst generation
pedigrees
Ww ww ww Ww (grandparents) Ff Ff ff Ff

Second generation
Ww ww ww Ww Ww ww (parents plus aunts FF or Ff Ff ff Ff Ff ff
and uncles)
Third
WW generation ff FF
ww
or (two sisters) or
Ww Ff

Widow’s peak No Widow’s peak Attached earlobe Free earlobe

(a) Dominant trait (widow’s peak) (b) Recessive trait (attached earlobe)
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 Recessively Inherited Disorders Examples
• Many genetic disorders Cystic Fibrosis
• Symptoms of cystic fibrosis include
– Are inherited in a recessive
– Mucus buildup in the some internal organs
manner
– Abnormal absorption of nutrients in the
• Recessively inherited small intestine
disorders Sickle-Cell Disease
• Sickle-cell disease
– Show up only in individuals
homozygous for the allele – Affects one out of 400 African-Americans
– Is caused by the substitution of a single amino
• Carriers acid in the hemoglobin protein in red blood cells
– Are heterozygous individuals • Symptoms include
who carry the recessive allele – Physical weakness, pain, organ damage, and
but are phenotypically normal even paralysis
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 Mating of Close Relatives
• Matings between relatives
– Can increase the probability of the appearance
of a genetic disease
– Are called consanguineous matings

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 Dominantly Inherited Disorders
• Some human disorders are due to dominant alleles

• Achondroplasia

– A form of dwarfism that is lethal when

homozygous for the dominant allele
• Huntington’s disease

– Is a degenerative disease of the nervous

system
– Has no obvious phenotypic effects until
about 35 to 40 years of age

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 Counseling Based on Mendelian Genetics and Probability Rules

• Using family histories

– Genetic counselors help couples determine the odds that their
children will have genetic disorders

Tests for Identifying Carriers

• For a growing number of diseases
– Tests are available that identify carriers and help define the
odds more accurately

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 Fetal Testing
• In amniocentesis
– The liquid that bathes the fetus is removed and tested
• In chorionic villus sampling (CVS)
– A sample of the placenta is removed and tested

Newborn Screening
• Some genetic disorders can be detected at birth by
simple tests that are now routinely performed in most
hospitals
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