Sex Determinan
Sex Determinan
Sex Determinan
Sex Determination
Sex Linkage
The phenotypic expression of an allele related to the
chromosomal sex of the individual
Sex Determination
A biological system that determines the development of a sexual
characteristics in an organism
Eukaryotic Chromosomes
Eukaryotes have multiple linear chromosomes in a number
characteristic of the species. Most have two versions of
each chromosome, and so are diploid (2N).
Diploid cells are produced by haploid (N) gametes that
fuse to form a zygote. The zygote then undergoes
development, forming a new individual.
Examples of diploid organisms are humans (23 pairs)
and Drosophila melanogaster (4 pairs).
The yeast Saccharomyces cerevisiae is haploid (16
chromosomes).
Eukaryotic Chromosomes
Chromosome pairs in diploid
organisms are homologous
chromosomes. One member
of each pair (homolog) is
inherited from each parent.
Chromosomes that have
different genes and do not
pair are nonhomologous
chromosomes
Eukaryotic Chromosomes
Animals and some plants have male and female cells with
distinct chromosome sets, due to sex chromosomes. One
sex has a matched pair (e.g., human females with XX) and
the other has an unmatched pair (human male with XY).
Autosomes are chromosomes other than sex
chromosomes.
Sex Chromosomes:
A chromosome that men and women have different amounts of.
(X and Y in humans.)
Autosomal Chromosomes:
All the other chromosomes BESIDES the sex chromosomes.
Chromosome Theory of Inheritance
1. By the beginning of the 20th century, cytologists had
observed that chromosome number is constant in
all cells of a species, but varies widely between
species.
2. Sutton and Boveri (1902) independently realized the
parallel between Mendelian inheritance and
chromosome transmission, and proposed the
chromosome theory of inheritance, which states
that Mendelian factors (genes) are located on
chromosomes.
Sex Chromosomes
1. Behavior of sex chromosomes offers support for the
chromosomal theory. In many animals sex chromosome
composition relates to sex, while autosomes are constant.
2. Independent work of McClung, Stevens, and Wilson
indicated that chromosomes are different in male and
female insects.
a. Stevens named the extra chromosome found in females “X.”
b. In grasshoppers, all eggs have an X, and half of the sperm produced have
an X, and the other half do not. After fertilization, an unpaired X produces a
male, while paired X chromosomes produce a female.
3. Other insects have a partner for the X chromosome.
Stevens named it “Y.” In mealworms, for example, XX
individuals are female, and XY are male.
Sex Chromosomes
4. In both humans and fruit flies (Drosophila melanogaster)
females have two X chromosomes, while males have X and
Y.
a. Males produce two kinds of gametes with respect to sex chromosomes (X
or Y), and are called the heterogametic sex.
b. Females produce gametes with only one kind of sex chromosome (X) and
are called the homogametic sex.
c. In some species the situation is reversed, with heterogametic females and
homogametic males.
5. Random fusion of gametes produces an F1 that is 1⁄2 female
(XX) and 1⁄2 male (XY).
Sex Chromosomes
X chromosome
Colourblindness Y chromosome
Hemophilia
Peter J. Russell, iGenetics: Copyright © Pearson Education, Inc., publishing as Benjamin Cummings.
Sex Linkage
e. Morgan’s hypothesis was that this eye color gene is located on the X
chromosome. If so,
i. Males are hemizygous, because there is no homologous gene on the Y. The original
mutant male’s genotype was w/Y (hemizygous with the recessive allele).
ii. Females may be homozygous or heterozygous. The wild-type female in the original
cross was w+/w+ (homozygous for red eyes).
iii. The F1 flies were w+/w (females) and w+/Y (males) (females all heterozygous, males
hemizygous dominant).
iv. The F2 data complete a crisscross inheritance pattern, with transmission from the
mutant fly through his daughter (who is heterozygous) to his grandson. The F2 were:
w+ Y
w+ w +/ w + w +/ Y
Red-eyed females Red-eyed males
w w +/ w w/ Y
Red-eyed females White-eyed males
Sex Linkage
v. Morgan’s hypothesis was confirmed by an experiment reciprocal to the
original cross. A white-eyed female (w/w) was crossed with a wild-
type male (w+/Y). Results of the reciprocal cross:
(1) All F1 females had red eyes (w+/w).
(2) All F1 males had white eyes (w/Y).
vi. These F1 results are different from those in the original cross, where
all the F1 had red eyes. When the F1 from the reciprocal cross interbred,
the F2 were:
w Y
w+ w+/ w w+/ Y
Red-eyed females Red-eyed males
w w/ w w/ Y
White-eyed females White-eyed males
Reciprocal cross : Homozygous
white-eyed female red-eyed
(wild-type) male
Reciprocal cross : The F1 flies are
interbred to produce the F2s
Sex Linkage
2.Morgan’s discovery of X-linked inheritance showed that
when results of reciprocal crosses are different, and
ratios differ between progeny of different sexes, the
gene involved is likely to be X-linked (sex-linked).
3. This was strong evidence that genes are located on
chromosomes. Morgan received the 1933 Nobel Prize
for Physiology or Medicine for this work.
Sex-Linked Characteristics
• X-linked characteristics
• Z-linked characteristics
• Y-linked characteristics
X-Linked White Eyes in
Drosophila
• Appearance of rare phenotypes was associated with the
inheritance of particular chromosomes
• Sex-linked genes are located on the X chromosome
• The wild-type eye color of Drosophila is dull red, but pure
lines with white eyes are available.
• Allele for white is recessive
• White-eyed females would possess two X chromosomes
and one Y and that red-eyed males would possess a single
X chromosome
X-Linked Color Blindness in
Humans
• Human eye detects only three colors—red, green
and blue
• Affected woman passes the X-linked recessive trait
to her sons but not to her daughters
• Affected man passes the trait to his grandsons
through his daughters but never to his sons
• Pattern of inheritance exhibited by X-linked
recessive characteristics is sometimes called
crisscross inheritance
Colourblindness
Result from a defect in one of three genes found on X
chromosome
Red–green color blindness is inherited as an X-linked recessive
trait in humans
Possible
Inheritance of
Colorblindness
Allele
Carrier
an individual that has two alleles, one damaged one and
one regular
Z-Linked Characteristics
XB Xb
50% girl with dominant phenotype
XB XB XB XB Xb 25% boy with dominant phenotype
Peter J. Russell, iGenetics: Copyright © Pearson Education, Inc., publishing as Benjamin Cummings.
X-Linked Dominant Inheritance
1. Only a few X-linked dominants are known.
2. Examples include:
a. Hereditary enamel hypoplasia (faulty and discolored tooth
enamel)
b. Webbing to the tips of toes.
c. Constitutional thrombopathy (severe bleeding due to lack
of blood platelets).
3. Patterns of inheritance are the same as X-linked
recessives, except that heterozygous females
show the trait (although often in a milder form).
Pedigree showing the transmission of the
X-linked dominant trait of faulty tooth
enamel
Peter J. Russell, iGenetics: Copyright © Pearson Education, Inc., publishing as Benjamin Cummings.
Y linked inheritance
(Holandric traits)
• There are far fewer Y-linked than X-linked
genetic disorders
• This is not surprising given that the Y
chromosome is smaller and has many less
genes than the X chromosome.
• Y-linked inheritance shows a pattern of
transmission of the mutant phenotype from
father to son, and it is never observed in
females.
• An example of a Y linked phenotypic trait is
hairy ears.
Sex limited inheritance
• all the children of two persons with the condition must also show the condition
• the trait may disappear from a branch of the pedigree, but reappear in later generations
• over a large number of pedigrees, there are approximately equal numbers of affected
females and males.
Examples include:
Albinism
Cystic fibrosis
Thalassaemia
Tay-Sachs disease
Phenylketonuria
Red hair colour
X linked Dominant Pattern
• An idealised pattern of inheritance of an X-linked dominant trait includes the
following features:
• a male with the trait passes it on to all his daughters and none of his sons
• a female with the trait may pass it on to both her daughters and her sons
• every affected person has at least one parent with the trait
• if the trait disappears from a branch of the pedigree, it does not reappear
• over a large number of pedigrees, there are more affected females than males
Examples include:
Vitamin D resistant rickets
Incontinentia pigmenti, a
rare disorder that results in
the death of affected
males before birth
X linked Recessive Pattern
• An idealised pattern of inheritance of an X-linked recessive trait includes the following
features:
• all the sons of a female with the trait are affected
• all the daughters of a male with the trait will be carriers of the trait and will not show the trait; the trait
can appear in their sons
• none of the sons of a male with the trait and an unaffected female will show the trait, unless the
mother is a carrier
• all children of two individuals with the trait will also show the trait
Examples include:
Ichthyosis, an inherited skin disorder
One form of red–green colour-blindness
One form of severe combined
immunodeficiency disease
Haemophilia
Fragile X syndrome
Duchenne muscular dystrophy