Lecture 7

CHROMOSOMAL BASIS OF
INHERITANCE

Outline

Chromosome theory of inheritance

Discovery of sex-linked genes
Chromosomal basis of sex
Sex-linked inheritance in humans
Inactivation of X chromosomes
Inheritance of linked genes
Alteration of chromosome number
and structure

Mendelian Inheritance
Review

Chromosomes (and genes) are present

in diploid cells
Homologous chromosomes separate
during meiosis
Allelles segregate during meiosis
Fertilization restores 2n condition for
chromosomes and genes

Chromosome Theory of Inheritance

Mendelian genes have specific loci (positions)
along chromosomes and it is the chromosomes
that undergo segregation and independent
assortment

2 genes:
Behavior of
homologous
chromosomes during
meiosis

Y = yellow
y = green
R = round
r = wrinkled

Morgans Experimental Evidence

First experimental evidence showing an association between
genes and chromosomes came from experiments done by Dr.
Thomas Morgan
Fruit fly: Drosophila melongaster:
Ideal study animal:
Fast breeder, large number off offspring, large sample size
4 pairs of chromosomes; females = XX, males = XY
Morgan was looking for variation:
Eye color: red = wild type, white = mutant phenotype

All flies have red eyes:

Conclusion: red eye color dominant to
white eye color
Female flies have red eyes, male flies
have white eyes
Conclusion: if only males show white
eyes, then eye color gene must be
located on X chromosome

Sex-linked Inheritance
The fruit fly Drosophila melanogaster

1 mm

Eye color is a variable trait.

A trait
determined by
genes on the
sex
chromosomes
is said to be
_________

Reciprocal Crosses Confirm That Eye Color in

Drosophila Is an X-Linked Trait
One half of reciprocal cross

Male

Male gametes

Female
gametes

Female

Females Males
w+ = red eyes, w = white eyes

Eye Color in Drosophila Is an X-Linked Trait

Male

Other half of reciprocal cross

Male gametes
Female
gametes

Female

Females Males

Terminology

X and Y: sex chromosomes

X-linked inheritance: a gene resides on the X chromosome
Y-linked inheritance: a gene resides on the Y chromosome
sex-linked inheritance: a gene is on either sex chromosome
autosomes: non sex chromosomes
autosomal inheritance: shown by genes on non-sex
chromosomes

Chromosomal Basis of Sex

The X and Y chromosomes are sex
chromosomesthey determine the sex
of offspring
(XX = female; XY = male)
X and Y chromosomes are different in
size and shape, but act like ________
during meiosis

Chromosomal Basis of Sex

- each egg contains one X chromosome
- half the sperm contain an X
chromosome and half contain the Y
chromosome
Sex determination is a 50-50 chance

form gametes

Various chromosomal
systems of sex
determination

Inheritance of X-linked Genes

(color-blindness)

Red-green color blindness is a sex-linked trait in

humans

Figure 10.26
Figure 10.26

Hemophilia: A Sex-Linked Trait

Hemophilia proteins
required for blood clotting
are absent
blood clots slowly or not
at all
Two genes that encode
blood-clotting proteins are
on the X chromosome
X-linked

- Queen Victoria mutant

allele
- 3/9 children received
defective allele
- Allele transferred by
marriage to other royal
families

In all, 10 of Victorias male descendants had hemophilia

Escaped the disorder

Patterns in X-linked Recessive

Phenotypes
One copy of allele is needed for expression in males,
___________ In females
Daughters who receive one mutant X chromosome
are ___________
Male with mutation passes it to his daughters; sons
get _______chromosome

X Inactivation in Female Mammals

XX = females, XY = males
In females, one X is inactivated, thus
females and males now have one
copy of X-linked genes
- the inactive X condenses to form a
Barr body
Which X forms the Barr body occurs
randomly and independently in
embryonic cells

X Inactivation in Female Mammals

In ovaries, Barr-body chromosomes

are re-activated in the cells that give
rise to eggs, resulting in every female
gamete having an active X

How Linkage Affects Inheritance

Morgan looked at fruit flies of 2 different
phenotypes:
Wild-type flies: grey body, normal wings
Mutant flies: black bodies, vestigial wings
Mutant alleles are recessive to wild-type and
are not sex-linked

How Linkage Affects Inheritance

Most offspring had a

parental phenotype
suggesting the body
color and wing size
are linked on the
same chromosome
and are thus inherited
together

Linked Genes: Crossing Over

Alteration of Chromosome Number or

Structure Cause Genetic Disorders

Abnormal Chromosome Number

Aneuploidy: an abnormal number of chromosomes
Monosomic: a missing chromosome;
Trisomic: an extra chromosome;
Polyploidy: more than 2n chromosomes in all somatic
cells; fairly common in plants

Nondisjunction:
Abnormal
Chromosome
Number

Down Syndrome

Most cases of trisomy 21 result from nondisjunction during meiosis 1

10

Nondisjunction of
the X chromosome

1/1000

1/2500

1/1000

Alteration of Chromosome Structure

Deletions and duplications are
likely to occur during meiosis
eg. in crossing over, one can have
an exchange of unequal-sized
segments of DNA
Translocations and inversions can
alter phenotype because gene
expression can be affected by the
location of neighboring genes

Disorders Caused by Structurally

Altered Chromosomes
Some are
implicated in
cancers

Cri du chat: deletion in chromosome 5

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