Chromosomes, Mapping

and the Meiosis-

Inheritance Connection
Chapter 13
 X-Linked Genes

Drosophila melanogaster

• T. H. Morgan crossed the mutant

male to a normal red-eyed female

- all F1 progeny red eyed =

dominant trait (R)

• Morgan crossed F1 females x F1

males

• F2 generation contained red and

white- eyed flies

- but all white-eyed flies were

male
 X-Linked Genes

• Testcross of a F1 female with a white-eyed male showed the

viability of white-eyed females

• Morgan concluded that the eye color gene resides on the X

chromosome
 What Determines the Sex of an Organism?

• Sex determination in
Drosophila is based on
the number of X
chromosomes

– 2 X chromosomes =
female; 1 X and 1 Y
chromosomes = male

• Sex determination in humans is based on the presence of a

Y chromosome

– 2 X chromosomes = female; having a Y chromosome (XY)

= male
 What is “Male” on the Y chromosome?

• In humans, the Y chromosome has the sex determining

region Y (SRY) gene
- encodes the testis determining factor (TDF) protein
- Swyer syndrome – not functional SRY gene
• Y chromosome is affected, X chromosome is normal

• male genotype (XY), female phenotype (no testes,

 What is “Male” on the X chromosome?

• In humans, males must produce androgens (e.g., testosterone)

and respond to them
• The X chromosome of males has a gene that encodes
androgen receptor
- Androgen insensitivity syndrome – androgen
receptor is mutated
• X chromosome is affected, Y chromosome is normal
• male genotype (XY), female phenotype (no testes)
 Sex-Linked Disorders
• Associated with sex chromosomes (X or Y)
- X-linked disorders show up in both genders but more
often in males because they only have one X
chromosome
• hemophilia (blood-clotting disorder) is caused by
an X-linked recessive allele
H= normal
h= hemophilia
XH Xh XH Y

XH Xh XH Y

XH Xh XH Y

X hY
Hemophilia in humans is an X-linked recessive trait.
What will be the results of mating between a normal
(non-carrier) female and a hemophiliac male?

A.half of daughters are normal

and half of sons are hemophilic

B. all daughters are carriers and

all sons are normal

C. half of sons are normal and

half are hemophiliac; all daughters are carriers

D.all daughters are normal and

all sons are carriers
In a cross between a homozygous, red-eyed
female fruit fly and a white-eyed male, what
percent of the male offspring will have white
eyes? White eyes are X-linked recessive.

A.100%

B.50%

C.75%

D.0 %

E.25%
 Do Women Really Need Two X Chromosomes?

Maternal Paternal
X chromosome X chromosome

• In females, cells don’t use both X chromosomes

• Dosage compensation = 1X chromosome is inactivated

• In each female cell, 1X chromosome is inactivated and is

highly condensed into a Barr body, while the other X
chromosome is decondensed
• Calico cats are
females with a patchy
distribution of dark,
orange, and white fur

• They are
heterozygous for
alleles of the fur
color gene on the X
chromosome

• The patchy
distribution and white
color is due to the
second gene that is
epistatic to the fur
color gene
Do we Always Inherit One Maternal Chromosome and One
Paternal Chromosome?
Nuclear DNA Mitochondrial DNA

                                                                                                                                                                               

• Both men and women inherit mitochondrial DNA only from their mothers
Problems with the X & Y Chromosomes
• Nondisjunction is a failure
of homologous chromosomes
or sister chromatids to
separate properly during
meiosis I or II

• Aneuploid gametes have one

less or one extra
chromosome

- monosomy = one
chromosome is absent

- trisomy = extra
chromosome is present
 Nondisjunction of Sex Chromosomes

• XX + Y = XXY – male (Klinefelter syndrome) with

breast enlargement and undeveloped testes

• O + X = XO – female (Turner syndrome) with no

breast growth and infertile

• YY + X = XYY – male

• XX + X = XXX – female
Problems with Autosomal Chromosomes

• Edwards syndrome =
trisomy 18

- die within a few

months

• Down syndrome =
trisomy 21

- can survive to
adulthood

- mother’s age
influences risk
 How are Genetic Disorders Tested?

• Amniocentesis collects fetal cells from the amniotic fluid

(fluid that surrounds the fetus) for examination

- performed between 14-20 weeks of pregnancy

Amniotic fluid

Fetus
 How are Genetic Disorders Tested?

• Chorionic villus sampling is another procedure that

obtains fetal cells from chorionic villi (finger-shaped
growths found in the placenta) for karyotyping

- performed between 8-12 weeks of pregnancy

If Two Alleles are on the Same Chromosome, They can be
Inherited Together
Maternal Paternal
chromosome #10 chromosome #10

Gene X determines hair color

A = dominant allele
a = recessive allele

Gene Y determines eye color

B = dominant allele
b = recessive allele

Gametes with the parental combination =

of alleles gametes
 …But Not Always

• If crossing over occurs, not only parental but

also recombinant gametes would be produced

Gametes with new combination of alleles =

gametes
Using Recombination to Measure Distance Between
Genes…

Gene X for body color

Gene Y for wing size

Using Recombination to Measure Distance Between Genes…

415+92+88+405=1000
92+88=180
recombination = recombinant progeny X 100%
frequency total progeny

• 1% recombination = 1 map unit (m.u.) = 1 centimorgan (cM)

 Which Genes are Closer to Each Other?

Paternal sister Gene I Gene II Gene III

chromatid

#1 #2

Maternal sister
chromatid