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Chapter Four: Sex Determination and Sex-Linked Characteristics
COMPREHENSION QUESTIONS
Section 4.1
1.
What is considered to be the fundamental difference between males and females of most organisms?
Solution:
Males produce relatively small gametes; females produce larger gametes.
2.
How do monoecious organisms differ from dioecious organisms?
Solution:
In monoecious organisms, individuals possess both male and female reproductive structures and produce both male and female gametes. Dioecious organisms exist as organisms of two distinct sexes, one producing male gametes, the other producing female
gametes.
3.
Describe the XX-XO system of sex determination. In this system, which is the heterogametic sex and which is the homogametic sex?
Solution:
In the XX-XO sex determination system, females have two copies of the sex-determining
chromosome (the X chromosome) and are the homogametic sex, whereas males have only one copy and are the heterogametic sex. Males are heterogametic because they produce two different types of gametes with respect to the sex chromosome: either containing an X or not containing an X.
*4.
How does sex determination in the XX-XY system differ from sex determination in the ZZ-ZW system?
Solution:
In the XX-XY system, males are heterogametic and produce gametes with either an X chromosome or a Y chromosome. In the ZZ-ZW system, females are heterogametic and produce gametes with either a Z or a W chromosome.
5.
What is the pseudoautosomal region? How does the inheritance of traits encoded by genes in this region differ from the inheritance of other Y-linked characteristics?
Solution:
The pseudoautosomal region is a region of homology between the X and Y chromosomes
that is responsible for pairing the X and Y chromosomes during meiotic prophase I. Genes in this region are present in two copies in both males and females and thus are
inherited like autosomal genes, whereas other Y-linked genes are passed on only from father to son.
6.
What is meant by genic sex determination?
Solution:
In organisms that follow this system, there is no cytogenetically recognizable difference in the chromosomes of males and females. Instead of a sex chromosome that differs between males and females, alleles at one or more loci determine the sex of the individual.
7.
How does sex determination in Drosophila
differ from sex determination in humans?
Solution:
In humans, the presence of a functional Y chromosome determines maleness. People with
XXY and XXXY are phenotypically male. In Drosophila
, the ratio of X chromosome material to autosomes (the X:A ratio) predicts the sex of the individual, regardless of the Y chromosome. However, sex in Drosophila
is actually determined by genes on the X chromosome. Flies with XXY and two haploid sets of autosomes are female, and flies with XO and two haploid sets of autosomes are sterile males.
8.
Give the typical sex chromosome complement found in the cells of people with Turner syndrome, with Klinefelter syndrome, and with androgen-insensitivity syndrome. What is
the sex-chromosome complement of triple-X females?
Solution:
Turner syndrome: XO Klinefelter syndrome: XXY (rarely XXXY, XXXXY, or XXYY)
Androgen insensitivity: XY Triple-X females: XXX Section 4.2
9.
What characteristics are exhibited by an X-linked trait?
Solution:
Males show the phenotypes of all X-linked traits, regardless of whether the X-linked allele is recessive or dominant. Males inherit X-linked traits from their mothers, pass X-
linked traits to their daughters, and through their daughters to their daughters’ descendants, but not to their sons or their sons’ descendants. 10.
Explain how Bridges’s study of nondisjunction in Drosophila
helped prove the chromosome theory of inheritance.
Solution:
Bridges showed that in crosses with white-eyed flies, where white eye color is a sex-
linked trait, exceptional progeny had abnormal inheritance of sex chromosomes. In matings of white-eyed females with red-eyed males, most of the progeny followed the expected pattern of white-eyed males and red-eyed females. Exceptional red-eyed male progeny were XO, and exceptional white-eyed females were XXY. These karyotypes were exactly as Bridges predicted with his hypothesis that the exceptional red-eyed males
inherited their X chromosome with the red-eye allele from their red-eyed fathers and were male because they did not inherit an X chromosome from their mothers, resulting in
an XO condition that is phenotypically male but sterile. Moreover, the exceptional white-
eyed females inherited two X chromosomes from their white-eyed mothers, as a result of nondisjunction in meiosis I of the female, and none from their red-eyed fathers, receiving instead a Y chromosome to make them XXY females. Calvin Bridges linked exceptional inheritance of a sex-linked trait to exceptional inheritance of the X chromosome: The linked exceptions proved the rule that genes reside on chromosomes.
11.
What characteristics are exhibited by a Y-linked trait?
Solution:
Y-linked traits appear only in males and are always transmitted from fathers to all sons, thus following a strict paternal lineage. Autosomal male-limited traits also appear only in males, but they can be transmitted to boys through their mothers. Section 4.3
12.
Explain why tortoiseshell cats are almost always female and why they have a patchy distribution of orange and black fur.
Solution:
Tortoiseshell cats have two different alleles of an X-linked gene: X
+
(non-orange, or black) and X
o
(orange). The patchy distribution results from X-inactivation during early embryo development. Each cell of the early embryo randomly inactivates one of the two X chromosomes, and the inactivation is maintained in all of the daughter cells. So each patch of black fur arises from a single embryonic cell that inactivated the X
o
, and each patch of orange fur arises from an embryonic cell that inactivated the X
+
. Normal male cats have only one X chromosome, so they cannot have patches of black and orange fur.
13.
What is a Barr body? How is it related to the Lyon hypothesis?
Solution:
Barr bodies are darkly staining bodies in the nuclei of female mammalian cells. Mary Lyon correctly hypothesized that Barr bodies are inactivated (condensed) X chromosomes. By inactivating all X chromosomes beyond one, female cells achieve dosage compensation for X-linked genes.
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APPLICATION QUESTIONS AND PROBLEMS Introduction
14.
As discussed in the introduction to this chapter, sex in bearded dragons is determined by both sex chromosomes and temperature. What, if any, would be the effect of unusually cool temperatures during the breeding season on the sex ratio of bearded lizards? What would be the effect of unusually warm temperatures on the sex ratio?
Solution:
At unusually cool temperatures, there would probably be a 50:50 sex ratio, because at cool temperatures, all ZZ individuals develop as males and all ZW individuals develop as
females. At warmer temperatures, some ZZ individuals develop as female, which would probably increase the proportion of females in the population.
Section 4.1
*15.What is the sexual phenotype of fruit flies having the following chromosomes?
Solution:
In fruit flies, the X to autosome ratio predicts the sexual phenotype. Flies with an X:A ratio of 0.5 are male and flies with an X:A ratio of 1.0 are female. Flies with an X:A ratio
greater than 1.0 are metafemales and flies with an X:A ratio of less than 0.5 are metamales. Flies with an X:A ratio between 0.5 and 1.0 are intersex.
Sex
Autosomal
chromosomes
chromosomes
Sexual phenotype
a.
XX
All normal
Female (X:A = 1.0)
b.
XY
All normal
Male (X:A = 0.5)
c.
XO
All normal
Male (X:A = 0.5)
d.
XXY
All normal
Female (X:A = 1.0)
e.
XYY
All normal
Male (X:A = 0.5)
f. XXYY
All normal
Female (X:A = 1.0)
g.
XXX
All normal
Metafemale (X:A = 1.5)
h.
XX
Four haploid sets
Male (X:A = 0.5)
i.
XXX
Four haploid sets
Intersex (X:A = 0.75)
j.
XXX
Three haploid sets
Female (X:A = 1.0)
k.
X
Three haploid sets
Metamale (X:A = 0.33)
l.
XY
Three haploid sets
Metamale (X:A = 0.33)
m.
XX
Three haploid sets
Intersex (X:A = 0.66)
16. If nondisjunction of the sex chromosomes takes place in meiosis I in the male in Figure 4.5
, what sexual phenotypes and proportions of offspring will be produced?
Solution:
Nondisjunction in the male will produce ½ sperm with XY and ½ sperm with O (no sex chromosomes). Normal separation of the sex chromosomes in the female will produce all eggs with a single X chromosome. These gametes will combine to produce ½ XXY (Klinefelter syndrome males) and ½ XO (Turner syndrome females). *17. For each of the following chromosome complements, what is the phenotypic sex of a person who has:
a.
XY with the SRY
gene deleted?
Recall that in humans a single functional copy of the SRY gene, normally located on the Y chromosome, determines phenotypic maleness by causing gonads to differentiate into testes. In the absence of a functional SRY
gene, gonads differentiate into ovaries and the individual is phenotypically female.
Solution:
Female
b.
XX with a copy of SRY
gene on an autosomal chromosome?
Solution:
Male
c.
XO with a copy of SRY
gene on an autosomal chromosome?
Solution:
Male
d.
XXY with the SRY
gene deleted?
Solution:
Female
e.
XXYY with one copy of the SRY
gene deleted
Solution: Male (Klinefelter syndrome)
18.
A normal female Drosophila
produces abnormal eggs that contain all (a complete diploid
set) of her chromosomes. She mates with a normal male Drosophila
that produces normal
sperm. What will the sex of the progeny from this cross be?
Solution:
In this cross, all the eggs will have two X chromosomes and two sets of autosomes. These eggs will be fertilized by two kinds of sperm produced in equal proportions: Half the sperm will have one X chromosome and one set of autosomes, and the other half will have one Y chromosome and one set of autosomes. Thus, half the progeny will have three
X chromosomes and three sets of autosomes and will be female, as predicted by their X:A
ratio of 1. The other half will have two X chromosomes and three sets of autosomes with an X:A of 2/3, and will be intersex. 19.
In certain salamanders, the sex of a genetic female can be altered, making her into a functional male; these salamanders are called sex-reversed males. When a sex-reversed male is mated with a normal female, approximately ⅔ of the offspring are female and ⅓ are male. How is sex determined in these salamanders? Explain the results of this cross.
Solution:
The 2:1 ratio of females to males is explained if females are normally ZW and males are ZZ. Sex-reversed males would be ZW and a cross between a sex-reversed male (ZW) and
a female (ZW) would produce ¼ ZZ, ½ ZW, and ¼ WW. The WW offspring would not survive, as the W chromosome—like the Y chromosome—carries little genetic information. Thus, the progeny ratio would become 2/3 ZW (female) and 1/3 ZZ (male). 20.
In some mites, males pass genes to their grandsons, but they never pass genes to their sons. Explain.
Solution:
A system in which males are haploid and females are diploid would explain these results. Haploid males develop from unfertilized eggs and thus only have a female parent. Females are diploid and have both male and female parents. Males thus pass genes only to female progeny. The female progeny can then generate haploid male grandsons that contain the grandfather’s genes.
*21.In organisms with the ZZ-ZW sex-determining system, from which of the following possibilities can a female inherit her Z chromosome?
Solution:
Yes
No
Her mother’s mother
X
Her mother’s father
X
Her father’s mother
X
Her father’s father
X
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Females inherit the W chromosome from the mother and the Z chromosome from the father. Thus, no Z chromosome can be inherited from the mother’s parents. Males inherit one copy of the Z chromosome from each parent, so females have equal probability of inheriting the Z chromosome from the father’s mother or the father’s father.
Section 4.2
*22. When Bridges crossed white-eyed females with red-eyed males, he obtained a few red-
eyed males and white-eyed females (see Figure 4.13
). What types of offspring would be produced if these red-eyed males and white-eyed females were crossed with each other?
Solution:
Bridges’ exceptional white-eyed females were X
w
X
w
Y and the red-eyed males were X
+
Y. Meiosis in the white-eyed females generates 45% X
w
Y, 45% X
w
, 5% X
w
X
w
, and 5% Y gametes. Meiosis in the red-eyed male generates 50% X
+
and 50% Y gametes. When these two flies are crossed, the following progeny are produced.
X
+
Y
X
w
Y
X
w
X
+
Y red-eyed females
X
w
YY white-eyed males
X
w
X
w
X
+
red-eyed females
X
w
Y white-eyed males
X
w
X
w
X
w
X
w
X
+
metafemales
X
w
X
w
Y white-eyed females
Y
X
+
Y red-eyed males
YY dies
diez
*23.Joe has classic hemophilia, an X-linked recessive disease. Could Joe have inherited the gene for this disease from the following persons?
Solution:
Yes
No
a. His mother’s mother
X
b. His mother’s father
X
c. His father’s mother
X
d. His father’s father
X
Males always inherit their X chromosome from their mother (they inherit the Y chromosome from their father), and thus, X-linked traits are passed on from mother to son. Females inherit an X chromosome from both their mother and father, so X-linked traits can be passed from mother or father to females. Joe must have inherited the hemophilia trait from his mother. His mother could have inherited the trait from either her
mother (a) or her father, because both contribute an X chromosome to their daughters (b).
Joe could not have inherited the trait from his father (Joe inherited the Y chromosome
from his father); thus, he could not have inherited hemophilia from either his father’s mother (c) or his father’s father (d).
*24.In Drosophila,
yellow body is due to an X-linked gene that is recessive to the gene for gray body. a. A homozygous gray female is crossed with a yellow male. The F
1
are intercrossed to produce F
2
. Give the genotypes and phenotypes, along with the expected proportions, of the F
1
and F
2
progeny. Solution:
We will use X
+
as the symbol for the dominant gray body color and X
y
for the recessive yellow body color. The homozygous gray female parent is thus X
+
X
+
and the yellow male parent is X
y
Y. Male progeny always inherit the Y chromosome from the male parent and either of the
two X chromosomes from the female parent. Female progeny always inherit the X chromosome from the male parent and either of the two X chromosomes from the female parent. F
1
males inherit the Y chromosome from their father and X
+
from their mother; hence, their genotype is X
+
Y and they have gray bodies.
F
1
females inherit X
y
from their father and X
+
from their mother; hence, they are X
+
X
y
and also have gray bodies. When the F
1
progeny are intercrossed, the F
2
males again inherit the Y from the F
1
male, and they inherit either X
+
or X
y
from their mother. Therefore, we should get ½ X
+
Y (gray body) and ½ X
y
Y (yellow body). The F
2
females will all inherit the X
+
from their father and either X
+
or X
y
from their mother. Therefore, we should get ½ X
+
X
+
and ½ X
+
X
y
(all gray body).
In summary:
P
X
+
X
+
(gray female) × X
y
Y (yellow male)
F
1
½ X
+
Y (gray males)
½ X
+
X
y
(gray females)
F
2
¼ X
+
Y (gray males)
¼ X
y
Y (yellow males)
¼ X
+
X
y
(gray females)
¼ X
+
X
+
(gray females)
The net F
2
phenotypic ratios are ½ gray females, ¼ gray males, and ¼ yellow males.
The F
2
progeny can also be predicted using a Punnett square.
X
+
Y
X
+
X
+
X
+
gray females
X
+
Y gray males
X
y
X
+
X
y
gray females
X
y
Y yellow males
b.
A yellow female is crossed with a gray male. The F
1
are intercrossed to produce the F
2
. Give the genotypes and phenotypes, along with the expected proportions, of the F
1
and F
2
progeny.
Solution:
The yellow female must be homozygous X
y
X
y
because yellow is recessive, and the gray male, having only one X chromosome, must be X
+
Y. The F
1
male progeny are all X
y
Y (yellow) and the F
1
females are all X
+
X
y
(heterozygous gray). P
X
y
X
y
(yellow female) × X
+
Y (gray male)
F
1
½ X
y
Y (yellow males)
½ X
+
X
y
(gray females)
F
2
¼ X
+
Y (gray males)
¼ X
y
Y (yellow males)
¼ X
+
X
y
(gray females)
¼ X
y
X
y
(yellow females)
c. A yellow female is crossed with a gray male. The F
1
females are backcrossed with gray males. Give the genotypes and phenotypes, along with the expected proportions, of the F
2
progeny. Solution:
If the F
1
X
+
X
y
females are backcrossed to X
+
Y gray males, then:
F
2
¼ X
+
Y (gray males)
¼ X
y
Y (yellow males)
¼ X
+
X
+
(gray females)
¼ X
+
X
y
(gray females)
d.
If the F
2
flies in part b
mate randomly, what are the expected phenotypic proportions of flies in the F
3
?
Solution:
The outcome of F
2
flies from b
mating randomly should be equivalent to random union of the male and female gametes. We need to predict the overall male and female gamete types and their frequencies. As a result of meiosis, half of the male gametes will have the Y chromosome. Because there are equal numbers of males with either X
+
or X
y
, the X-bearing male gametes will be split equally: (½ with X
+
)(½ with X
+
) = ¼ X
+
; (½ with X
+
)(½ with X
y
) = ¼ X
y
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Male gametes: ½ Y, ¼ X
+
, ¼ X
y
Half the F
2
females in part (b) are homozygous X
y
X
y
, so all their gametes will be X
y
: ½ X
y
. The other half are heterozygous and will produce equal proportions of X
+
and X
y
gametes: ½(½X
+
) = ¼ X
+
; ½(½ X
y
) = ¼ X
y
. Female gametes: ¼ X
+
, ¾ X
y
Now using a Punnett square:
1/2 Y
1/4 X
+
1/4 X
y
1/4 X
+
1/8 X
+
Y
1/16 X
+
X
+
1/16 X
+
X
y
3/4 X
y
3/8 X
y
Y
3/16 X
+
X
y
3/16 X
y
X
y
Overall genotypic ratios are 1/8 X
+
Y, 3/8 X
y
Y, 1/16 X
+
X
+
, 4/16 X
+
X
y
, and 3/16 X
y
X
y
. Overall phenotypic ratios are 1/8 gray males, 3/8 yellow males, 5/16 gray females, and 3/16 yellow females.
25.
Coat color in cats is determined by genes at several different loci. At one locus on the X chromosome, one allele (X
+
) codes for black fur; another allele (X
o
) encodes orange fur. Females can be black (X
+
X
+
), orange (X
o
X
o
), or a mixture of orange and black called tortoiseshell (X
+
X
o
). Males are either black (X
+
Y) or orange (X
o
Y). Bill has a female tortoiseshell cat named Patches. One night, Patches escapes from Bill’s house, spends the night out, and mates with a stray male. Patches later gives birth to the following kittens: one orange male, one black male, two tortoiseshell females, and one orange female. Give the genotypes of Patches, her kittens, and the stray male with which Patches mated.
Solution:
Because Patches is tortoiseshell, she must be X
o
X
+
. The genotypes of the kittens are:
orange male: X
o
Y
black male: X
+
Y tortoiseshell females: X
+
X
o
orange female: X
o
X
o
Because the orange female has two orange alleles, the father must be carrying an X
o
chromosome and a Y chromosome. Thus, the male cat’s genotype must be X
o
Y.
*26.
Red-green color-blindness in humans is due to an X-linked recessive gene. Both John and
Cathy have normal color vision. After 10 years of marriage to John, Cathy gave birth to a color-blind daughter. John filed for divorce, claiming he is not the father of the child. Is John justified in his claim of nonpaternity? Explain why. If Cathy had given birth to a color-blind son, would John be justified in claiming nonpaternity?
Solution:
Red-green color-blindness is due to an X-linked allele (X
c
) that is recessive to the allele for color vision (X
+
). The color-blind daughter must be homozygous for the color-blind allele (X
c
X
c
); thus, she must have inherited a color-blind allele from each parent. She could have inherited a color-blind allele from her mother, as the mother (who had normal color vision) could have been heterozygous (X
+
X
c
). However, her father also had normal color vision, with genotype X
+
Y, and thus could not have passed on a color-blind allele. John would therefore be justified in being suspicious about the paternity of the child.
A few remote alternative possibilities could be considered. 1) The daughter is XO, inheriting a color-blind allele from her mother and no sex chromosome from her father. In
that case, the daughter could be X
c
O and have Turner syndrome. 2) John has Klinefelter syndrome (and is heterozygous for the color-blind allele (X
+
X
c
Y). In this way, he could have passed a color-blind allele to his daughter. However, most people with Klinefelter syndrome are sterile. 3) The daughter is heterozygous, but the X with the normal vision allele was inactivated in both eyes. 4) The daughter inherited a new X-linked color-blind mutation on the X chromosome she inherited from her father.
If Cathy had a color-blind son (X
c
Y), then John would have no grounds for suspicion. The son would have inherited John’s Y chromosome and the color-blind X chromosome from Cathy, who could have been heterozygous (X
+
X
c
).
27.
Maria has red– green color blindness; Juan has normal color vision. Together, Maria and Juan have two children, Maggi and Daniel. Draw the sex chromosomes of Maggi and Daniel at the following stages, and label on these chromosomes the alleles for color blindness and normal color vision (see Chapter 2 for stages of meiosis). Assume that no crossing over has occurred.
a. Metaphase of mitosis
b. Metaphase I of meiosis
c. Metaphase II of meiosis
Solution: The allele for colorblindness (c) is located on the maternal X (yellow) and the allele for normal color vision (C) is located on the paternal X (blue). The Y chromosome (gray) has
no allele for color vision. The chromosomes consist of two chromatids. a.
Maggi has two X chromosomes, the one from her mother Maria with the allele for
colorblindness and the other one from her father Juan with the normal allele. Daniel possesses only one X chromosome, which he received from Maria. In mitosis, the homologous chromosomes do not pair when they line up at the equator of the cell.
b.
At metaphase I of meiosis, the homologous chromosomes are paired and line up as pairs at the cell equator.
c.
At metaphase II of meiosis, each cell formed by meiosis I has only one sex chromosome. 28.
Red-green color-blindness in humans is due to an X-linked recessive gene. A woman whose father is color-blind possesses one eye with normal color vision and one eye with color-blindness. a.
Propose an explanation for this woman’s vision pattern. Assume that no new mutations have spontaneously arisen.
Solution:
The woman is heterozygous, with one X chromosome bearing the allele for normal vision and one X chromosome with the allele for color-blindness. One of the two X chromosomes is inactivated at random during early embryogenesis. If one eye
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derived exclusively from progenitor cells that inactivated the normal X, then that eye
would be color-blind, whereas the other eye may be derived from progenitor cells that inactivated the color-blind X, or is a mosaic with sufficient normal retinal cells to permit color vision.
b.
Would it be possible for a man to have one eye with normal color vision and one eye
with color-blindness?
Solution:
An XY male would not be able to have one eye with color vision and one eye with color-blindness through X-inactivation, as males only have a single X chromosome. If the man were XXY (Klinefelter syndrome), then he might have one eye with color
vision and one eye with color-blindness through X inactivation, as explained in part (a). Another rare possibility would be a somatic mutation in the progenitor cells for one retina but not the other.
28. In 1875, Charles Darwin, author of On the Origin of
Species , wrote of a peculiar family from Sind, a province in northwest India (C. Darwin. The Variation of Animals
and Plants under Domestication , 2nd ed. 1875. London: John Murray, London. p. 319 ):
. . . in which ten men, in the course of four generations, were furnished in both jaws taken together, with only four small and weak incisor teeth and with eight posterior molars. The men thus affected have little hair on the body, and become bald early in life. They also suffer much during hot weather from excessive dry-
ness of the skin. It is remarkable that no instance has occurred of a daughter being
thus affected. . . . Though daughters in the above family are never affected, they transmit the tendency to their sons; and no case has occurred of a son transmitting
it to his sons.
The men in this family had a condition that is now known as hypohidrotic ectodermal dysplasia. Darwin’s account is an accurate description of the symptoms and inheritance of this disorder. Based on Darwin’s description, what is the most likely mode of inheri-
tance for hypohidrotic ectodermal dysplasia? What evidence in Darwin’s description sup-
ports your conclusion? (See also Problem 47 and Think-Pair-
Share Question 8.)
Solution:
Hypohidrotic dysplasia (HED) is an X-linked recessive trait. Three observations provide evidence for this mode of inheritance: 1) this trait is expressed only in males of a family and not in females, 2) unaffected daughters in families with HED transmit to sons and not
to their daughters, and 3) there is no father to son transmission. The latter is highly supportive of X-linked inheritance. The absence of the trait in females, who are presumably heterozygous, indicates that the trait is recessive.
*30.
Bob has XXY chromosomes (Klinefelter syndrome) and is color-blind. His mother and father have normal color vision, but his maternal grandfather is color-blind. Assume that Bob’s chromosome abnormality arose from nondisjunction in meiosis. In which parent
and in which meiotic division did nondisjunction take place? Assume no crossing over has taken place. Explain your answer.
Solution:
Because Bob must have inherited the Y chromosome from his father, and his father has normal color vision, there is no way a nondisjunction event from the paternal lineage could account for Bob’s genotype. Bob’s mother must be heterozygous X
+
X
c
because she has normal color vision, and she must have inherited a color-blind X chromosome from her color-blind father. For Bob to inherit two color-blind X chromosomes from his mother, the egg must have arisen from a nondisjunction in meiosis II. In meiosis I, the homologous X chromosomes separate, so one cell has the X
+
and the other has X
c
. Failure
of sister chromatids to separate in meiosis II would then result in an egg with two copies of X
c
. 31.
Xg is an antigen found on red blood cells. This antigen is caused by an X-linked allele (X
a
) that is dominant over an allele for the absence of the antigen (X
–
). The inheritance of
these X-linked alleles was studied in children with chromosome abnormalities to determine where nondisjunction of the sex chromosomes took place. For each type of mating in parts a
through d
, indicate whether nondisjunction took place in the mother or in the father and, if possible, whether it took place in meiosis I or meiosis II (assume no crossing over).
a.
X
a
Y
X
–
X
–
X
a
(Turner syndrome)
b.
X
a
Y
X
a
X
–
X
–
(Turner syndrome)
c.
X
a
Y
X
–
X
–
X
a
X
–
Y (Klinefelter syndrome) d.
X
a
Y
X
a
X
–
X
–
X
–
Y (Klinefelter syndrome)
Solution:
This child received two copies of X
–
, which must have come from the mother. Thus, nondisjunction took place in the mother. This must have occurred in meiosis II, where the
sister chromatids of the X
–
chromosome failed to separate.
32.
The Talmud, an ancient book of Jewish civil and religious laws, states that if a woman bears two sons who die of bleeding after circumcision (removal of the foreskin from the penis), any additional sons that she has should not be circumcised. (The bleeding is most likely due to the X-linked disorder hemophilia.) Furthermore, the Talmud states that the sons of her sisters must not be circumcised, while the sons of her brothers should be. Is this religious law consistent with sound genetic principles? Explain your answer. Solution:
Yes. If a woman has a son with hemophilia, then she carries at least one X
h
allele for hemophilia. If she is a carrier (X
+
X
h
), any of her sons have a 50% chance of inheriting the
X
h
allele and having hemophilia. If she is homozygous X
h
X
h
(unlikely), then all sons will inherit the X
h
allele and have hemophilia. Thus, it is prudent that her sons not be circumcised. Her sisters may also be carriers and thus their sons should also not be
circumcised. Males always pass on their Y chromosome to their sons, so her brothers cannot pass on the hemophilia allele to their sons.
33.
Craniofrontonasal syndrome (CFNS) is a birth defect in which premature fusion of the cranial sutures leads to abnormal head shape, widely spaced eyes, nasal clefts, and various other skeletal abnormalities. George Feldman and his colleagues looked at several families in which offspring had CFNS and recorded the results shown in the following table (G. J. Feldman. 1997. Human Molecular Genetics 6:1937–1941).
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Parents
Offspring
Family number
Father
Mother
Normal
male
Normal
female
CFNS
male
CFNS
female
1
normal
CFNS
1
0
2
1
5
normal
CFNS
0
2
1
2
6
normal
CFNS
0
0
1
2
8
normal
CFNS
1
1
1
0
10a
CFNS
normal
3
0
0
2
10b
normal
CFNS
1
1
2
0
12
CFNS
normal
0
0
0
1
13a
normal
CFNS
0
1
2
1
13b
CFNS
normal
0
0
0
2
7b
CFNS
normal
0
0
0
2
a.
On the basis of these results, what is the most likely mode of inheritance for CFNS? Solution:
Children with CFNS are born in families where one parent has CFNS. Thus, CFNS
is most likely a dominant trait. Moreover, we see that in families where the father has CFNS and the mother does not, CFNS is transmitted only to girls, not to boys. If the mother has CFNS, then both boys and girls may have CFNS. These data are consistent with an X-linked dominant mode of inheritance for CFNS.
b.
Give the most likely genotypes of the parents in families numbered 1 and 10a.
Solution:
Family 1: normal father (X
+
Y)
CFNS mother (X
+
X
C
)
Family 10a: CFNS father (X
C
Y)
normal mother (X
+
X
+
)
34.
Miniature wings (X
m
) in Drosophila
result from an X-linked allele that is recessive to the allele for long wings (X
+
). Give the genotypes of the parents in the following crosses.
Male parent
Female parent
Male offspring
Female off-
spring
a
.
Long
Long
231 long, 250 minia-
ture
560 long
b
.
Miniature
Long
610 long
632 long
c
.
Miniature
Long
410 long, 417 minia-
ture
412 long, 415 minia-
ture
d
.
Long
Miniature
753 miniature
761 long
e
.
Long
Long
625 long
630 long
Solution:
The genotype of the male parent is the same as his phenotype for an X-linked trait. Because the male progeny inherit their X chromosomes from their mother, the phenotypes of the male progeny give us the genotypes of the female parent. a.
Male parent is X
+
Y. Because the male offspring are 1:1 long:miniature, the female parent must be X
+
X
m
. You can use a Punnett square to verify that all the female progeny from such a cross will have long wings (they get the dominant X
+
from the father).
b.
Male parent is X
m
Y. Because the male offspring are all long, the female parent must be X
+
X
+
. c.
Male parent is X
m
Y; female parent is X
+
X
m
.
d.
Male parent is X
+
Y; female parent is X
m
X
m
.
e.
Male parent is X
+
Y; female parent is X
+
X
+
.
*35.
In chickens, congenital baldness is due to a Z-linked recessive gene. A bald rooster is mated with a normal hen. The F
1
from this cross are interbred to produce the F
2
. Give the genotypes and phenotypes, along with their expected proportions, among the F
1
and F
2
progeny.
Solution:
For species with the ZZ-ZW sex-determination system, the females are heterogametic ZW. So a bald rooster must be Z
b
Z
b
(where Z
b
denotes the recessive allele for baldness), and a normal hen must be Z
+
W. P
Z
b
Z
b
× Z
+
W
F
1
½ Z
b
Z
+
(normal males)
½ Z
b
W (bald females)
F
2
Using a Punnett square:
1
Z
b Z
b
W W
Z
+
Z
+
Z
b
(normal roosters)
Z
+
W (normal hens)
Z
b
Z
b
Z
b
(bald roosters)
Z
b
W (bald hens)
36.
If the blue F
1
females in Figure 4.15b
are backcrossed to the blue males in the P
generation, what types and proportions of offspring will be produced?
Solution:
The F
1 females are Z
Ca
+
W. If they are backcrossed to blue males in the P
generation (Z
Ca
+
Z
Ca
+
), the resulting progeny will be ½ Z
Ca
+
Z
Ca
+
(blue males) and ½ Z
Ca
+ W (blue females). So all of the offspring will be blue. 37.
Red-green color-blindness is an X-linked recessive trait in humans. Polydactyly (extra fingers and toes) is an autosomal dominant trait. Martha has normal fingers and toes and normal color vision. Her mother is normal in all respects, but her father is color-blind and
polydactylous. Bill-is color-blind and polydactylous. His mother has normal color vision
and normal fingers and toes. If Bill and Martha marry, what types and proportions of children can they produce?
Solution:
The first step is to deduce the genotypes of Martha and Bill. Because the two traits are on
different chromosomes, they are independent, and we can deal with just one trait at a time.
Starting with the X-linked color-blind trait, Bill must be X
c
Y because he is color-blind. Bill’s mother has normal color vision, and she passed a color-blind allele to Bill, so she must be a carrier (X
+
X
c
). Martha must be X
+
X
c
, a carrier for color-blindness, because she has normal color vision and her father is color-blind (X
c
Y).
For polydactyly, Bill must be Dd (
D
denotes the dominant polydactyly allele). Because his mother has normal fingers (
dd
), he cannot be homozygous
DD
. Martha, with normal fingers, must be dd
.
If Martha (
dd
, X
+
X
c
) marries Bill (
Dd
, X
c
Y), then we can predict the types and probability ratios of children they could produce.
For polydactyly, the cross is dd
× Dd
. ½ of the children will be polydactylous, and ½ will have normal fingers.
For color-blindness, the cross is X
+
X
c
× X
c
Y , so ¼ of children will be color-blind girls, ¼
will be girls with normal vision but carrying the color-blindness allele, ¼ will be color-
blind boys, and ¼ will be boys with normal vision. Combining both traits, the probability of the different phenotypes is:
color-blind girls (1/4) with normal fingers (1/2) = ¼ × ½ = 1/8
color-blind girls (1/4) with polydactyly (1/2) = ¼ × ½ = 1/8 girls with normal vision (1/4) and normal fingers (1/2) = ¼ × ½ = 1/8
girls with normal vision (1/4) and polydactyly (1/2) = ¼ × ½ = 1/8
color-blind boys (1/4) with normal fingers (1/2) = ¼ × ½ = 1/8
color-blind boys (1/4) with polydactyly (1/2) = ¼ × ½ = 1/8
boys with normal vision (1/4) and normal fingers (1/2) = ¼ × ½ = 1/8
boys with normal vision (1/4) and polydactyly (1/2) = ¼ × ½ = 1/8
This analysis can also be carried out with a Punnett square.
36. A Drosophila
mutation called singed
(
s
) causes the bristles to be bent and misshapen. A mutation called purple
(
p
) causes the fly’s eyes to be purple in color instead of the normal
red. Flies homozygous for singed
and purple
were crossed with flies that were homozygous for normal bristles and red eyes. The F
1
were intercrossed to produce the F
2
, and the following results were obtained.
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Cross 1
P
: male, singed bristles, purple eyes
female, normal bristles, red eyes
F
1
: 420 female, normal bristles, red eyes
426 male, normal bristles, red eyes
F
2
: 337 female, normal bristles, red eyes
113 female, normal bristles, purple eyes
168 male, normal bristles, red eyes
170 male, singed bristles, red eyes
56 male, normal bristles, purple eyes
58 male, singed bristles, purple eyes
Cross 2
P
: female, singed bristles, purple eyes
male, normal bristles, red eyes
F
1
: 504 female, normal bristles, red eyes
498 male, singed bristles, red eyes
F
2
: 227 female, normal bristles, red eyes
223 female, singed bristles, red eyes
225 male, normal bristles, red eyes
225 male, singed bristles, red eyes
78 female, normal bristles, purple eyes
76 female, singed bristles, purple eyes
74 male, normal bristles, purple eyes
72 male, singed bristles, purple eyes
a.
What are the modes of inheritance of singed
and purple
? Explain your reasoning.
Solution:
We examine each trait separately.
The singed mutation is recessive because the F
1
for Cross 1 all have normal bristles. It is also X-linked because the reciprocal crosses (Cross 1 and Cross 2) give different F
1
progeny: Cross 2 yields F
1
singed males and normal females.
The purple eye-color mutation appears recessive because the F
1
progeny of both crosses all have red eyes. It appears autosomal because there is no difference in the progeny of the reciprocal crosses, and also because there is no significant difference between male and female progeny with respect to eye color.
b.
Give genotypes for the parents and offspring in the P, F
1
, and F
2
generations of Cross 1 and Cross 2.
Solution:
We define X
s
as the singed allele, X
+
as the normal bristles allele, p as the purple allele, and P
as the red-eyed allele.
Cross 1:
The F
1
males all have normal bristles, so the female parent is homozygous for normal bristles: X
+
X
+
. The singed male parent is X
s
Y.
The purple-eyed male parent must be homozygous recessive pp
. The red-eyed female parent must be homozygous PP because all the progeny have red eyes. P
male, singed bristles, purple eyes
female, normal bristles, red eyes
X
s
Y, pp
X
+
X
+
, PP
F
1
420 female, normal bristles, red eyes
X
+
X
s
, Pp
426 male, normal bristles, red eyes X
+
Y, Pp
F
2
337 female, normal bristles, red eyes X
+
X
+
, PP
X
+
X
s
, PP
X
+
X
+
, Pp
(2)
X
+
X
s
,
Pp
(2)
113 female, normal bristles, purple eyes
X
+
X
+
, pp
X
+
X
s
, pp
168 male, normal bristles, red eyes
X
+
Y, PP
X
+
Y, Pp
(2)
170 male, singed bristles, red eyes
X
s
Y, PP
X
s
Y, Pp
(2)
56 male, normal bristles, purple eyes
X
+
Y, pp
58 male, singed bristles, purple eyes
X
s
Y, pp
Cross 2:
The female parent with the recessive singed bristles must be homozygous X
s
X
s
, and the male parent must be X
+
Y. The purple-eyed parent is pp
, and the red-eyed parent must be homozygous PP
because the F
1
all have red eyes.
P
female, singed bristles, purple eyes
male, normal bristles, red eyes
X
s
X
s
, pp
X
+
Y, PP
F
1
504 female, normal bristles, red eyes
X
+
X
s
, Pp
498 male, singed bristles, red eyes X
s
Y, Pp
F
2
227 female, normal bristles, red eyes X
+
X
s
, PP
X
+
X
s
, Pp
(2)
223 female, singed bristles, red eyes
X
s
X
s
, PP
X
s
X
s
, Pp
(2)
225 male, normal bristles, red eyes
X
+
Y, PP
X
+
Y, Pp (2)
225 male, singed bristles, red eyes
X
s
Y, PP
X
s
Y, Pp
(2)
78 female, normal bristles, purple eyes
X
+
Xs, pp
76 female, singed bristles, purple eyes
X
s
X
s
, pp
74 male, normal bristles, purple eyes X
+
Y, pp
72 male, singed bristles, purple eyes
X
s
Y, pp
The (2) indicates that there are twice as many of these genotypes.
39.
The following two genotypes are crossed: Aa Bb Cc X
+ X
r
× Aa BB cc X
+
Y, where a
, b
, and c
represent alleles of autosomal genes and X
+
and X
r
represent X-linked alleles in an organism with XX-XY sex determination. What is the probability of obtaining genotype aa Bb Cc X
+ X
+
in the progeny?
Solution:
We have to assume that the autosomal genes a
, b
, and c
assort independently of each other as well as of the sex chromosomes. Given independent assortment, we can calculate
the probability of the genotype for each gene separately, and then multiply the probabilities to calculate the probability of the combined genotype for all four genes.
For gene a
: Aa
× Aa
→ ¼ aa
For gene b
: Bb
× BB
→ ½ Bb
For gene c
: Cc
× cc
→ ½ Cc
For the sex-linked gene r
: X
+
X
r
× X
+
Y → ¼ X
+
X
+
Combined probability of genotype aa Bb Cc X
+
X
+
= ¼ × ½ × ½ × ¼ = 1/64
*40.Miniature wings in Drosophila are due to
an X-linked gene (X
m
) that is recessive to an allele for long wings (X
+
). Sepia eyes are produced by an autosomal gene (
s
) that is recessive to an allele for red eyes (
s
+
). a.
A female fly that has miniature wings and sepia eyes is crossed with a male that has
normal wings and is homozygous for red eyes. The F
1
are intercrossed to produce the F
2
. Give the phenotypes, as well as their expected proportions, of the F
1
and F
2
flies.
Solution:
The female parent (miniature wings, sepia eyes) must be X
m
X
m
, ss
.
The male parent (normal wings, homozygous red eyes) is X
+
Y, s
+
s
+
.
The F
1
males are X
m
Y, s
+
s (miniature wings, red eyes)
The F
1
females are X
+
X
m
, s
+
s (long wings, red eyes)
The proportions expected in the F
2
can be obtained by breaking the cross into two separate crosses, one for each locus, and then combining the probabilities with the branch method.
First, let’s determine the outcome for the locus that codes for eye color.
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Next, let’s consider the locus that determines wing length.
Now we can use the branch method to combine the probability of obtaining both characteristics together in the F
2
.
b.
A female fly that is homozygous for normal wings and has sepia eyes is crossed with a male that has miniature wings and is homozygous for red eyes. The F
1
are intercrossed to produce the F
2
. Give the phenotypes, as well as their expected proportions, of the F
1
and F
2
flies.
Solution:
The female parent (homozygous for normal wings, sepia eyes) is X
+
X
+
, ss
The male parent (miniature wings, homozygous red eyes) is X
m
Y, s
+
s
+
The F1 males are X
+
Y, s
+
s (normal wings, red eyes)
The F1 females are X
+
X
m
, s
+
s (normal wings, red eyes)
At the eye color locus, we expect the following proportions in the F
2
.
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At the locus that determines wing length, we expect the following proportions in the F
2
.
Now we can apply the branch method to combine the probability of obtaining both
characteristics together in the F
2
.
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41.
Suppose that a recessive gene that produces a short tail in mice is located in the pseudoautosomal region. A short-tailed male mouse is mated with a female mouse that is homozygous for a normal tail. The F
1
from this cross are intercrossed to produce the F
2
. Give the phenotypes, as well as their proportions, of the F
1
and F
2
mice.
Solution:
A gene in the pseudoautosomal region must be present on both X and Y chromosomes. We will use X
+
and Y
+
for the normal alleles and X
s
and Y
s
for the short-tail alleles. The short-tailed male must be X
s
Y
s
, and the normal female is X
+
X
+
. Assuming no crossing over between the gene and the sex-determining factor, the expected F
1
are: X
+
Y
s
males with long tails and X
+
X
s
females with long tails.
F
2
from the intercross will be:
¼ X
+
Y
s
males with long tails ¼ X
s
Y
s
males with short tails ¼ X
+
X
+
females with long tails ¼ X
+
X
s
females with long tails So all the females will have long tails, and equal proportions of the males will have short and long tails.
*42.
A color-blind woman and a man with normal vision have three sons and six daughters. All the sons are color-blind. Five of the daughters have normal vision, but one of them is color-blind. The color-blind daughter is 16 years old, is short for her age, and has not undergone puberty. Explain how this girl inherited her color blindness.
Solution:
Color-blindness is an X-linked recessive trait, so the mother is X
c
X
c
and the father must be X
+
Y. Normally, all the sons would be color-blind (X
c
Y) and all the daughters should have normal vision (X
c
X
+
). The most likely way to have a daughter who is color-blind would be for her not to have inherited an X
+
from her father. The observation that the color-blind daughter is short in stature and has failed to undergo puberty is consistent with Turner syndrome (XO). The color-blind daughter would then be X
c
O.
43.
Orange coat color in cats is an X- linked trait that is recessive to black. A black female cat had a father who was orange. How many copies of the orange allele will be present in the following cells in oogenesis of this black female? See Figure 2.20 for a review of oogenesis in animals.
a. primary oocyte
b. first polar body
c. ovum
Solution:
a.
The primary oocyte will have one orange allele as well as one black allele. b.
Assuming that there is no nondisjunction of the X chromosomes and no crossing over
involving this locus, the first polar body will have either the orange allele or the black
allele. There is a 50% chance that the polar body will receive the orange allele.
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c.
As for part b, there is a 50% chance that the ovum will have the orange allele. However, if the first polar body receives the X with the orange allele, then the ovum has no chance of having the orange allele unless there was a nondisjunction event.
Section 4.3
*44.How many Barr bodies would you expect to see in a human cell containing the following chromosomes?
Solution:
During the process of X-inactivation, all but one X chromosome is inactivated and each inactivated X becomes a Barr body, so there should be one less Barr body than the number of X chromosomes.
a.
XX—1 Barr body
b.
XY—0
c.
XO—0
d.
XXY—1
e.
XXYY—1
f.
XXXY—2 g.
XYY—0 h.
XXX—2
i.
XXXX—3 45.
A woman with normal chromosomes mates with a man who also has normal chromosomes.
a.
Suppose that, in the course of oogenesis, the woman’s sex chromosomes undergo nondisjunction in meiosis I; the man’s chromosomes separate normally. Give all possible combinations of sex chromosomes that this couple’s children might inherit and the number of Barr bodies you would expect to see in each of the cells of each child.
Solution:
Eggs produced by nondisjunction in meiosis I: XX and O Sperm produced by normal meiosis: X and Y
Children: XXX (two Barr bodies), XO (no Barr body), XXY (one Barr body). YO would be embryonic lethal, so it would not be seen in any human child.
b.
What chromosome combinations and numbers of Barr bodies would you expect to see if the chromosomes separate normally in oogenesis, but nondisjunction of the sex chromosomes takes place in meiosis I of spermatogenesis?
Solution:
Eggs produced by normal meiosis: X
Sperm produced by nondisjunction in meiosis I: XY and O Children: XXY (one Barr body) and XO (no Barr body)
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46.
What is the most likely sex and genotype of the cat shown in Figure 4.19
?
Solution:
The cat has the tortoiseshell phenotype, which is produced by being heterozygous for black and orange alleles at the X-linked color locus (X
+
X
o
). Because the genes for black and orange are X-linked, tortoiseshell cats are female; males normally only have a single X chromosome and therefore cannot be heterozygous.
*47.
Hypohidrotic ectodermal dysplasia (also known as anhidrotic ectodermal dysplasia) is an X-linked recessive disorder in humans characterized by small teeth, no sweat glands, and sparse body hair. This trait is usually seen in men, but women who are heterozygous
carriers of the trait often have irregular patches of skin with few or no sweat glands (see the illustration below).
a.
Explain why women who are heterozygous carriers of a recessive gene for hypo-
hidrotic ectodermal dysplasia have irregular patches of skin lacking sweat glands.
Solution:
X-inactivation occurs randomly in each of the cells of the early embryo, and is then maintained in the mitotic progeny cells. The irregular patches of skin lacking sweat
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glands arose from skin precursor cells that inactivated the X chromosome with the normal allele.
b.
Why does the distribution of the patches of skin lacking sweat glands differ among the
females depicted in the illustration, even between the two identical twins?
Solution:
The X-inactivation event occurs randomly in each of the cells of the early embryo. Even in identical twins, the different ectodermal precursor cells will inactivate different X chromosomes, resulting in different distributions of patches lacking sweat glands.
CHALLENGE QUESTIONS
Section 4.2
*48.A geneticist discovers a male mouse with greatly enlarged testes in his laboratory colony. He suspects that this trait results from a new mutation that is either Y-linked or autosomal
dominant. How could he determine if the trait is autosomal dominant or Y-linked?
Solution:
Because testes are present only in males, enlarged testes could either be a sex-limited autosomal dominant trait or a Y-linked trait. The key to distinguishing between these two possibilities is that Y linked traits can only be passed through males, whereas a sex-
limited autosomal dominant trait can be passed through females, although these females will not exhibit the trait themselves. Therefore, if the trait is inherited through an unaffected female, it cannot be Y-linked. Also, a male with a Y-linked trait passes the trait
on to all of his sons (because all sons inherit his Y chromosome), whereas a male heterozygous for an autosomal dominant passes the trait on to ½ of his sons on average. Thus, if the trait is not inherited by all sons of an affected male, it cannot be Y-linked.
Section 4.3
49.
Human females who are heterozygous for X-linked recessive genes sometimes exhibit mild expression of the trait. However, such mild expression of X-linked in females who are heterozygous for X-linked alleles is not seen in Drosophila.
What might cause this difference in the expression of X-linked genes in female humans and Drosophila?
(Hint: In Drosophila,
dosage compensation is accomplished by doubling the activity of genes on
the X chromosome of males.)
Solution:
In humans and other mammals, X-inactivation results in females that are mosaic for X-
linked heterozygous loci, with some cells expressing the dominant allele and some cells expressing the recessive allele. Thus, heterozygous females sometimes exhibit mild expression of the trait. In flies, however, X inactivation does not occur. Therefore, all the cells in female flies express the dominant allele and exhibit the dominant phenotype.
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50.
Identical twins (also called monozygotic twins) are derived from a single egg fertilized by a single sperm, creating a zygote that later divides into two (see Chapter 6). Because identical twins originate from a single zygote, they are genetically identical.
Caroline Loat and her colleagues examined nine measures of social, behavioral, and cognitive ability in 1000 pairs of identical male twins and 1000 pairs of identical female twins (C. S. Loat et al. 2004. Twin Research
7:54–61). They found that, for three of the measures (prosocial behavior, peer problems, and verbal ability), the two male twins of a pair tended to be more alike in their scores than were two female twins of a pair. Propose a possible explanation for this observation. What might this observation indicate about the location of genes that influence prosocial behavior, peer problems, and verbal ability?
Solution:
The major cause of increased variability among female identical twins compared to male identical twins must be that only females undergo X-inactivation. As a result, females heterozygous for X-linked loci are mosaic, with some cells expressing one allele and other cells expressing the other allele. Since the X-inactivation is random, even identical twins will have different compositions of neural cells expressing different X-linked alleles. This suggests that some genes influencing prosocial behavior, peer problems, and verbal ability are located on the X chromosome.
51.
Occasionally, a mouse X chromosome is broken into two pieces and each piece becomes attached to a different autosomal chromosome. In this event, the genes on only one of the two pieces undergo X-inactivation. What does this observation indicate about the mechanism of X-chromosome inactivation? Solution:
One hypothesis consistent with this observation is that the X-inactivation mechanism requires or recognizes a specific region or locus on the X-chromosome and inactivates only DNA physically attached to this center of inactivation. When the X-chromosome breaks, the fragment containing the X-inactivation locus, or center, becomes inactivated. The other fragment escapes inactivation because it is no longer attached to the inactivation locus.
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