Problem 1a
How do we know that in humans the X chromosomes play no role in human sex determination, while the Y chromosome causes maleness and its absence causes femaleness?
Problem 1b
How did we originally (in the late 1940s) analyze the sex ratio at conception in humans, and how has our approach to studying this issue changed in 2015?
Problem 1c
How do we know that X chromosomal inactivation of either the paternal or maternal homolog is a random event during early development in mammalian females?
Problem 1d
How do we know that Drosophila utilizes a different sex-determination mechanism than mammals, even though it has the same sex-chromosome compositions in males and females?
Problem 2
Write a short essay that discusses sex chromosomes as they contrast with autosomes.
Problem 3a
As related to sex determination, what is meant by:
homomorphic and heteromorphic chromosomes
Problem 3b
As related to sex determination, what is meant by:
homogametic sex and heterogametic sex?
Problem 4
Distinguish between the concepts of sexual differentiation and sex determination.
Problem 5
Contrast the XX/XY and XX/X0 modes of sex determination.
Problem 6
Describe the major difference between sex determination in Drosophila and in humans.
Problem 7
How do mammals, including humans, solve the 'dosage problem' caused by the presence of an X and Y chromosome in one sex and two X chromosomes in the other sex?
Problem 8
What specific observations (evidence) support the conclusions about sex determination in Drosophila and humans?
Problem 9
Describe how nondisjunction in human female gametes can give rise to Klinefelter and Turner syndrome offspring following fertilization by a normal male gamete.
Problem 10a
An insect species is discovered in which the heterogametic sex is unknown. An X-linked recessive mutation for reduced wing (rw) is discovered. Contrast the F1 and F2 generations from a cross between a female with reduced wings and a male with normal-sized wings when the female is the heterogametic sex.
Problem 10b
An insect species is discovered in which the heterogametic sex is unknown. An X-linked recessive mutation for reduced wing (rw) is discovered. Contrast the F1 and F2 generations from a cross between a female with reduced wings and a male with normal-sized wings when the male is the heterogametic sex.
Problem 11
Given your answers to Problem 10, is it possible to distinguish between the Protenor and Lygaeus mode of sex determination based on the outcome of these crosses?
Problem 12
When cows have twin calves of unlike sex (fraternal twins), the female twin is usually sterile and has masculinized reproductive organs. This calf is referred to as a freemartin. In cows, twins may share a common placenta and thus fetal circulation. Predict why a freemartin develops.
Problem 13
An attached-X female fly, XXY, expresses the recessive X-linked white-eye mutation. It is crossed to a male fly that expresses the X-linked recessive miniature-wing mutation. Determine the outcome of this cross in terms of sex, eye color, and wing size of the offspring.
Problem 14
Assume that on rare occasions the attached X chromosomes in female gametes become unattached. Based on the parental phenotypes in Problem 12, what outcomes in the F₁ generation would indicate that this has occurred during female meiosis?
Problem 15
It has been suggested that any male-determining genes contained on the Y chromosome in humans cannot be located in the limited region that synapses with the X chromosome during meiosis. What might be the outcome if such genes were located in this region?
Problem 16
What is a Barr body, and where is it found in a cell?
Problem 17
Indicate the expected number of Barr bodies in interphase cells of individuals with Klinefelter syndrome, Turner syndrome, and karyotypes 47, XYY, 47, XXX, and 48, XXXX.
Problem 18
Define the Lyon hypothesis.
Problem 19
Can the Lyon hypothesis be tested in a human female who is homozygous for one allele of the X-linked G6PD gene? Why, or why not?
Problem 20
Predict the potential effect of the Lyon hypothesis on the retina of a human female heterozygous for the X-linked red-green color blindness trait.
Problem 21
Cat breeders are aware that kittens expressing the X-linked calico coat pattern and tortoiseshell pattern are almost invariably females. Why are they certain of this?
Problem 22
What does the apparent need for dosage compensation mechanisms suggest about the expression of genetic information in normal diploid individuals?
Problem 23
In mice, the Sry gene is located on the Y chromosome very close to one of the pseudoautosomal regions that pairs with the X chromosome during male meiosis. Given this information, propose a model to explain the generation of unusual males who have two X chromosomes (with an Sry-containing piece of the Y chromosome attached to one X chromosome).
Problem 24
The genes encoding the red- and green-color-detecting proteins of the human eye are located next to one another on the X chromosome and probably evolved from a common ancestral pigment gene. The two proteins demonstrate 76 percent homology in their amino acid sequences. A normal-visioned woman (with both genes present on each of her two X chromosomes) has a red-color-blind son who was shown to have one copy of the green-detecting gene and no copies of the red-detecting gene. Devise an explanation for these observations at the chromosomal level (involving meiosis).
Problem 25
In mice, the X-linked dominant mutation Testicular feminization (Tfm) eliminates the normal response to the testicular hormone testosterone during sexual differentiation. An XY mouse bearing the Tfm allele on the X chromosome develops testes, but no further male differentiation occurs—the external genitalia of such an animal are female. From this information, what might you conclude about the role of the Tfm gene product and the X and Y chromosomes in sex determination and sexual differentiation in mammals? Can you devise an experiment, assuming you can 'genetically engineer' the chromosomes of mice, to test and confirm your explanation?
Ch. 5 - Sex Determination and Sex Chromosomes