How do we know whether or not a heteromorphic chromosome such as the Y chromosome plays a crucial role in the determination of sex?

In the discussion, we have focused on sex differentiation, sex chromosomes, and genetic mechanisms involved in sex determination. At the same time, we found many opportunities to consider the methods and reasoning by which much of this information was acquired. From the explanations, you should answer the following fundamental questions?

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?

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?

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?

Describe the major difference between sex determination in Drosophila and in humans.

What specific observations (evidence) support the conclusions about sex determination in Drosophila and humans?

Describe how nondisjunction in human female gametes can give rise to Klinefelter and Turner syndrome offspring following fertilization by a normal male gamete.

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.

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.

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.

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.

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?

What is a Barr body, and where is it found in a cell?

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.

Define the Lyon hypothesis.

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?

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).

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).

In the wasp Bracon hebetor, a form of parthenogenesis (the development of unfertilized eggs into progeny) resulting in haploid organisms is not uncommon. All haploids are males. When offspring arise from fertilization, females almost invariably result. P. W. Whiting has shown that an X-linked gene with nine multiple alleles (Xₐ, Xb, etc.) controls sex determination. Any homozygous or hemizygous condition results in males, and any heterozygous condition results in females. If an Xₐ/Xb female mates with an Xₐ male and lays 50 percent fertilized and 50 percent unfertilized eggs, what proportion of male and female offspring will result?

The Amami spiny rat (Tokudaia osimensis) lacks a Y chromosome, yet scientists at Hokkaido University in Japan have reported that key sex-determining genes continue to be expressed in this species. Provide possible explanations for why male differentiation can still occur in this mammalian species despite the absence of a Y chromosome.

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?