3. Extensions to Mendelian Inheritance

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 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 humans, SRY is located near a pseudoautosomal region (PAR) of the Y chromosome, a region of homology between the X and Y chromosomes that allows them to synapse during meiosis in males and is a region of crossover between the chromosomes. The diagram below shows SRY in relation to the pseudoautosomal region.

About 1 in every 25,000 newborn infants is born with sex reversal; the infant is either an apparent male but with two X chromosomes or an apparent female but with an X and a Y chromosome. Explain the origin of sex reversal in human males and females involving the SRY gene. (Hint: See Experimental Insight 3.1 for a clue about the mutational mechanism.) 

In C. elegans there are two sexes: hermaphrodite and male. Sex is determined by the ratio of X chromosomes to haploid sets of autosomes (X/A). An X/A ratio of 1.0 produces a hermaphrodite (XX), and an X/A ratio of 0.5 results in a male (XO). In the 1970s, Jonathan Hodgkin and Sydney Brenner carried out genetic screens to identify mutations in three genes that result in either XX males (tra-1, tra-2) or XO hermaphrodites (her-1). Double-mutant strains were constructed to assess for epistatic interactions between the genes (see table). Propose a genetic model of how the her and tra genes control sex determination.

A wild-type Drosophila male and female are crossed, producing 324 female progeny and 161 male progeny. All their progeny are wild type.

Propose a genetic hypothesis to explain these data.

A wild-type Drosophila male and female are crossed, producing 324 female progeny and 161 male progeny. All their progeny are wild type.

Design an experiment that will test your hypothesis, using the wild-type progeny identified above. Describe the results you expect if your hypothesis is true.

In chickens, a key gene involved in sex determination has recently been identified. Called DMRT1, it is located on the Z chromosome and is absent on the W chromosome. Like SRY in humans, it is male determining. Unlike SRY in humans, however, female chickens (ZW) have a single copy while males (ZZ) have two copies of the gene. Nevertheless, it is transcribed only in the developing testis. Working in the laboratory of Andrew Sinclair (a co-discoverer of the human SRY gene), Craig Smith and colleagues were able to 'knock down' expression of DMRT1 in ZZ embryos using RNA interference techniques. In such cases, the developing gonads look more like ovaries than testes. What conclusions can you draw about the role that the DMRT1 gene plays in chickens in contrast to the role the SRY gene plays in humans?