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Ch. 7 - Sex Determination and Sex Chromosomes
Chapter 7, Problem 21

In mice, the Sry gene (see Section 7.2) 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).

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1
Understand that the Sry gene is crucial for male development and is typically located on the Y chromosome.
Recognize that during male meiosis, the X and Y chromosomes pair at pseudoautosomal regions, allowing for recombination.
Consider that if recombination occurs near the Sry gene, it could result in the Sry gene being transferred from the Y chromosome to the X chromosome.
Propose that if an X chromosome acquires the Sry gene through recombination, it could lead to an individual with two X chromosomes developing male characteristics.
Conclude that this recombination event could explain the presence of XX males, where one X chromosome carries the Sry gene, mimicking the presence of a Y chromosome.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Sry Gene Function

The Sry gene, located on the Y chromosome, is crucial for male sex determination in mammals. It encodes a protein that initiates the development of testes, leading to the production of male hormones. Understanding the role of the Sry gene helps explain how its presence can influence the sex phenotype, even in atypical chromosomal configurations.
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Pseudoautosomal Regions (PARs)

Pseudoautosomal regions are segments of the X and Y chromosomes that are homologous and can recombine during meiosis. These regions allow for pairing between the X and Y chromosomes in males, facilitating the proper segregation of sex chromosomes. Their proximity to the Sry gene is significant for understanding how genetic material can be exchanged, potentially leading to unusual chromosomal arrangements.
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Chromosomal Abnormalities and Sex Determination

Chromosomal abnormalities, such as the presence of two X chromosomes in males, can arise from atypical meiotic events, including nondisjunction or translocation. These abnormalities can lead to unique phenotypes, such as the development of male characteristics despite having an XX chromosomal configuration. Analyzing these scenarios is essential for understanding the complexities of sex determination and the genetic mechanisms involved.
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Related Practice
Textbook Question
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?
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Textbook Question
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.
401
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Textbook Question
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?
270
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Textbook Question
What is the role of the enzyme aromatase in sexual differentiation in reptiles?
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Textbook Question
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.
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Textbook Question
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 (see Chapter 18). In such cases, the developing gonads look more like ovaries than testes [Nature 461: 267 (2009)]. 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?
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