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Ch. 7 - Sex Determination and Sex Chromosomes
Chapter 7, Problem 25

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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1
Understand the role of the Y chromosome in typical mammalian sex determination, where the SRY gene on the Y chromosome triggers male development.
Consider alternative mechanisms for sex determination, such as the presence of autosomal or X-linked genes that can compensate for the absence of the Y chromosome.
Explore the possibility of gene duplication or translocation events that might have relocated key sex-determining genes to other chromosomes in the Amami spiny rat.
Investigate the role of environmental factors or epigenetic modifications that could influence sex determination in the absence of a Y chromosome.
Examine the expression of other genes involved in the sex determination pathway, such as SOX9, which could be upregulated to promote male differentiation.

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Key Concepts

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

Sex Determination Mechanisms

Sex determination in mammals typically involves the presence of sex chromosomes, with the Y chromosome playing a crucial role in male differentiation. However, alternative mechanisms can exist, such as environmental factors or the presence of other genes that can influence sex determination, allowing for male characteristics to develop even in the absence of a Y chromosome.
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Gene Expression and Regulation

Gene expression refers to the process by which information from a gene is used to synthesize functional gene products, like proteins. In the case of the Amami spiny rat, key sex-determining genes may still be expressed through regulatory mechanisms that do not rely on the Y chromosome, suggesting that other genetic pathways can compensate for its absence.
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Evolutionary Adaptations

Evolutionary adaptations can lead to significant changes in reproductive strategies and sex determination systems in response to environmental pressures. The Amami spiny rat may have evolved alternative pathways for male differentiation, demonstrating the plasticity of genetic systems and the ability of species to adapt to unique ecological niches.
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Related Practice
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?
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Textbook Question
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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Textbook Question
What is the role of the enzyme aromatase in sexual differentiation in reptiles?
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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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