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Disappearing Y Chromosome: Insights from Rodent Studies Could Illuminate Human Evolution

**Overview of Chromosomal Differences:** In humans, females possess two X chromosomes, while males have one X and a significantly smaller Y chromosome. The X chromosome contains approximately 900 genes involved in a wide range of functions

**Overview of Chromosomal Differences:**

In humans, females possess two X chromosomes, while males have one X and a significantly smaller Y chromosome. The X chromosome contains approximately 900 genes involved in a wide range of functions unrelated to sex determination. In contrast, the Y chromosome, with around 55 genes, is composed of a significant amount of non-coding DNA and contains the crucial gene responsible for initiating male development during embryogenesis.

**Evolutionary Perspective:**

Comparatively, the X and Y chromosomes in humans resemble an ordinary chromosomal pair seen in other species, such as the platypus. This similarity suggests that the mammalian X and Y chromosomes were once equivalent in their evolutionary history. Researchers estimate that the Y chromosome has lost approximately 845 active genes over the past 166 million years, averaging a loss of about five genes per million years. At this rate, the remaining 55 genes could be completely lost in approximately 11 million years.

**Rodent Studies on Y Chromosome Loss:**

To explore the implications of the diminishing Y chromosome, scientists have studied rodent lineages that have already lost their Y chromosome while continuing to thrive. Notable examples include the mole voles of Eastern Europe and the spiny rats of Japan. These species have evolved to survive without the Y chromosome, retaining only the X chromosome in one or two copies in both sexes.

**Findings from Spiny Rats:**

A research team led by biologist Asato Kuroiwa from Hokkaido University conducted an in-depth study on the spiny rat. Their findings revealed that most Y chromosome genes in these rodents had been relocated to other chromosomes. Surprisingly, they did not find the SRY gene, nor a substitute for it. Instead, the team identified a tiny but significant genetic difference near the sex-determining gene SOX9, located on chromosome 3 of the spiny rat.

**Discovery of SOX9 Activation:**

This difference consists of a small duplication (17,000 base pairs out of over 3 billion) present in all males but absent in females. This duplicated DNA appears to contain a regulatory switch that normally activates SOX9 in response to SRY. Experiments introducing this duplication into mice showed an enhancement of SOX9 activity, suggesting that this genetic change might enable SOX9 to function independently of SRY.

**Implications and Future Research:**

These findings propose that an alternative sex-determining mechanism could evolve in response to the loss of the Y chromosome. While this discovery offers valuable insights into evolutionary processes and potential future scenarios for human evolution, it also presents challenges and risks. The study underscores the adaptability of genetic systems and provides a foundation for further research into the evolution of sex determination.

 

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