The evolution of the mammalian Y chromosome

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  • Kuroiwa Asato
    Laboratory of Animal Cytogenetics, Faculty of Science, Hokkaido University

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The mammalian X and Y chromosomes were originally a homologous chromosome pair. The accumulation of deleterious mutations and subsequent inactivation and loss of Y-linked genes led to the genetic degeneration of the Y chromosome over evolutionary time, approximately 300 million years (Myr). In modern humans, only around 45 Y-linked genes remain. Most of the remaining Y-linked genes have acquired functions essential for males, e.g., sex determination or spermatogenesis. Because of the active role the Y chromosome plays in male function, it has been proposed that the loss of human Y-linked genes is inexorable and may lead to the extinction of the entire species. A contrary opinion suggests that the remaining Y-linked genes are strictly conserved through purifying selection. Recent comparative genomic analyses of the Y chromosome sequences of three primates (human, chimpanzee, and rhesus macaque) revealed high conservation of human Y-linked genes, at least over the past 25 Myr. In rodents, however, there are species in which Y-loss has actually occurred. Two species of Ryukyu spiny rats and one species of mole vole have XO/XO sex chromosome constitutions because they lack Y chromosomes altogether. Furthermore, the mammalian sex-determining gene, SRY, was also lost upon disappearance of the Y chromosome in these species. These XO species reveal that Y-loss in humans would not necessarily lead to the extinction of men, and that there are several possible trajectories for the future evolution of the Y.

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  • Chromosome Science

    Chromosome Science 15 (3+4), 61-69, 2012

    一般社団法人 染色体学会

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