Hallast Pille, Jobling Mark A
Institute of Molecular and Cell Biology, University of Tartu, Tartu, 51010, Estonia.
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Hum Genet. 2017 May;136(5):511-528. doi: 10.1007/s00439-017-1769-8. Epub 2017 Mar 6.
The great apes (orangutans, gorillas, chimpanzees, bonobos and humans) descended from a common ancestor around 13 million years ago, and since then their sex chromosomes have followed very different evolutionary paths. While great-ape X chromosomes are highly conserved, their Y chromosomes, reflecting the general lability and degeneration of this male-specific part of the genome since its early mammalian origin, have evolved rapidly both between and within species. Understanding great-ape Y chromosome structure, gene content and diversity would provide a valuable evolutionary context for the human Y, and would also illuminate sex-biased behaviours, and the effects of the evolutionary pressures exerted by different mating strategies on this male-specific part of the genome. High-quality Y-chromosome sequences are available for human and chimpanzee (and low-quality for gorilla). The chromosomes differ in size, sequence organisation and content, and while retaining a relatively stable set of ancestral single-copy genes, show considerable variation in content and copy number of ampliconic multi-copy genes. Studies of Y-chromosome diversity in other great apes are relatively undeveloped compared to those in humans, but have nevertheless provided insights into speciation, dispersal, and mating patterns. Future studies, including data from larger sample sizes of wild-born and geographically well-defined individuals, and full Y-chromosome sequences from bonobos, gorillas and orangutans, promise to further our understanding of population histories, male-biased behaviours, mutation processes, and the functions of Y-chromosomal genes.
大约1300万年前,大型猿类(猩猩、大猩猩、黑猩猩、倭黑猩猩和人类)有着共同的祖先,从那时起,它们的性染色体就沿着截然不同的进化路径发展。虽然大型猿类的X染色体高度保守,但它们的Y染色体,反映出自早期哺乳动物起源以来基因组中这个雄性特异性部分的普遍不稳定性和退化,在物种间和物种内都迅速进化。了解大型猿类Y染色体的结构、基因组成和多样性,将为人类Y染色体提供一个有价值的进化背景,还将阐明性别偏向行为,以及不同交配策略对基因组中这个雄性特异性部分施加的进化压力的影响。人类和黑猩猩已有高质量的Y染色体序列(大猩猩的为低质量序列)。这些染色体在大小、序列组织和组成上存在差异,虽然保留了一组相对稳定的祖传单拷贝基因,但在扩增性多拷贝基因的组成和拷贝数上表现出相当大的变异。与人类相比,对其他大型猿类Y染色体多样性的研究相对较少,但尽管如此,这些研究为物种形成、扩散和交配模式提供了见解。未来的研究,包括来自更大样本量的野生出生且地理定位明确的个体的数据,以及倭黑猩猩、大猩猩和猩猩的完整Y染色体序列,有望进一步加深我们对种群历史、雄性偏向行为、突变过程以及Y染色体基因功能的理解。