University of Missouri-Kansas City School of Medicine, Department of Biomedical and Health Informatics, Kansas City, 64108, Missouri, USA.
Kansas State University College of Veterinary Medicine, Department of Diagnostic Medicine/Pathobiology, Olathe, 66061, Kansas, USA.
Sci Rep. 2020 Feb 7;10(1):2170. doi: 10.1038/s41598-020-58997-2.
The human X and Y chromosomes evolved from a pair of autosomes approximately 180 million years ago. Despite their shared evolutionary origin, extensive genetic decay has resulted in the human Y chromosome losing 97% of its ancestral genes while gene content and order remain highly conserved on the X chromosome. Five 'stratification' events, most likely inversions, reduced the Y chromosome's ability to recombine with the X chromosome across the majority of its length and subjected its genes to the erosive forces associated with reduced recombination. The remaining functional genes are ubiquitously expressed, functionally coherent, dosage-sensitive genes, or have evolved male-specific functionality. It is unknown, however, whether functional specialization is a degenerative phenomenon unique to sex chromosomes, or if it conveys a potential selective advantage aside from sexual antagonism. We examined the evolution of mammalian orthologs to determine if the selective forces that led to the degeneration of the Y chromosome are unique in the genome. The results of our study suggest these forces are not exclusive to the Y chromosome, and chromosomal degeneration may have occurred throughout our evolutionary history. The reduction of recombination could additionally result in rapid fixation through isolation of specialized functions resulting in a cost-benefit relationship during times of intense selective pressure.
人类的 X 和 Y 染色体大约在 1.8 亿年前从一对常染色体进化而来。尽管它们具有共同的进化起源,但广泛的遗传退化导致人类 Y 染色体失去了其祖先基因的 97%,而 X 染色体上的基因内容和顺序仍然高度保守。五次“分层”事件(很可能是倒位)降低了 Y 染色体与 X 染色体在其大部分长度上重组的能力,并使 Y 染色体上的基因受到与重组减少相关的侵蚀性力量的影响。剩下的功能基因是普遍表达的、功能上一致的、剂量敏感的基因,或者已经进化出了男性特有的功能。然而,目前还不清楚功能特化是性染色体特有的退化现象,还是除了性拮抗之外还具有潜在的选择优势。我们研究了哺乳动物直系同源基因的进化,以确定导致 Y 染色体退化的选择压力在基因组中是否是独特的。我们研究的结果表明,这些力量并不是 Y 染色体所特有的,染色体退化可能在我们的进化历史中一直发生。重组的减少还可能通过隔离专门的功能导致快速固定,从而在强烈选择压力的时期产生成本效益关系。