The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
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DOI：
10.1038/nature01722
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发表时间：
2003-06-19
期刊：
影响因子：
64.8
通讯作者：
Page, DC
中科院分区：
文献类型：
--
作者：
Skaletsky, H;Kuroda-Kawaguchi, T;Page, DC
Y染色体的男性特异性区域MSY区分性别，占染色体长度的95%。在这里，我们报告的MSY是一个马赛克的异染色质序列和三个类的常染色质序列：X-转置，X-简并和扩增。这些类别包含所有156个已知的转录单位，其中包括78个蛋白质编码基因，共同编码27种不同的蛋白质。X转座序列与X染色体具有99%的同一性。X-简并序列是古代常染色体的残留物，现代X和Y染色体从这些常染色体进化而来。扩增子类包括大区域（约30%的MSY常染色质），其中序列对显示大于99.9%的同一性，这是通过频繁的基因转换（非相互转移）来维持的。这里最突出的特征是八个巨大的回文，其中至少有六个含有睾丸基因。
The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length. Here, we report that the MSY is a mosaic of heterochromatic sequences and three classes of euchromatic sequences: X-transposed, X-degenerate and ampliconic. These classes contain all 156 known transcription units, which include 78 protein-coding genes that collectively encode 27 distinct proteins. The X-transposed sequences exhibit 99% identity to the X chromosome. The X-degenerate sequences are remnants of ancient autosomes from which the modern X and Y chromosomes evolved. The ampliconic class includes large regions (about 30% of the MSY euchromatin) where sequence pairs show greater than 99.9% identity, which is maintained by frequent gene conversion (non-reciprocal transfer). The most prominent features here are eight massive palindromes, at least six of which contain testis genes.