Skaletsky Helen, Kuroda-Kawaguchi Tomoko, Minx Patrick J, Cordum Holland S, Hillier LaDeana, Brown Laura G, Repping Sjoerd, Pyntikova Tatyana, Ali Johar, Bieri Tamberlyn, Chinwalla Asif, Delehaunty Andrew, Delehaunty Kim, Du Hui, Fewell Ginger, Fulton Lucinda, Fulton Robert, Graves Tina, Hou Shun-Fang, Latrielle Philip, Leonard Shawn, Mardis Elaine, Maupin Rachel, McPherson John, Miner Tracie, Nash William, Nguyen Christine, Ozersky Philip, Pepin Kymberlie, Rock Susan, Rohlfing Tracy, Scott Kelsi, Schultz Brian, Strong Cindy, Tin-Wollam Aye, Yang Shiaw-Pyng, Waterston Robert H, Wilson Richard K, Rozen Steve, Page David C
Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA.
Nature. 2003 Jun 19;423(6942):825-37. doi: 10.1038/nature01722.
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.
Y染色体的男性特异区域（MSY）决定了性别差异，其长度占Y染色体全长的95%。我们在此报告，MSY是由异染色质序列和三类常染色质序列组成的嵌合体：X易位序列、X退化序列和扩增子序列。这些类别包含了所有156个已知的转录单元，其中包括78个蛋白质编码基因，这些基因共同编码27种不同的蛋白质。X易位序列与X染色体有99%的同源性。X退化序列是现代X和Y染色体演化而来的古代常染色体的残余部分。扩增子序列类别包括大片区域（约占MSY常染色质的30%），其中序列对的同源性大于99.9%，这种同源性通过频繁的基因转换（非相互转移）得以维持。这里最显著的特征是八个巨大的回文序列，其中至少六个包含睾丸基因。
