The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes - PubMed (original) (raw)

. 2003 Jun 19;423(6942):825-37.

doi: 10.1038/nature01722.

Tomoko Kuroda-Kawaguchi, Patrick J Minx, Holland S Cordum, LaDeana Hillier, Laura G Brown, Sjoerd Repping, Tatyana Pyntikova, Johar Ali, Tamberlyn Bieri, Asif Chinwalla, Andrew Delehaunty, Kim Delehaunty, Hui Du, Ginger Fewell, Lucinda Fulton, Robert Fulton, Tina Graves, Shun-Fang Hou, Philip Latrielle, Shawn Leonard, Elaine Mardis, Rachel Maupin, John McPherson, Tracie Miner, William Nash, Christine Nguyen, Philip Ozersky, Kymberlie Pepin, Susan Rock, Tracy Rohlfing, Kelsi Scott, Brian Schultz, Cindy Strong, Aye Tin-Wollam, Shiaw-Pyng Yang, Robert H Waterston, Richard K Wilson, Steve Rozen, David C Page

Affiliations

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

Helen Skaletsky et al. Nature. 2003.

Abstract

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.

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