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

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

Nature, 2003, vol. 423, issue 6942, 825-837

Abstract: 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.

Date: 2003
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DOI: 10.1038/nature01722

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