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

Helen Skaletsky, Tomoko Kuroda-Kawaguchl, Patrick J. Minx, Holland S. Cordum, La Deana Hlllier, Laura G. Brown, Sjoerd Repplng, Tatyana Pyntikova, Johar All, Tamberlyn Blerl, Asif Chinwalla, Andrew Delehaunty, Hui Du, Glnger Fewell, Lucinda Fulton, Robert Fulton, Tina Graves, Shun Fang Hou, Phllip Latrielle, Shawn LeonardElaine Mardis, Rachel Maupin, John Douglas Mcpherson, Tracie Miner, Wllliam Nash, Christine Nguyen, Philip Ozersky, Kymberlle Pepin, Susan Rock, Tracy Rohlfing, Kelsi Scott, Brian Schultz, Cindy Strong, Aye Tin-Wollam, Shlaw Pyng Yang, Robert H. Waterston, Richard K. Wllson, Steve Rozen, David C. Page

Research output: Contribution to journalArticle

1402 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)825-837
Number of pages13
JournalNature
Volume423
Issue number6942
DOIs
StatePublished - Jun 19 2003
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)
  • General

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    Skaletsky, H., Kuroda-Kawaguchl, T., Minx, P. J., Cordum, H. S., Hlllier, L. D., Brown, L. G., Repplng, S., Pyntikova, T., All, J., Blerl, T., Chinwalla, A., Delehaunty, A., Du, H., Fewell, G., Fulton, L., Fulton, R., Graves, T., Hou, S. F., Latrielle, P., ... Page, D. C. (2003). The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature, 423(6942), 825-837. https://doi.org/10.1038/nature01722