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

Author

Listed:
  • 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)

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.

Suggested Citation

  • 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 &, 2003. "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes," Nature, Nature, vol. 423(6942), pages 825-837, June.
    • Handle: RePEc:nat:nature:v:423:y:2003:i:6942:d:10.1038_nature01722
    DOI: 10.1038/nature01722
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    Cited by:

    1. Lulu Xu & Yandong Ren & Jiahong Wu & Tingting Cui & Rong Dong & Chen Huang & Zhe Feng & Tianmin Zhang & Peng Yang & Jiaqing Yuan & Xiao Xu & Jiao Liu & Jinhong Wang & Wu Chen & Da Mi & David M. Irwin , 2024. "Evolution and expression patterns of the neo-sex chromosomes of the crested ibis," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
    2. Alexander S. F. Berry & Brenda M. Finucane & Scott M. Myers & Lauren K. Walsh & John M. Seibert & Christa Lese Martin & David H. Ledbetter & Matthew T. Oetjens, 2024. "A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk," Nature Communications, Nature, vol. 15(1), pages 1-11, December.

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