A physical map of the human Y chromosome

Charles A. Tilford, Tomoko Kuroda-Kawaguchi, Helen Skaletsky, Steve Rozen, Laura G. Brown, Michael Rosenberg, John D. McPherson, Kristine Wylie, Mandeep Sekhon, Tamara A. Kucaba, Robert H. Waterston and David C. Page ()
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Charles A. Tilford: Massachusetts Institute of Technology
Tomoko Kuroda-Kawaguchi: Massachusetts Institute of Technology
Helen Skaletsky: Massachusetts Institute of Technology
Steve Rozen: Massachusetts Institute of Technology
Laura G. Brown: Massachusetts Institute of Technology
Michael Rosenberg: Massachusetts Institute of Technology
John D. McPherson: Genome Sequencing Center, Washington University School of Medicine
Kristine Wylie: Genome Sequencing Center, Washington University School of Medicine
Mandeep Sekhon: Genome Sequencing Center, Washington University School of Medicine
Tamara A. Kucaba: Genome Sequencing Center, Washington University School of Medicine
Robert H. Waterston: Genome Sequencing Center, Washington University School of Medicine
David C. Page: Massachusetts Institute of Technology

Nature, 2001, vol. 409, issue 6822, 943-945

Abstract: Abstract The non-recombining region of the human Y chromosome (NRY), which comprises 95% of the chromosome, does not undergo sexual recombination and is present only in males. An understanding of its biological functions has begun to emerge from DNA studies of individuals with partial Y chromosomes, coupled with molecular characterization of genes implicated in gonadal sex reversal, Turner syndrome, graft rejection and spermatogenic failure1,2. But mapping strategies applied successfully elsewhere in the genome have faltered in the NRY, where there is no meiotic recombination map and intrachromosomal repetitive sequences are abundant3. Here we report a high-resolution physical map of the euchromatic, centromeric and heterochromatic regions of the NRY and its construction by unusual methods, including genomic clone subtraction4 and dissection of sequence family variants5. Of the map's 758 DNA markers, 136 have multiple locations in the NRY, reflecting its unusually repetitive sequence composition. The markers anchor 1,038 bacterial artificial chromosome clones, 199 of which form a tiling path for sequencing.

Date: 2001
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DOI: 10.1038/35057170

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