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High frequency de novo alterations in the long–range genomic structure of the mouse pseudoautosomal region

Nature Genetics volume 13, pages 78–82 (1996)Cite this article

Abstract

The pseudoautosomal region (PAR) is a segment of shared homology between the X and Y chromosomes. Here we report physical linkage of three mouse PAR probes: DXYHgul, DXYMov15 and (TTAGGG)n. Steroid sulphatase (Sts) maps distal to these three probes, indicating that there is an internal array of the telomere sequence (TTAGGG)n in the PAR. Pseudoautosomal Pacl restriction fragments, up to 2 Mb in size, are unstable in C57BL/6 × C57BL76 crosses. New alleles, often several hundred kilobases different in size, occur at a sex–averaged rate of ∼30% per allele. Such frequent large–scale germ–line genome rearrangements are without precedent in mammals.

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Authors and Affiliations

  1. MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH42XU, UK

    David Kipling & Howard J. Cooke

  2. Department of Pediatrics, UCSF School of Medicine, San Francisco, California, 94143, USA

    Eduardo C. Salido & Larry J. Shapiro

  3. Department of Pathology, Universidad La Laguna, E-38071, Tenerife, Spain

    Eduardo C. Salido

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  1. David Kipling
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  2. Eduardo C. Salido
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  4. Howard J. Cooke
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Correspondence to David Kipling.

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Kipling, D., Salido, E., Shapiro, L. et al. High frequency de novo alterations in the long–range genomic structure of the mouse pseudoautosomal region. Nat Genet 13, 78–82 (1996). https://doi.org/10.1038/ng0596-78

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