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

David Kipling, Eduardo C. Salido, Larry J. Shapiro, Howard J. Cooke

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    23 Scopus citations

    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: DXYHgu1, 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 Pac1 restriction fragments, up to 2 Mb in size, are unstable in C57BL/6 x C57BL/6 crosses. New alleles, often several hundred kilobases different in size, occur at a sex-averaged rate of ~30% per allele. Such frequent large-scale germline genome rearrangements are without precedent in mammals.

    Original languageEnglish
    Pages (from-to)78-82
    Number of pages5
    JournalNature Genetics
    Volume13
    Issue number1
    DOIs
    StatePublished - May 1 1996

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