X/Y translocations resulting from recombination between homologous sequences on Xp and Yq

P. H. Yen, S. P. Tsai, S. L. Wenger, M. W. Steele, T. K. Mohandas, L. J. Shapiro

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    64 Scopus citations

    Abstract

    Several regions of sequence homology between the human X and Y chromosomes have been identified. These segments are thought to represent areas of these chromosomes that have engaged in meiotic recombination in relatively recent evolutionary times. Normally, the X and Y chromosomes pair during meiosis and exchange DNA only within the pseudoautosomal region at the distal short arms of both chromosomes. However, it has been suggested that aberrant recombination involving other segments of high homology could be responsible for the production of X/Y translocations. We have studied four X/Y translocation patients using molecular probes detecting homologous sequences on X and Y chromosomes. In one translocation the breakpoints have been isolated and sequenced. The mapping data are consistent with the hypothesis that X/Y translocations arise by homologous recombination. The sequencing data from one translocation demonstrate this directly.

    Original languageEnglish
    Pages (from-to)8944-8948
    Number of pages5
    JournalProceedings of the National Academy of Sciences of the United States of America
    Volume88
    Issue number20
    DOIs
    StatePublished - Jan 1 1991

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