Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

Pauline H. Yen, Xiao Miao Li, Siao Ping Tsai, Carey Johnson, T. Mohandas, Larry J. Shapiro

    Research output: Contribution to journalArticlepeer-review

    146 Scopus citations

    Abstract

    Substantial DNA deletions appear to be the molecular basis of several human genetic disorders but rarely account for the majority of observed mutations at any given locus. Exceptions in which deletions do account for the majority of observed abnormalities include the α-thalassemias, Duchenne muscular dystrophy, and steroid sulfatase deficiency. Variable deletion breakpoints have been recognized at the α-globin and dystrophin loci, but no information is available regarding STS deletions. We have found that these STS alterations usually involve breakpoints within highly similar sequence elements situated approximately 1.9 megabases apart on the X chromosome. It is surprising that these very large deletions produce such mild clinical abnormalities. These results may provide insight into the molecular mechanism of a number of human genetic defects.

    Original languageEnglish
    Pages (from-to)603-610
    Number of pages8
    JournalCell
    Volume61
    Issue number4
    DOIs
    StatePublished - May 18 1990

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