Non-inactivation of an X-chromosome locus in man

Larry J. Shapiro, Thuluvancheri Mohandas, Roberta Weiss, Giovanni Romeo

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    168 Scopus citations


    Cloned fibroblasts from women heterozygous for X-linked ichthyosis (steroid sulfatase deficiency) were examined to see whether or not this locus is subject to X-inactivation. Of 103 clones examined, all had normal levels of steroid sulfatase activity. Two of the women studied were also heterozygous for glucose-6-phosphate dehydrogenase deficiency. This allowed the demonstration that both X chromosomes were represented as the active X in various clones and that selection did not account for these findings. Thus, the steroid sulfatase locus, like the Xga locus to which it is linked, appears to escape X-inactivation in man.

    Original languageEnglish
    Pages (from-to)1224-1226
    Number of pages3
    Issue number4398
    StatePublished - 1979


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