Non-inactivation of an x-chromosome locus in man

Science. 1979 Jun 15;204(4398):1224-6. doi: 10.1126/science.156396.

Abstract

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Dehydroepiandrosterone
  • Female
  • Genetic Linkage
  • Humans
  • Ichthyosis / genetics*
  • Pedigree
  • Sex Chromosomes / physiology*
  • Sulfatases / deficiency*
  • Sulfatases / genetics
  • X Chromosome / physiology*

Substances

  • Dehydroepiandrosterone
  • Sulfatases