0
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: not found
      • Article: not found

      X-linked ichthyosis: an update : X-LINKED ICHTHYOSIS: AN UPDATE

      , ,

      British Journal of Dermatology

      Wiley

      Read this article at

      ScienceOpenPublisher
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Related collections

          Most cited references 92

          • Record: found
          • Abstract: not found
          • Article: not found

          Gene action in the X-chromosome of the mouse (Mus musculus L.).

           MARY LYON (1961)
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution.

            The mammalian X and Y chromosomes are thought to have evolved from a common, nearly homologous chromosome pair. Although there is little sequence similarity between the mouse or the human X and Y, there are several regions in which moderate to extensive sequence homologies have been found, including, but not limited to, the so-called pseudoautosomal segment, in which X-Y pairing and recombination take place. The steroid sulfatase gene is in the pseudoautosomal region of the mouse, but not in man. We have cloned and characterized the human STS X-encoded locus and a pseudogene that is present on the long arm of the Y chromosome. Our data in humans and other primates suggest that there has been a pericentric inversion of the Y chromosome during primate evolution that has disrupted the former pseudoautosomal arrangement of these genes. These results provide additional insight into the evolution of the sex chromosomes and into the nature of this interesting portion of the human genome.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange.

              Human STS is a microsomal enzyme important in steroid metabolism. The gene encoding STS is pseudoautosomal in the mouse but not in humans, and escapes X inactivation in both species. We have prepared monoclonal and polyclonal antibodies to the protein which has been purified and from which partial amino acid sequence data have been obtained. cDNA clones containing the entire coding sequence were isolated, sequenced, and expressed in heterologous cells. Variable length transcripts have been shown to be present and due to usage of alternative poly(A) addition sites. The functional gene maps to Xp22.3-Xpter and there is a pseudogene on Yq suggesting a recent pericentric inversion. Absence of STS enzymatic activity occurs frequently in human populations and produces a visible phenotype of scaly skin or ichthyosis. Ten patients with inherited STS deficiency were studied and eight had complete gene deletions. The possibility that STS deficiency results from aberrant X-Y interchange is discussed.
                Bookmark

                Author and article information

                Journal
                British Journal of Dermatology
                British Journal of Dermatology
                Wiley
                00070963
                October 1999
                October 1999
                December 24 2001
                : 141
                : 4
                : 617-627
                Article
                10.1046/j.1365-2133.1999.03098.x
                © 2001

                Comments

                Comment on this article