title: Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.
abstract: We have isolated several cDNA clones from a lambda gt11 expression library by screening with antibodies prepared against the microsomal enzyme steroid sulfatase, which is deficient in classical X-chromosome-linked ichthyosis patients. One of these clones (p422) has been assigned by mapping with a somatic cell hybrid panel and by in situ hybridization to Xp22.3. Clone p422 therefore has a coincident localization with the previously identified locus for steroid sulfatase expression in the region of the X chromosome escaping from inactivation. Twelve steroid sulfatase-deficient patients, including eight cases of classical ichthyosis, were found to be deleted for genomic sequences detected by the clone.
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004274:DNA, Recombinant; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000172:deficiency / Q000235:genetics*; D014960:X Chromosome / Q000648:ultrastructure*
chemical_list: D004274:DNA, Recombinant; D004247:DNA; D013429:Sulfatases; D043266:Steryl-Sulfatase