title: Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity.
abstract: We have studied androgen binding characteristics of cells for androgen insensitivity from an obligate heterozygote, who is the mother of three male pseudohermaphrodites with dihydrotestosterone (17beta-hydroxy-5alpha-androstan-3-one) receptor deficiency. Specific dihydrotestosterone binding by skin fibroblasts from her wrist and pubis is within the normal range and indicates that androgen insensitivity is X-linked in man and is therefore homologous to the tfm locus in the mouse. A significant population of clones from the heterozygote has deficient receptor activity, and this finding is compatible with inactivation of one X-linked allele at this locus. Our results indicate the presence of a gene on the human X chromosome that is essential for normal male sexual differentiation and provide further evidence for homology between X chromosomes of all mammals.
mesh_terms: D001665:Binding Sites; D002478:Cells, Cultured; D002999:Clone Cells; D013196:Dihydrotestosterone / Q000378:metabolism*; D012734:Disorders of Sex Development / Q000235:genetics / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D007700:Kinetics; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011956:Receptors, Cell Surface; D012730:Sex Chromosomes / Q000378:metabolism*
chemical_list: D011956:Receptors, Cell Surface; D013196:Dihydrotestosterone