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Proc Natl Acad Sci U S A. 1975 April; 72(4): 1469–1472. | PMCID: PMC432557 |
Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity. W J Meyer, 3rd, B R Migeon, and C J Migeon 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. Full text Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (791K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References. Images in this article Click on the image to see a larger version. These references are in PubMed. This may not be the complete list of references from this article. - Keenan BS, Meyer WJ, 3rd, Hadjian AJ, Jones HW, Migeon CJ. Syndrome of androgen insensitivity in man: absence of 5 alpha-dihydrotestosterone binding protein in skin fibroblasts. J Clin Endocrinol Metab. 1974 Jun;38(6):1143–1146. [PubMed]
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