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. 1975 Apr;72(4):1469–1472. doi: 10.1073/pnas.72.4.1469

Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity.

W J Meyer 3rd, B R Migeon, C J Migeon
PMCID: PMC432557  PMID: 165510

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.

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Selected References

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