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.
Dates
Type | When |
---|---|
Created | 19 years, 3 months ago (May 31, 2006, 3:05 a.m.) |
Deposited | 3 years, 4 months ago (April 13, 2022, 11:03 a.m.) |
Indexed | 4 months, 2 weeks ago (April 23, 2025, 8:27 a.m.) |
Issued | 50 years, 5 months ago (April 1, 1975) |
Published | 50 years, 5 months ago (April 1, 1975) |
Published Online | 50 years, 5 months ago (April 1, 1975) |
Published Print | 50 years, 5 months ago (April 1, 1975) |
@article{Meyer_1975, title={Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity.}, volume={72}, ISSN={1091-6490}, url={http://dx.doi.org/10.1073/pnas.72.4.1469}, DOI={10.1073/pnas.72.4.1469}, number={4}, journal={Proceedings of the National Academy of Sciences}, publisher={Proceedings of the National Academy of Sciences}, author={Meyer, W J and Migeon, B R and Migeon, C J}, year={1975}, month=apr, pages={1469–1472} }