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Research Article Free access | 10.1172/JCI116093

Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.

M J McPhaul, M Marcelli, S Zoppi, C M Wilson, J E Griffin, and J D Wilson

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8857.

Find articles by McPhaul, M. in: PubMed | Google Scholar

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8857.

Find articles by Marcelli, M. in: PubMed | Google Scholar

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8857.

Find articles by Zoppi, S. in: PubMed | Google Scholar

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8857.

Find articles by Wilson, C. in: PubMed | Google Scholar

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8857.

Find articles by Griffin, J. in: PubMed | Google Scholar

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8857.

Find articles by Wilson, J. in: PubMed | Google Scholar

Published November 1, 1992 - More info

Published in Volume 90, Issue 5 on November 1, 1992
J Clin Invest. 1992;90(5):2097–2101. https://doi.org/10.1172/JCI116093.
© 1992 The American Society for Clinical Investigation
Published November 1, 1992 - Version history
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Abstract

We have analyzed the nucleotide sequence of the androgen receptor from 22 unrelated subjects with substitution mutations of the hormone-binding domain. Eleven had the phenotype of complete testicular feminization, four had incomplete testicular feminization, and seven had Reifenstein syndrome. The underlying functional defect in cultured skin fibroblasts included individuals with absent, qualitative, or quantitative defects in ligand binding. 19 of the 21 substitution mutations (90%) cluster in two regions that account for approximately 35% of the hormone-binding domain, namely, between amino acids 726 and 772 and between amino acids 826 and 864. The fact that one of these regions is homologous to a region of the human thyroid hormone receptor (hTR-beta) which is a known cluster site for mutations that cause thyroid hormone resistance implies that this localization of mutations is not a coincidence. These regions of the androgen receptor may be of particular importance for the formation and function of the hormone-receptor complex.

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