The FASEB Journal, Vol 5, 2910-2915, Copyright © 1991 by The Federation of American Societies for Experimental Biology

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Androgen resistance caused by mutations in the androgen receptor gene

MJ McPhaul, M Marcelli, WD Tilley, JE Griffin and JD Wilson
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8857.

Defects in the human androgen receptor cause a spectrum of defects in male phenotypic sexual development associated with abnormalities in the receptor protein assayed in cultured fibroblasts and in broken cell assays. In some patients these abnormalities are associated with absent ligand binding, in other qualitative or quantitative abnormalities of ligand binding are present, and in some no abnormality of ligand binding is detected. Analysis of the androgen gene structure in such patients has permitted identification of the causative mutation in many families. Although results of these studies often reinforce concepts established by in vitro mutagenesis studies of other steroid receptors, some mutations have provided unusual insight into the structural organization of the androgen receptor molecule.

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