This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this book Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by McPhaul, M. J. Search for Related Content PubMed PubMed Citation Articles by McPhaul, M. J.

Molecular Defects of the Androgen Receptor

Department of Internal Medicine, Division of Endocrinology and Metabolism, The University of Texas Southwestern Medical School, Dallas, Texas 75390-8857

Mutations in the androgen receptor (AR) gene cause a range of phenotypic abnormalities of male sexual development. At one end of the spectrum are individuals with complete androgen insensitivity (complete testicular feminization) who exhibit normal breast development and female external genitalia. At the other extreme are individuals with male phenotypes that are characterized by either subtle undervirilization or infertility. Studies in a number of different laboratories have identified mutations of the AR gene in subjects with androgen resistance syndromes. Defects that interrupt the AR open-reading frame have been traced to a number of distinct types of genetic alterations, have been identified in widely separated segments of the AR gene, and are invariably associated with the phenotype of complete androgen insensitivity. By contrast, mutations that cause single amino acid substitutions within the AR are localized to the DNA- or ligand-binding domains of the receptor protein and have been associated with the full range of androgen-resistant phenotypes. Regardless of the nature of the mutation, functional studies and assays of AR abundance suggest that the phenotypic abnormalities that result from mutation of the AR are the result of the impairment of receptor function, decreases in receptor concentration, or both.

This article has been cited by other articles:

				J. Cheung-Flynn, V. Prapapanich, M. B. Cox, D. L. Riggs, C. Suarez-Quian, and D. F. Smith Physiological Role for the Cochaperone FKBP52 in Androgen Receptor Signaling Mol. Endocrinol., June 1, 2005; 19(6): 1654 - 1666. [Abstract] [Full Text] [PDF]