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Title: Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: Evidence for further genetic heterogeneity in this syndrome

Abstract

The cloning of a cDNA for the human androgen receptor gene has resulted in the availability for cDNA probes that span various parts of the gene, including the entire steroid-binding domain and part of the DNA-binding domain, as well as part of the 5' region of the gene. The radiolabeled probes were used to screen for androgen receptor mutations on Southern blots prepared by restriction endonuclease digestion of genomic DNA from human subjects with complete androgen insensitivity syndrome (AIS). In this investigation, the authors considered only patients presenting complete AIS and with the androgen receptor (-) form as the most probably subjects to show a gene deletion. One subject from each of six unrelated families with the receptor (-) form of complete AIS and 10 normal subjects were studied. In the 10 normal subjects and in 5 of the 6 patients, identical DNA restriction fragment patterns were observed with EcoRI and BamHI. Analysis of other members of this family confirmed the apparent gene deletion. The data provide direct proof that complete AIS in some families can result from a deletion of the androgen receptor structural gene. However, other families do not demonstrate such a deletion, suggesting that point mutations maymore » also result in the receptor (-) form of complete AIS, adding further to the genetic heterogeneity of this syndrome.« less

Authors:
; ; ; ; ;  [1]
  1. Johns Hopkins Univ. School of Medicine, Baltimore, MD (USA)
Publication Date:
OSTI Identifier:
5546694
Resource Type:
Journal Article
Journal Name:
Proceedings of the National Academy of Sciences of the United States of America; (USA)
Additional Journal Information:
Journal Volume: 85:21; Journal ID: ISSN 0027-8424
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; HEREDITARY DISEASES; ETIOLOGY; RECEPTORS; GENOME MUTATIONS; RECOMBINANT DNA; DNA-CLONING; ANDROGENS; CHROMOSOMAL ABERRATIONS; FIBROBLASTS; GENES; HYBRIDIZATION; LEUKOCYTES; PATIENTS; PHOSPHORUS 32; STEROIDS; X CHROMOSOME; ANDROSTANES; ANIMAL CELLS; BETA DECAY RADIOISOTOPES; BETA-MINUS DECAY RADIOISOTOPES; BIOLOGICAL MATERIALS; BLOOD; BLOOD CELLS; BODY FLUIDS; CHROMOSOMES; CLONING; CONNECTIVE TISSUE CELLS; DAYS LIVING RADIOISOTOPES; DISEASES; DNA; DNA HYBRIDIZATION; HETEROCHROMOSOMES; HORMONES; ISOTOPES; LIGHT NUCLEI; MATERIALS; MEMBRANE PROTEINS; MUTATIONS; NUCLEI; NUCLEIC ACIDS; ODD-ODD NUCLEI; ORGANIC COMPOUNDS; PHOSPHORUS ISOTOPES; PROTEINS; RADIOISOTOPES; SOMATIC CELLS; STEROID HORMONES; 550401* - Genetics- Tracer Techniques

Citation Formats

Brown, T R, Lubahn, D B, Wilson, E M, Joseph, D R, French, F S, and Migeon, C J. Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: Evidence for further genetic heterogeneity in this syndrome. United States: N. p., 1988. Web. doi:10.1073/pnas.85.21.8151.
Brown, T R, Lubahn, D B, Wilson, E M, Joseph, D R, French, F S, & Migeon, C J. Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: Evidence for further genetic heterogeneity in this syndrome. United States. https://doi.org/10.1073/pnas.85.21.8151
Brown, T R, Lubahn, D B, Wilson, E M, Joseph, D R, French, F S, and Migeon, C J. 1988. "Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: Evidence for further genetic heterogeneity in this syndrome". United States. https://doi.org/10.1073/pnas.85.21.8151.
@article{osti_5546694,
title = {Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: Evidence for further genetic heterogeneity in this syndrome},
author = {Brown, T R and Lubahn, D B and Wilson, E M and Joseph, D R and French, F S and Migeon, C J},
abstractNote = {The cloning of a cDNA for the human androgen receptor gene has resulted in the availability for cDNA probes that span various parts of the gene, including the entire steroid-binding domain and part of the DNA-binding domain, as well as part of the 5' region of the gene. The radiolabeled probes were used to screen for androgen receptor mutations on Southern blots prepared by restriction endonuclease digestion of genomic DNA from human subjects with complete androgen insensitivity syndrome (AIS). In this investigation, the authors considered only patients presenting complete AIS and with the androgen receptor (-) form as the most probably subjects to show a gene deletion. One subject from each of six unrelated families with the receptor (-) form of complete AIS and 10 normal subjects were studied. In the 10 normal subjects and in 5 of the 6 patients, identical DNA restriction fragment patterns were observed with EcoRI and BamHI. Analysis of other members of this family confirmed the apparent gene deletion. The data provide direct proof that complete AIS in some families can result from a deletion of the androgen receptor structural gene. However, other families do not demonstrate such a deletion, suggesting that point mutations may also result in the receptor (-) form of complete AIS, adding further to the genetic heterogeneity of this syndrome.},
doi = {10.1073/pnas.85.21.8151},
url = {https://www.osti.gov/biblio/5546694}, journal = {Proceedings of the National Academy of Sciences of the United States of America; (USA)},
issn = {0027-8424},
number = ,
volume = 85:21,
place = {United States},
year = {Tue Nov 01 00:00:00 EST 1988},
month = {Tue Nov 01 00:00:00 EST 1988}
}