TY - JOUR
T1 - Androgen receptor dysfunction in human androgen insensitivity
AU - Brown, Terry R.
N1 - Funding Information:
The work performed in the author’s laboratory was supported by the National Institutes of Health (grants DK43147 and DKOO1 S O).
PY - 1995/7
Y1 - 1995/7
N2 - The androgen insensitivity syndromes comprise a spectrum of phenotypic abnormalities in male sex differentiation and development that result from target tissue resistance to androgen action due to molecular lesions in the X-chromosome-linked androgen receptor gene. The androgen receptor, like other members of the superfamily of steroid receptors, is characterized by the presence of three structural domains that function in transcriptional activation, DNA binding, and steroid binding, respectively. Missense mutations in the androgen receptor gene causing amino acid substitutions are the most common molecular lesions among affected subjects; deletions, mRNA splice site alterations, and nonsense mutations occur less frequently. Because of the large number and diverse array of these naturally occurring mutations and their associated clinical phenotypes, there is a great opportunity for understanding the structure-function relationships of the androgen receptor from in vitro and in vivo expression of the mutant receptors in various cell types.
AB - The androgen insensitivity syndromes comprise a spectrum of phenotypic abnormalities in male sex differentiation and development that result from target tissue resistance to androgen action due to molecular lesions in the X-chromosome-linked androgen receptor gene. The androgen receptor, like other members of the superfamily of steroid receptors, is characterized by the presence of three structural domains that function in transcriptional activation, DNA binding, and steroid binding, respectively. Missense mutations in the androgen receptor gene causing amino acid substitutions are the most common molecular lesions among affected subjects; deletions, mRNA splice site alterations, and nonsense mutations occur less frequently. Because of the large number and diverse array of these naturally occurring mutations and their associated clinical phenotypes, there is a great opportunity for understanding the structure-function relationships of the androgen receptor from in vitro and in vivo expression of the mutant receptors in various cell types.
UR - http://www.scopus.com/inward/record.url?scp=0029043120&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029043120&partnerID=8YFLogxK
U2 - 10.1016/1043-2760(95)00082-S
DO - 10.1016/1043-2760(95)00082-S
M3 - Review article
AN - SCOPUS:0029043120
SN - 1043-2760
VL - 6
SP - 170
EP - 175
JO - Trends in Endocrinology and Metabolism
JF - Trends in Endocrinology and Metabolism
IS - 5
ER -