Genetic basis of endocrine disease 4: The spectrum of mutations in the androgen receptor gene that causes androgen resistance
- Univ. of Texas Southwestern Medical Center, Dallas (United States)
Mutations in the androgen receptor gene cause phenotypic abnormalities of male sexual development that range from a female phenotype (complete testicular feminization) to that of undervirilized or infertile men. Using the tools of molecular biology, the authors have analyzed androgen receptor gene mutations in 31 unrelated subjects with androgen resistance syndromes. Most of the defects are due to nucleotide changes that cause premature termination codons or single amino acid substitutions within the open reading frame encoding the androgen receptor, and the majority of these substitutions are localized in three regions of the androgen receptor: the DNA-binding domain and two segments of the androgen-binding domain. Less frequently, partial or complete gene deletions have been identified. Functional studies and immunoblot assays of the androgen receptors in patients with androgen resistance indicate that in most cases the phenotypic abnormalities are the result of impairment of receptor function or decreases in receptor abundance or both. 34 refs., 2 figs.
- OSTI ID:
- 6570596
- Journal Information:
- Journal of Clinical Endocrinology and Metabolism; (United States), Journal Name: Journal of Clinical Endocrinology and Metabolism; (United States) Vol. 76:1; ISSN JCEMAZ; ISSN 0021-972X
- Country of Publication:
- United States
- Language:
- English
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550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANDROGENS
ANDROSTANES
BODY
DISEASES
ENDOCRINE DISEASES
GENE MUTATIONS
HORMONES
MALE GENITALS
MALES
MALFORMATIONS
MEMBRANE PROTEINS
MUTATIONS
ORGANIC COMPOUNDS
ORGANS
PATHOLOGICAL CHANGES
PHENOTYPE
PROTEINS
RECEPTORS
STERILITY
STEROID HORMONES
STEROIDS