Abstract
The androgen receptor is a member of the nuclear receptor superfamily, and regulates gene expression in response to the steroid hormones testosterone and dihydrotestosterone. Mutations in the receptor have been correlated with a diverse range of clinical conditions, including androgen insensitivity, prostate cancer and spinal bulbar muscular atrophy, a neuromuscular degenerative condition. The latter is caused by expansion of a pol?;glutamine repeat within the N-terminal domain of the receptor. Thus the androgen receptor is one of a growing number of neurodegenerative disease-associated proteins, including huntingtin (Huntington's disease), ataxin-1 (spinocerebellar ataxia, type I)and ataxin-3 (spinocerebellar ataxia, type 3), which show expansion of CAG triplet repeats. Although widely studied, the functions of huntingtin, ataxin-1 and ataxin-3 remain unknown. The androgen receptor, which has a well-recognized function in gene regulation, provides a unique opportunity to investigate the functional significance of poly(amino acid) repeats in normal and disease states.
Original language | English |
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Pages (from-to) | 222-227 |
Number of pages | 5 |
Journal | Biochemical Society Transactions |
Volume | 29 |
Issue number | Pt 2 |
DOIs | |
Publication status | Published - 2001 |
Keywords
- aggregation
- androgen action
- gene regulation
- protein conformation
- polyglutamine repeat
- N-TERMINAL DOMAIN
- POLYGLUTAMINE TRACT
- AGGREGATE FORMATION
- PROSTATE-CANCER
- TRANSCRIPTIONAL ACTIVATION
- TRANSACTIVATION FUNCTION
- EXPANDED POLYGLUTAMINE
- TRINUCLEOTIDE REPEATS
- KENNEDYS-DISEASE
- MALE-INFERTILITY