Structural and functional alterations in the androgen receptor in spinal bulbar muscular atrophy

Research output: Contribution to journalArticle

18 Citations (Scopus)

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 languageEnglish
Pages (from-to)222-227
Number of pages5
JournalBiochemical Society Transactions
Volume29
Issue numberPt 2
DOIs
Publication statusPublished - 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

Cite this

Structural and functional alterations in the androgen receptor in spinal bulbar muscular atrophy. / McEwan, Iain Joseph.

In: Biochemical Society Transactions, Vol. 29, No. Pt 2, 2001, p. 222-227.

Research output: Contribution to journalArticle

@article{785e04bd4cbf45e08403c43659bc5092,
title = "Structural and functional alterations in the androgen receptor in spinal bulbar muscular atrophy",
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.",
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",
author = "McEwan, {Iain Joseph}",
year = "2001",
doi = "10.1042/BST0290222",
language = "English",
volume = "29",
pages = "222--227",
journal = "Biochemical Society Transactions",
issn = "0300-5127",
publisher = "Portland Press Ltd.",
number = "Pt 2",

}

TY - JOUR

T1 - Structural and functional alterations in the androgen receptor in spinal bulbar muscular atrophy

AU - McEwan, Iain Joseph

PY - 2001

Y1 - 2001

N2 - 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.

AB - 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.

KW - aggregation

KW - androgen action

KW - gene regulation

KW - protein conformation

KW - polyglutamine repeat

KW - N-TERMINAL DOMAIN

KW - POLYGLUTAMINE TRACT

KW - AGGREGATE FORMATION

KW - PROSTATE-CANCER

KW - TRANSCRIPTIONAL ACTIVATION

KW - TRANSACTIVATION FUNCTION

KW - EXPANDED POLYGLUTAMINE

KW - TRINUCLEOTIDE REPEATS

KW - KENNEDYS-DISEASE

KW - MALE-INFERTILITY

U2 - 10.1042/BST0290222

DO - 10.1042/BST0290222

M3 - Article

VL - 29

SP - 222

EP - 227

JO - Biochemical Society Transactions

JF - Biochemical Society Transactions

SN - 0300-5127

IS - Pt 2

ER -