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 polyglutamine 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 1) 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.
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Conference Article|
May 01 2001
Structural and functional alterations in the androgen receptor in spinal bulbar muscular atrophy
I. J. McEwan
I. J. McEwan
1
1Department of Molecular and Cell Biology, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, U.K.
1e-mail: iain.mcewan@abdn.ac.uk
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Publisher: Portland Press Ltd
Received:
December 21 2000
Online ISSN: 1470-8752
Print ISSN: 0300-5127
© 2001 Biochemical Society
2001
Biochem Soc Trans (2001) 29 (2): 222–227.
Article history
Received:
December 21 2000
Citation
I. J. McEwan; Structural and functional alterations in the androgen receptor in spinal bulbar muscular atrophy. Biochem Soc Trans 1 May 2001; 29 (2): 222–227. doi: https://doi.org/10.1042/bst0290222
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