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Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathies
Abstract
We have reported that polyglutamine (polyGln)-expanded human androgen receptors (hAR) have reduced transactivational competence in transfected cells. We presumed that maximal hAR transactivation requires a normal-size polyGln tract. Here we report, however, that hAR transactivity and polyGln-tract length are related inversely: n = 0 > 12 > 20 > 40 > 50. Thus, a normal-size polyGln tract represses the transactivational competence of a polyGln-free hAR, and polyGln expansion increases that negative effect. This observation has pathogenetic implications for X-linked spinobular muscular atrophy (Kennedy syndrome), and possibly for the autosomal dominant central neuronopathies associated with (CAG)n expansion in the translated portion of four different genes.
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Citations
Cited by
Androgen Receptor in Prostate Cancer
Heinlein, C. A., & Chang, C. (2004) · Endocrine Reviews · doi:10.1210/er.2002-0032 · Cited by 1,780
The Decline of Androgen Levels in Elderly Men and Its Clinical and Therapeutic Implications
Kaufman, J. M., & Vermeulen, A. (2005) · Endocrine Reviews · doi:10.1210/er.2004-0013 · Cited by 1,079
Androgen Receptor (AR) Coregulators: An Overview
Heinlein, C. A., & Chang, C. (2002) · Endocrine Reviews · doi:10.1210/edrv.23.2.0460 · Cited by 943
The CAG repeat within the androgen receptor gene and its relationship to prostate cancer
Giovannucci, E., Stampfer, M. J., Krithivas, K., Brown, M., Brufsky, A., Talcott, J., Hennekens, C. H., & Kantoff, P. W. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.7.3320 · Cited by 873
Tut, T. G., Ghadessy, F. J., Trifiro, M. A., Pinsky, L., & Yong, E. L. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.11.4385 · Cited by 512
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Metadata
- Authors
- Kazemi-Esfarjani, P., Trifiro, M. A., & Pinsky, L.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1995
- Volume
- 4
- Issue
- 4
- Pages
- 523-527
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W1998476721
- Cited by
- 443
- References
- 0
- FWCI
- 4.57
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathies. https://app.cochat.ai/papers/10.1093/hmg/4.4.523
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- Kazemi-Esfarjani, P., Trifiro, M. A., & Pinsky, L. (1995). Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathies. Human Molecular Genetics. https://doi.org/10.1093/hmg/4.4.523
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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