Androgen receptor mutation in Kennedy'sdisease-Reference-Cited by-同舟云学术

Androgen receptor mutation in Kennedy'sdisease

Published:1999-06-29 Issue:1386 Volume:354 Page:1075-1078
ISSN:0962-8436
Container-title:Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences
language:en
Short-container-title:Phil. Trans. R. Soc. Lond. B

Author:

Fischbeck Kenneth H.¹,Lieberman Andrew¹,Bailey Christine K.²,Abel Annette¹,Merry Diane E.²

Affiliation:

1. Neurogenetics Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD 20892, USA

2. Neurology Department, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA

Abstract

Kennedy'sdisease is an X–linked form of motor neuron disease caused by an expanded polyglutamine repeat in the androgen receptor. While the expansion mutation causes some loss of transcriptional activity by the androgen receptor, the predominant effect of expansion is probably a toxic gain of function, similar to the mechanism of other polyglutamine expansion diseases. Features of the neurodegenerative phenotype of Kennedy'sdisease have now been reproduced in transgenic animals and neuronal cell culture. Nuclear inclusions of mutant androgen receptor protein are found in these model systems and in autopsy samples from patients with Kennedy'sdisease.

Publisher

The Royal Society

Subject

General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology

Link

https://royalsocietypublishing.org/doi/pdf/10.1098/rstb.1999.0461

Reference26 articles.

1. Truncated androgen receptor gene with an expanded CAG repeat causes phenotypic changes in transgenic mice (abstract);Abel A.;Am. J. Hum. Genet.,1998

2. Bingham P. M. Scott M. O. Wang S. McPhaul M. J. Wilson E. M. Garbern J. Y. Merry D. E. & Fischbeck K. H. 1995 Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genet. 9 191^196.

3. Brooks B. P. Paulson H. L. Merry D. E. Salazar-Grueso E. F. Brinkmann A. O. Wilson E. M. & Fischbeck K. H. 1997 Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system. Neurobiol. Dis. 4 313^323.

4. A cell culture model for androgen e¡ects in motor neurons;Brooks B. P.;J. Neurochem.,1998

5. Choong C. S. Kemppainen J. A. Zhou Z. & Wilson E. M. 1996 Reduced androgen receptor gene expression with ¢rst exon CAG repeat expansion. Mol. Endocrinol. 10 1527^1535.

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