Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (35)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Tanaka, F.
Right arrow Articles by Sobue, G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Tanaka, F.
Right arrow Articles by Sobue, G.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 5, 1253-1257, Copyright © 1996 by Oxford University Press

ARTICLES

Founder effect in spinal and bulbar muscular atrophy (SBMA)

F Tanaka, M Doyu, Y Ito, M Matsumoto, T Mitsuma, K Abe, M Aoki, Y Itoyama, KH Fischbeck and G Sobue
Department of Neurology, Nagoya University School of Medicine, Japan.

We analyzed the polymorphic (CAG)n and (GGC)n repeats of the androgen receptor gene in 113 unrelated X-linked spinal and bulbar muscular atrophy (SBMA) X chromosomes and 173 control X chromosomes in Japanese males. The control chromosomes had an average CAG repeat number of 21 +/- 3 with a range from 14-32 repeat units, and SBMA chromosomes had a range from 40-55 with a median of 47 +/- 3 copies. The control chromosomes had seven different alleles of the (GGC)n repeat with the range of 11 to 17; the most frequent size of (GGC)n was 16 (79%), while (GGC)17 was very rare (1%). However, in SBMA chromosomes only two alleles were seen; the most frequent size of (GGC)n was 16 (61%) followed by 17 (39%). (GGC)n size distribution was significantly different between SBMA and control chromosomes (P < 0.0001), indicating the presence of linkage disequilibrium. There was no allelic association between the (CAG)n and (GGC)n microsatellites among control subjects as well as SBMA patients, which suggests that a founder effect makes a more significant contribution to generation of Japanese SBMA chromosomes than new mutations.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 BrainHome page
L. E. Rhodes, B. K. Freeman, S. Auh, A. D. Kokkinis, A. La Pean, C. Chen, T. J. Lehky, J. A. Shrader, E. W. Levy, M. Harris-Love, et al.
Clinical features of spinal and bulbar muscular atrophy
Brain, October 21, 2009; (2009) awp258v1.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
K. Tokui, H. Adachi, M. Waza, M. Katsuno, M. Minamiyama, H. Doi, K. Tanaka, J. Hamazaki, S. Murata, F. Tanaka, et al.
17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse
Hum. Mol. Genet., March 1, 2009; 18(5): 898 - 910.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
N. Preisler, G. Andersen, F. Thogersen, C. Crone, T. D. Jeppesen, F. Wibrand, and J. Vissing
Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease)
Neurology, January 27, 2009; 72(4): 317 - 323.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
K. Suzuki, M. Katsuno, H. Banno, Y. Takeuchi, N. Atsuta, M. Ito, H. Watanabe, F. Yamashita, N. Hori, T. Nakamura, et al.
CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA
Brain, January 1, 2008; 131(1): 229 - 239.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
H. Adachi, M. Waza, K. Tokui, M. Katsuno, M. Minamiyama, F. Tanaka, M. Doyu, and G. Sobue
CHIP Overexpression Reduces Mutant Androgen Receptor Protein and Ameliorates Phenotypes of the Spinal and Bulbar Muscular Atrophy Transgenic Mouse Model
J. Neurosci., May 9, 2007; 27(19): 5115 - 5126.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
H. Adachi, M. Katsuno, M. Minamiyama, M. Waza, C. Sang, Y. Nakagomi, Y. Kobayashi, F. Tanaka, M. Doyu, A. Inukai, et al.
Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients
Brain, March 1, 2005; 128(3): 659 - 670.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. Minamiyama, M. Katsuno, H. Adachi, M. Waza, C. Sang, Y. Kobayashi, F. Tanaka, M. Doyu, A. Inukai, and G. Sobue
Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy
Hum. Mol. Genet., June 1, 2004; 13(11): 1183 - 1192.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
H. Adachi, M. Katsuno, M. Minamiyama, C. Sang, G. Pagoulatos, C. Angelidis, M. Kusakabe, A. Yoshiki, Y. Kobayashi, M. Doyu, et al.
Heat Shock Protein 70 Chaperone Overexpression Ameliorates Phenotypes of the Spinal and Bulbar Muscular Atrophy Transgenic Mouse Model by Reducing Nuclear-Localized Mutant Androgen Receptor Protein
J. Neurosci., March 15, 2003; 23(6): 2203 - 2211.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
R. I. Richards
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
Hum. Mol. Genet., October 1, 2001; 10(20): 2187 - 2194.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Pathol.Home page
M. Li, Y. Nakagomi, Y. Kobayashi, D. E. Merry, F. Tanaka, M. Doyu, T. Mitsuma, Y. Hashizume, K. H. Fischbeck, and G. Sobue
Nonneural Nuclear Inclusions of Androgen Receptor Protein in Spinal and Bulbar Muscular Atrophy
Am. J. Pathol., September 1, 1998; 153(3): 695 - 701.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
A. Di Rienzo, P. Donnelly, C. Toomajian, B. Sisk, A. Hill, M. L. Petzl-Erler, G. K. Haines, and D. H. Barch
Heterogeneity of Microsatellite Mutations Within and Between Loci, and Implications for Human Demographic Histories
Genetics, March 1, 1998; 148(3): 1269 - 1284.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.