A CAG/CTG expansion in the normal population

被引:54
作者
Nakamoto, M
Takebayashi, H
Kawaguchi, Y
Narumiya, S
Taniwaki, M
Nakamura, Y
Ishikawa, Y
Akiguchi, I
Kimura, J
Kakizuka, A
机构
[1] OSAKA BIOSCI INST,DEPT 4,SUITA,OSAKA 565,JAPAN
[2] KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN
[3] KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN
[4] KYOTO PREFECTURAL UNIV MED,DEPT INTERNAL MED 3,KYOTO 602,JAPAN
[5] UNIV TOKYO,INST MED SCI,MOL MED LAB,MINATO KU,TOKYO 108,JAPAN
[6] KYOTO MUNICIPAL HOSP,DEPT NEUROL,KYOTO 604,JAPAN
[7] KYOTO UNIV,FAC MED,DEPT NEUROL,KYOTO 60601,JAPAN
关键词
D O I
10.1038/ng1297-385
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:385 / 386
页数:2
相关论文
共 17 条
[1]   IDENTIFICATION AND CHARACTERIZATION OF THE GENE CAUSING TYPE-1 SPINOCEREBELLAR ATAXIA [J].
BANFI, S ;
SERVADIO, A ;
CHUNG, MY ;
KWIATKOWSKI, TJ ;
MCCALL, AE ;
DUVICK, LA ;
SHEN, Y ;
ROTH, EJ ;
ORR, HT ;
ZOGHBI, HY .
NATURE GENETICS, 1994, 7 (04) :513-520
[2]   Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion [J].
David, G ;
Abbas, N ;
Stevanin, G ;
Durr, A ;
Yvert, G ;
Cancel, G ;
Weber, C ;
Imbert, G ;
Saudou, F ;
Antoniou, E ;
Drabkin, H ;
Gemmill, R ;
Giunti, P ;
Benomar, A ;
Wood, N ;
Ruberg, M ;
Agid, Y ;
Mandel, JL ;
Brice, A .
NATURE GENETICS, 1997, 17 (01) :65-70
[3]   Development of a screening set for New (CAG/CTG)(n) dynamic mutations [J].
Gastier, JM ;
Brody, T ;
Pulido, JC ;
Businga, T ;
Sunden, S ;
Hu, XT ;
Maitra, S ;
Buetow, KH ;
Murray, JC ;
Sheffield, VC ;
Boguski, M ;
Duyk, GM ;
Hudson, TJ .
GENOMICS, 1996, 32 (01) :75-85
[4]   Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo [J].
Ikeda, H ;
Yamaguchi, M ;
Sugai, S ;
Aze, Y ;
Narumiya, S ;
Kakizuka, A .
NATURE GENETICS, 1996, 13 (02) :196-202
[5]   Degenerative ataxias: Genetics, pathogenesis and animal models [J].
Kakizuka, A .
CURRENT OPINION IN NEUROLOGY, 1997, 10 (04) :285-290
[6]   Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice [J].
Mangiarini, L ;
Sathasivam, K ;
Seller, M ;
Cozens, B ;
Harper, A ;
Hetherington, C ;
Lawton, M ;
Trottier, Y ;
Lehrach, H ;
Davies, SW ;
Bates, GP .
CELL, 1996, 87 (03) :493-506
[7]  
McInnis MG, 1996, AM J HUM GENET, V59, P973
[8]   CAG REPEAT EXPANSIONS AND SCHIZOPHRENIA - ASSOCIATION WITH DISEASE IN FEMALES AND WITH EARLY AGE-AT-ONSET [J].
MORRIS, AG ;
GAITONDE, E ;
MCKENNA, PJ ;
MOLLON, JD ;
HUNT, DM .
HUMAN MOLECULAR GENETICS, 1995, 4 (10) :1957-1961
[9]   STRUCTURE AND EXPRESSION OF THE GENE RESPONSIBLE FOR THE TRIPLET REPEAT DISORDER, DENTATORUBRAL AND PALLIDOLUYSIAN ATROPHY (DRPLA) [J].
NAGAFUCHI, S ;
YANAGISAWA, H ;
OHSAKI, E ;
SHIRAYAMA, T ;
TADOKORO, K ;
INOUE, T ;
YAMADA, M .
NATURE GENETICS, 1994, 8 (02) :177-182
[10]  
NAKAMOTO M, GENETIC INSTABILITIE