Machado-Joseph disease gene products carrying different carboxyl termini

被引：64

作者：

Goto, J

Watanabe, M

Ichikawa, Y

Yee, SB

Ihara, N

Endo, K

Igarashi, S

Takiyama, Y

Gaspar, C

Maciel, P

Tsuji, S

Rouleau, GA

Kanazawa, I

机构：

[1] UNIV TOKYO,GRAD SCH SCI,DEPT BIOL SCI,DIV ANTHROPOL,BUNKYO KU,TOKYO 113,JAPAN

[2] NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,NIIGATA 951,JAPAN

[3] JICHI MED SCH,DEPT NEUROL,MINAMI KAWACHI,TOCHIGI 32904,JAPAN

[4] MCGILL UNIV,MONTREAL GEN HOSP,DEPT NEUROL,RES INST,MONTREAL,PQ H3G 1A4,CANADA

[5] MCGILL UNIV,CTR RES NEUROSCI,MONTREAL,PQ H3G 1A4,CANADA

来源：

NEUROSCIENCE RESEARCH | 1997年 / 28卷 / 04期

基金：

日本科学技术振兴机构;

关键词：

Machado-Joseph disease; cDNA; stop codon; polymorphism; linkage disequilibrium; spinocerebellar ataxia;

D O I：

10.1016/S0168-0102(97)00056-4

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Three cDNA clones for the Machado-Joseph disease gene (MJD1) were isolated, two of which have a new exon sequence and a distinct 3' terminal nucleotide sequence resulting in a new carboxyl terminal domain in the translated product. The nucleotide sequence of the other one is similar to the previously published one except for five polymorphisms, one of which is a single nucleotide substitution resulting in a change from the stop codon (TAA; allele A) to a tyrosine residue (TAC; allele C). Genetic analysis results suggest that Japanese MJD mutations are associated with allele A. (C) 1997 Elsevier Science Ireland Ltd.

引用

页码：373 / 377

页数：5

共 12 条

[1]

Endo K, 1996, AM J MED GENET, V67, P437, DOI 10.1002/(SICI)1096-8628(19960920)67:5<437::AID-AJMG1>3.0.CO

[2]

2-H

[3] Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: Implications for the molecular mechanisms of the instability of the CAG repeat [J].

Igarashi, S ;

Takiyama, Y ;

Cancel, G ;

Rogaeva, EA ;

Sasaki, H ;

Wakisaka, A ;

Zhou, YX ;

Takano, H ;

Endo, K ;

Sanpei, K ;

Oyake, M ;

Tanaka, H ;

Stevanin, G ;

Abbas, N ;

Durr, A ;

Rogaev, EI ;

Sherrington, R ;

Tsuda, T ;

Ikeda, M ;

Cassa, E ;

Nishizawa, M ;

Benomar, A ;

Julien, J ;

Weissenbach, J ;

Wang, GX ;

Agid, Y ;

StGeorgeHyslop, PH ;

Brice, A ;

Tsuji, S .

HUMAN MOLECULAR GENETICS, 1996, 5 (07) :923-932

[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] CAG EXPANSIONS IN A NOVEL GENE FOR MACHADO-JOSEPH DISEASE AT CHROMOSOME 14Q32.1 [J].

KAWAGUCHI, Y ;

OKAMOTO, T ;

TANIWAKI, M ;

AIZAWA, M ;

INOUE, M ;

KATAYAMA, S ;

KAWAKAMI, H ;

NAKAMURA, S ;

NISHIMURA, M ;

AKIGUCHI, I ;

KIMURA, J ;

NARUMIYA, S ;

KAKIZUKA, A .

NATURE GENETICS, 1994, 8 (03) :221-228

[6]

MACIEL P, 1995, AM J HUM GENET, V57, P54

[7] A polymorphic stop codon in BRCA2 [J].

Mazoyer, S ;

Dunning, AM ;

Serova, O ;

Dearden, J ;

Puget, N ;

Healey, CS ;

Gayther, SA ;

Mangion, J ;

Stratton, MR ;

Lynch, HT ;

Goldgar, DE ;

Ponder, BAJ ;

Lenoir, GM .

NATURE GENETICS, 1996, 14 (03) :253-254

[8] MACHADO DISEASE - HEREDITARY ATAXIA IN PORTUGUESE EMIGRANTS TO MASSACHUSETTS [J].

NAKANO, KK ;

SPENCE, A ;

DAWSON, DM .

NEUROLOGY, 1972, 22 (01) :49-&

[9] AUTOSOMAL DOMINANT STRIATONIGRAL DEGENERATION - CLINICAL, PATHOLOGIC, AND BIOCHEMICAL STUDY OF A NEW GENETIC DISORDER [J].

ROSENBERG, RN ;

NYHAN, WL ;

BAY, C ;

SHORE, P .

NEUROLOGY, 1976, 26 (08) :703-714

[10]

STGEORGEHYSLOP P, 1994, AM J HUM GENET, V55, P120

← 1 2 →