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

被引：1564

作者：

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

机构：

[1] KYOTO UNIV,FAC MED,DEPT PHARMACOL,KYOTO 60601,JAPAN

[2] KYOTO UNIV,FAC MED,DEPT NEUROL,KYOTO 60601,JAPAN

[3] KYOTO PREFECTURAL UNIV MED,DEPT INTERNAL MED 3,KYOTO 602,JAPAN

[4] HIROSHIMA UNIV,SCH MED,DEPT INTERNAL MED 3,HIROSHIMA 734,JAPAN

来源：

NATURE GENETICS | 1994年 / 8卷 / 03期

关键词：

D O I：

10.1038/ng1194-221

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease (MJD). In normal individuals the gene contains between 13 and 36 CAG repeats, whereas most of the clinically diagnosed patients and all of the affected members of a family with the clinical and pathological diagnosis of MJD show expansion of the repeat-number (from 68-79). Southern blot analyses and genomic cloning demonstrates the existence of related genes. These results raise the possibility that similar abnormalities in related genes may give rise to diseases similar to MJD.

引用

收藏

页码：221 / 228

页数：8

相关论文

共 39 条

[11] EXPANSION OF AN UNSTABLE DNA REGION AND PHENOTYPIC VARIATION IN MYOTONIC-DYSTROPHY [J].

HARLEY, HG ;

BROOK, JD ;

RUNDLE, SA ;

CROW, S ;

REARDON, W ;

BUCKLER, AJ ;

HARPER, PS ;

HOUSMAN, DE ;

SHAW, DJ .

NATURE, 1992, 355 (6360) :545-546

[12] PRESUMABLY AZOREAN DISEASE IN A PRESUMABLY NON-PORTUGUESE FAMILY [J].

HEALTON, EB ;

BRUST, JCM ;

KERR, DL ;

RESOR, S ;

PENN, A .

NEUROLOGY, 1980, 30 (10) :1084-1089

[13]

HYSLOP PS, 1994, AM J HUM GENET, V55, P120

[14] I-KAPPA-B-GAMMA, A 70 KD PROTEIN IDENTICAL TO THE C-TERMINAL HALF OF P110 NF-KAPPA-B - A NEW MEMBER OF THE I-KAPPA-B FAMILY [J].

INOUE, J ;

KERR, LD ;

KAKIZUKA, A ;

VERMA, IM .

CELL, 1992, 68 (06) :1109-1120

[15]

ISSELBACHER KJ, 1994, HARRISONS PRINCIPLES

[16] CHROMOSOMAL TRANSLOCATION T(15-17) IN HUMAN ACUTE PROMYELOCYTIC LEUKEMIA FUSES RAR-ALPHA WITH A NOVEL PUTATIVE TRANSCRIPTION FACTOR, PML [J].

KAKIZUKA, A ;

MILLER, WH ;

UMESONO, K ;

WARRELL, RP ;

FRANKEL, SR ;

MURTY, VVVS ;

DMITROVSKY, E ;

EVANS, RM .

CELL, 1991, 66 (04) :663-674

[17] A MOUSE CDC25 HOMOLOG IS DIFFERENTIALLY AND DEVELOPMENTALLY EXPRESSED [J].

KAKIZUKA, A ;

SEBASTIAN, B ;

BORGMEYER, U ;

HERMANSBORGMEYER, I ;

BOLADO, J ;

HUNTER, T ;

HOEKSTRA, MF ;

EVANS, RM .

GENES & DEVELOPMENT, 1992, 6 (04) :578-590

[18]

KARP SJ, 1993, J BIOL CHEM, V268, P3728

[19] TRINUCLEOTIDE REPEAT AMPLIFICATION AND HYPERMETHYLATION OF A CPG ISLAND IN FRAXE MENTAL-RETARDATION [J].

KNIGHT, SJL ;

FLANNERY, AV ;

HIRST, MC ;

CAMPBELL, L ;

CHRISTODOULOU, Z ;

PHELPS, SR ;

POINTON, J ;

MIDDLETONPRICE, HR ;

BARNICOAT, A ;

PEMBREY, ME ;

HOLLAND, J ;

OOSTRA, BA ;

BOBROW, M ;

DAVIES, KE .

CELL, 1993, 74 (01) :127-134

[20] UNSTABLE EXPANSION OF CAG REPEAT IN HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) [J].

KOIDE, R ;

IKEUCHI, T ;

ONODERA, O ;

TANAKA, H ;

IGARASHI, S ;

ENDO, K ;

TAKAHASHI, H ;

KONDO, R ;

ISHIKAWA, A ;

HAYASHI, T ;

SAITO, M ;

TOMODA, A ;

MIIKE, T ;

NAITO, H ;

IKUTA, F ;

TSUJI, S .

NATURE GENETICS, 1994, 6 (01) :9-13

← 1 2 3 4 →