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

页码：221 / 228

页数：8

共 39 条

[1] THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (CAG) REPEAT LENGTH AND CLINICAL-FEATURES OF HUNTINGTONS-DISEASE [J].

ANDREW, SE ;

GOLDBERG, YP ;

KREMER, B ;

TELENIUS, H ;

THEILMANN, J ;

ADAM, S ;

STARR, E ;

SQUITIERI, F ;

LIN, BY ;

KALCHMAN, MA ;

GRAHAM, RK ;

HAYDEN, MR .

NATURE GENETICS, 1993, 4 (04) :398-403

[2] CLONING OF THE ESSENTIAL MYOTONIC-DYSTROPHY REGION AND MAPPING OF THE PUTATIVE DEFECT [J].

ASLANIDIS, C ;

JANSEN, G ;

AMEMIYA, C ;

SHUTLER, G ;

MAHADEVAN, M ;

TSILFIDIS, C ;

CHEN, C ;

ALLEMAN, J ;

WORMSKAMP, NGM ;

VOOIJS, M ;

BUXTON, J ;

JOHNSON, K ;

SMEETS, HJM ;

LENNON, GG ;

CARRANO, AV ;

KORNELUK, RG ;

WIERINGA, B ;

DEJONG, PJ .

NATURE, 1992, 355 (6360) :548-551

[3] THE NATURAL-HISTORY OF MACHADO-JOSEPH DISEASE - AN ANALYSIS OF 138 PERSONALLY EXAMINED CASES [J].

BARBEAU, A ;

ROY, M ;

CUNHA, L ;

DEVINCENTE, AN ;

ROSENBERG, RN ;

NYHAN, WL ;

MACLEOD, PL ;

CHAZOT, G ;

LANGSTON, LB ;

DAWSON, DM ;

COUTINHO, P .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1984, 11 (04) :510-525

[4] MACHADO-JOSEPH-AZOREAN DISEASE IN INDIA [J].

BHARUCHA, NE ;

BHARUCHA, EP ;

BHABHA, SK .

ARCHIVES OF NEUROLOGY, 1986, 43 (02) :142-144

[5] MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER [J].

BROOK, JD ;

MCCURRACH, ME ;

HARLEY, HG ;

BUCKLER, AJ ;

CHURCH, D ;

ABURATANI, H ;

HUNTER, K ;

STANTON, VP ;

THIRION, JP ;

HUDSON, T ;

SOHN, R ;

ZEMELMAN, B ;

SNELL, RG ;

RUNDLE, SA ;

CROW, S ;

DAVIES, J ;

SHELBOURNE, P ;

BUXTON, J ;

JONES, C ;

JUVONEN, V ;

JOHNSON, K ;

HARPER, PS ;

SHAW, DJ ;

HOUSMAN, DE .

CELL, 1992, 68 (04) :799-808

[6] DETECTION OF AN UNSTABLE FRAGMENT OF DNA SPECIFIC TO INDIVIDUALS WITH MYOTONIC-DYSTROPHY [J].

BUXTON, J ;

SHELBOURNE, P ;

DAVIES, J ;

JONES, C ;

VANTONGEREN, T ;

ASLANIDIS, C ;

DEJONG, P ;

JANSEN, G ;

ANVRET, M ;

RILEY, B ;

WILLIAMSON, R ;

JOHNSON, K .

NATURE, 1992, 355 (6360) :547-548

[7] TRINUCLEOTIDE REPEAT LENGTH INSTABILITY AND AGE-OF-ONSET IN HUNTINGTONS-DISEASE [J].

DUYAO, M ;

AMBROSE, C ;

MYERS, R ;

NOVELLETTO, A ;

PERSICHETTI, F ;

FRONTALI, M ;

FOLSTEIN, S ;

ROSS, C ;

FRANZ, M ;

ABBOTT, M ;

GRAY, J ;

CONNEALLY, P ;

YOUNG, A ;

PENNEY, J ;

HOLLINGSWORTH, Z ;

SHOULSON, I ;

LAZZARINI, A ;

FALEK, A ;

KOROSHETZ, W ;

SAX, D ;

BIRD, E ;

VONSATTEL, J ;

BONILLA, E ;

ALVIR, J ;

CONDE, JB ;

CHA, JH ;

DURE, L ;

GOMEZ, F ;

RAMOS, M ;

SANCHEZRAMOS, J ;

SNODGRASS, S ;

DEYOUNG, M ;

WEXLER, N ;

MOSCOWITZ, C ;

PENCHASZADEH, G ;

MACFARLANE, H ;

ANDERSON, M ;

JENKINS, B ;

SRINIDHI, J ;

BARNES, G ;

GUSELLA, J ;

MACDONALD, M .

NATURE GENETICS, 1993, 4 (04) :387-392

[8] AN UNSTABLE TRIPLET REPEAT IN A GENE RELATED TO MYOTONIC MUSCULAR-DYSTROPHY [J].

FU, YH ;

PIZZUTI, A ;

FENWICK, RG ;

KING, J ;

RAJNARAYAN, S ;

DUNNE, PW ;

DUBEL, J ;

NASSER, GA ;

ASHIZAWA, T ;

DEJONG, P ;

WIERINGA, B ;

KORNELUK, R ;

PERRYMAN, MB ;

EPSTEIN, HF ;

CASKEY, CT .

SCIENCE, 1992, 255 (5049) :1256-1258

[9] VARIATION OF THE CGG REPEAT AT THE FRAGILE-X SITE RESULTS IN GENETIC INSTABILITY - RESOLUTION OF THE SHERMAN PARADOX [J].

FU, YH ;

KUHL, DPA ;

PIZZUTI, A ;

PIERETTI, M ;

SUTCLIFFE, JS ;

RICHARDS, S ;

VERKERK, AJMH ;

HOLDEN, JJA ;

FENWICK, RG ;

WARREN, ST ;

OOSTRA, BA ;

NELSON, DL ;

CASKEY, CT .

CELL, 1991, 67 (06) :1047-1058

[10] CHROMOSOMAL ASSIGNMENT OF THE 2ND LOCUS FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA2) TO CHROMOSOME 12Q23-24.1 [J].

GISPERT, S ;

TWELLS, R ;

OROZCO, G ;

BRICE, A ;

WEBER, J ;

HEREDERO, L ;

SCHEUFLER, K ;

RILEY, B ;

ALLOTEY, R ;

NOTHERS, C ;

HILLERMANN, R ;

LUNKES, A ;

KHATI, C ;

STEVANIN, G ;

HERNANDEZ, A ;

MAGARINO, C ;

KLOCKGETHER, T ;

DURR, A ;

CHNEIWEISS, H ;

ENCZMANN, J ;

FARRALL, M ;

BECKMANN, J ;

MULLAN, M ;

WERNET, P ;

AGID, Y ;

FREUND, HJ ;

WILLIAMSON, R ;

AUBURGER, G ;

CHAMBERLAIN, S .

NATURE GENETICS, 1993, 4 (03) :295-299

← 1 2 3 4 →