Dynamic mutation: possible mechanisms and significance in human disease

被引:72
作者
Richards, RI [1 ]
Sutherland, GR [1 ]
机构
[1] UNIV ADELAIDE,DEPT GENET,ADELAIDE,SA 5000,AUSTRALIA
关键词
D O I
10.1016/S0968-0004(97)01108-0
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Increases in repeat-DNA copy number are the molecular basis of a growing list of human genetic diseases, including fragile X syndrome, myotonic dystrophy, Huntington disease and a form of epilepsy. Repeat-DNA sequences undergo a unique process of dynamic mutation, the common properties of which probably reflect common molecular events. This form of mutation is no longer restricted to trinucleotide repeats, because repeats of different length have been found to undergo expansion.
引用
收藏
页码:432 / 436
页数:5
相关论文
共 33 条
[1]   SUSCEPTIBILITY TO HUMAN TYPE-1 DIABETES AT IDDM2 IS DETERMINED BY TANDEM REPEAT VARIATION AT THE INSULIN GENE MINISATELLITE LOCUS [J].
BENNETT, ST ;
LUCASSEN, AM ;
GOUGH, SCL ;
POWELL, EE ;
UNDLIEN, DE ;
PRITCHARD, LE ;
MERRIMAN, ME ;
KAWAGUCHI, Y ;
DRONSFIELD, MJ ;
POCIOT, F ;
NERUP, J ;
BOUZEKRI, N ;
CAMBONTHOMSEN, A ;
RONNINGEN, KS ;
BARNETT, AH ;
BAIN, SC ;
TODD, JA .
NATURE GENETICS, 1995, 9 (03) :284-292
[2]   CHARACTERIZATION OF THE COL2A1 VNTR POLYMORPHISM [J].
BERG, ES ;
OLAISEN, B .
GENOMICS, 1993, 16 (02) :350-354
[3]   Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion [J].
Campuzano, V ;
Montermini, L ;
Molto, MD ;
Pianese, L ;
Cossee, M ;
Cavalcanti, F ;
Monros, E ;
Rodius, F ;
Duclos, F ;
Monticelli, A ;
Zara, F ;
Canizares, J ;
Koutnikova, H ;
Bidichandani, SI ;
Gellera, C ;
Brice, A ;
Trouillas, P ;
DeMichele, G ;
Filla, A ;
DeFrutos, R ;
Palau, F ;
Patel, PI ;
DiDonato, S ;
Mandel, JL ;
Cocozza, S ;
Koenig, M ;
Pandolfo, M .
SCIENCE, 1996, 271 (5254) :1423-1427
[4]  
Cossee M., 1996, American Journal of Human Genetics, V59, pA254
[5]   A POINT MUTATION IN THE FMR-1 GENE ASSOCIATED WITH FRAGILE-X MENTAL-RETARDATION [J].
DEBOULLE, K ;
VERKERK, AJMH ;
REYNIERS, E ;
VITS, L ;
HENDRICKX, J ;
VANROY, B ;
VANDENBOS, F ;
DEGRAAFF, E ;
OOSTRA, BA ;
WILLEMS, PJ .
NATURE GENETICS, 1993, 3 (01) :31-35
[6]  
Filla A, 1996, AM J HUM GENET, V59, P554
[7]   Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract [J].
Goldberg, YP ;
Nicholson, DW ;
Rasper, DM ;
Kalchman, MA ;
Koide, HB ;
Graham, RK ;
Bromm, M ;
KazemiEsfarjani, P ;
Thornberry, NA ;
Vaillancourt, JP ;
Hayden, MR .
NATURE GENETICS, 1996, 13 (04) :442-449
[8]  
GOLDFARB LG, 1996, TRANSMISSIBLE SUBACU
[9]   Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island [J].
Gu, YH ;
Shen, Y ;
Gibbs, RA ;
Nelson, DJ .
NATURE GENETICS, 1996, 13 (01) :109-113
[10]   Myotonic dystrophy: Will the real gene please step forward! [J].
Harris, S ;
Moncrieff, C ;
Johnson, K .
HUMAN MOLECULAR GENETICS, 1996, 5 :1417-1423