Spontaneous and induced minisatellite instability

被引:30
作者
Jeffreys, AJ
Bois, P
Buard, J
Collick, A
Dubrova, Y
Hollies, CR
May, CA
Murray, J
Neil, DL
Neumann, R
Stead, JDH
Tamaki, K
Yardley, J
机构
基金
英国惠康基金;
关键词
conversion; minisatellite; mutation; radiation; recombination; tandem repeat;
D O I
10.1002/elps.1150180903
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
Minisatellites provide not only the basis for DNA fingerprinting and DNA profiling but also extremely informative systems for analysing processes of tandem repeat turnover in the human genome. Minisatellite instability appears to involve distinct mutation processes in somatic and germline cells; in the germline, mutation is frequently dominated by inter-allelic conversion-like events most likely occurring at meiosis and apparently regulated by cis-acting mutation initiator elements. Attempts to define these initiators in transgenic mice have so far been thwarted by what appears to be a major human/mouse barrier to the inter-species transfer of repeat instability. Minisatellites not only show high frequency spontaneous mutation in the germline, but also appear to be very sensitive to mutation induction by ionizing radiation, both in experimentally irradiated mice and in human populations exposed following the Chernobyl disaster; the mechanisms of mutation induction by radiation remain enigmatic.
引用
收藏
页码:1501 / 1511
页数:11
相关论文
共 58 条
[1]   CLUES TO THE PATHOGENESIS OF FAMILIAL COLORECTAL-CANCER [J].
AALTONEN, LA ;
PELTOMAKI, P ;
LEACH, FS ;
SISTONEN, P ;
PYLKKANEN, L ;
MECKLIN, JP ;
JARVINEN, H ;
POWELL, SM ;
JEN, J ;
HAMILTON, SR ;
PETERSEN, GM ;
KINZLER, KW ;
VOGELSTEIN, B ;
DELACHAPELLE, A .
SCIENCE, 1993, 260 (5109) :812-816
[2]   TANDEMLY REPEATED TRANSGENES OF THE HUMAN MINISATELLITE-MS32-(D1S8), WITH NOVEL MOUSE-GAMMA SATELLITE [J].
ALLEN, MJ ;
JEFFREYS, AJ ;
SURANI, MA ;
BARTON, S ;
NORRIS, ML ;
COLLICK, A .
NUCLEIC ACIDS RESEARCH, 1994, 22 (15) :2976-2981
[3]   Microsatellites show mutational bias and heterozygote instability [J].
Amos, W ;
Sawcer, SJ ;
Feakes, RW ;
Rubinsztein, DC .
NATURE GENETICS, 1996, 13 (04) :390-391
[4]  
Andreassen R, 1996, AM J HUM GENET, V59, P360
[5]   ANALYSIS OF SOMATIC MUTATIONS AT HUMAN MINISATELLITE LOCI IN TUMORS AND CELL-LINES [J].
ARMOUR, JAL ;
PATEL, I ;
THEIN, SL ;
FEY, MF ;
JEFFREYS, AJ .
GENOMICS, 1989, 4 (03) :328-334
[6]   ALLELIC DIVERSITY AT MINISATELLITE MS205 (D16S309) - EVIDENCE FOR POLARIZED VARIABILITY [J].
ARMOUR, JAL ;
HARRIS, PC ;
JEFFREYS, AJ .
HUMAN MOLECULAR GENETICS, 1993, 2 (08) :1137-1145
[7]   Minisatellite diversity supports a recent African origin for modern humans [J].
Armour, JAL ;
Anttinen, T ;
May, CA ;
Vega, EE ;
Sajantila, A ;
Kidd, JR ;
Kidd, KK ;
Bertranpetit, J ;
Paabo, S ;
Jeffreys, AJ .
NATURE GENETICS, 1996, 13 (02) :154-160
[8]   Distribution of tandem repeat polymorphism within minisatellite MS621 (D5S110) [J].
Armour, JAL ;
Crosier, M ;
Jeffreys, AJ .
ANNALS OF HUMAN GENETICS, 1996, 60 :11-20
[9]   COMPLEX RECOMBINATION EVENTS AT THE HYPERMUTABLE MINISATELLITE CEB1 (D2S90) [J].
BUARD, J ;
VERGNAUD, G .
EMBO JOURNAL, 1994, 13 (13) :3203-3210
[10]   GENE CONVERSION, RECOMBINATION NODULES, AND THE INITIATION OF MEIOTIC SYNAPSIS [J].
CARPENTER, ATC .
BIOESSAYS, 1987, 6 (05) :232-236