Jeffreys A J, Bois P, Buard J, Collick A, Dubrova Y, Hollies C R, May C A, Murray J, Neil D L, Neumann R, Stead J D, Tamaki K, Yardley J
Department of Genetics, University of Leicester, UK.
Electrophoresis. 1997 Aug;18(9):1501-11. doi: 10.1002/elps.1150180903.
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.
微卫星不仅为DNA指纹识别和DNA图谱分析提供了基础，也是分析人类基因组中串联重复序列更新过程的极具信息价值的系统。微卫星不稳定性似乎涉及体细胞和生殖细胞中不同的突变过程；在生殖细胞中，突变通常由等位基因间转换样事件主导，这些事件最有可能发生在减数分裂时，且显然受顺式作用突变起始元件调控。迄今为止，在转基因小鼠中定义这些起始元件的尝试因重复序列不稳定性跨物种转移时出现的一个主要的人与小鼠之间的障碍而受阻。微卫星不仅在生殖细胞中显示出高频自发突变，而且在实验照射的小鼠以及切尔诺贝利灾难后受照射的人群中，似乎对电离辐射诱导的突变也非常敏感；辐射诱导突变的机制仍然是个谜。
