Richard G F, Pâques F
Unité de Génétique Moléculaire des Levures, URA 2171 CNRS, Paris, France.
EMBO Rep. 2000 Aug;1(2):122-6. doi: 10.1093/embo-reports/kvd031.
It is widely accepted that the large trinucleotide repeat expansions observed in many neurological diseases occur during replication. However, genetic recombination has emerged as a major source of instability for tandem repeats, including minisatellites, and recent studies raise the possibility that it may also be responsible for trinucleotide repeat expansions. We will review data connecting tandem repeat rearrangements and recombination in humans and in eukaryotic model organisms, and discuss the possible role of recombination in trinucleotide repeat expansions in human neurological disorders.
人们普遍认为，在许多神经疾病中观察到的大型三核苷酸重复序列扩增发生在复制过程中。然而，基因重组已成为包括微卫星在内的串联重复序列不稳定的主要来源，最近的研究提出，它也可能是三核苷酸重复序列扩增的原因。我们将回顾有关人类和真核模式生物中串联重复序列重排与重组之间联系的数据，并讨论重组在人类神经疾病三核苷酸重复序列扩增中可能发挥的作用。
