摘要基因组结构变异是人类基因组中常见的一种变异形式,往往涉及染色体或大片段染色体区域的改变,将原来两个分开的DNA序列重新连接在一起,从而形成染色体片段的缺失、重复复制、插入、倒位或者易位.在核苷酸水平上对大量重排断裂点接头序列特征的分析,为研究基因组重排的机制提供了宝贵的资源.本文综述了导致基因组重排的同源重组和非同源修复机制,并提出复制过程在基因组重排中发挥了重要作用,是细胞压力和结构变异的潜在桥梁,对于理解人类基因组进化和人类疾病的发生发展具有重要意义.

abstractsGenomic structural variation (SV) is a normal part of variation in the human genome,which involves gross alterations or large regions of chromosomes and can take the form of deletions,duplications,insertions,inversions or translocations,and thus juxtapose two previously separated DNA sequences.The characterization of a considerable number of rearrangement breakpoints has now been accomplished at the level of nucleotide sequence,thereby providing an invaluable resource for studying the mutational mechanisms underlying genornic recombination.In this review,we introduce the mechanisms that lead to genomic rearrangements,homologous recombination and non-homologous repair.We propose that replication-based mechanisms play an important role in genomic rearrangements and could bridge cellular stress and structural changes in chromosomes,and thus promote understandings of genome evolution and the development of human diseases.