结构变异
同源重组
生物
遗传学
非等位同源重组
断点
基因组
变色
同源染色体
基因组DNA
重组
基因复制
人类基因组
计算生物学
基因组不稳定性
DNA
染色体易位
基因
遗传重组
DNA损伤
出处
期刊:Int J Genet
日期:2017-04-15
卷期号:40 (2): 84-88
标识
DOI:10.3760/cma.j.issn.1673-4386.2017.02.004
摘要
Genomic 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 genomic 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.
Key words:
Genomic structural variation; Genomic rearrangements; Homologous recombination; Non-homologous repair
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