Study on the mechanisms of genomic rearrangements

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