作者: Jeffrey A. Bailey , Evan E. Eichler
DOI: 10.1038/NRG1895
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摘要: Compared with other mammals, the genomes of humans and primates show an enrichment large, interspersed segmental duplications (SDs) high levels sequence identity. Recent evidence has begun to shed light on origin primate SDs, pointing a complex interplay mechanisms indicating that distinct waves duplication took place during evolution. There is also for strong association between duplication, genomic instability large-scale chromosomal rearrangements. Exciting new findings suggest SDs have not only created novel gene families, but might influenced current human genic phenotypic variation previously unappreciated scale. A growing number examples link natural genetic these regions susceptibility common disease.