Bailey Jeffrey A, Eichler Evan E
Department of Pathology, Case Western University School of Medicine and University Hospitals of Cleveland, Ohio 44106, USA.
Nat Rev Genet. 2006 Jul;7(7):552-64. doi: 10.1038/nrg1895. Epub 2006 Jun 13.
Compared with other mammals, the genomes of humans and other primates show an enrichment of large, interspersed segmental duplications (SDs) with high levels of sequence identity. Recent evidence has begun to shed light on the origin of primate SDs, pointing to a complex interplay of mechanisms and indicating that distinct waves of duplication took place during primate evolution. There is also evidence for a strong association between duplication, genomic instability and large-scale chromosomal rearrangements. Exciting new findings suggest that SDs have not only created novel primate gene families, but might have also influenced current human genic and phenotypic variation on a previously unappreciated scale. A growing number of examples link natural human genetic variation of these regions to susceptibility to common disease.
与其他哺乳动物相比，人类和其他灵长类动物的基因组显示出富含大量具有高度序列同一性的散布性节段重复（SDs）。最近的证据已开始揭示灵长类动物SDs的起源，指出了各种机制之间的复杂相互作用，并表明在灵长类动物进化过程中发生了不同的重复浪潮。也有证据表明重复、基因组不稳定性和大规模染色体重排之间存在密切关联。令人兴奋的新发现表明，SDs不仅创造了新的灵长类基因家族，还可能在之前未被认识到的规模上影响了当前人类的基因和表型变异。越来越多的例子将这些区域的人类自然遗传变异与常见疾病易感性联系起来。
