Sharp Andrew J, Cheng Ze, Eichler Evan E
Department of Genome Sciences, University of Washington, Howard Hughes Medical Institute, Seattle, Washington 98195, USA.
Annu Rev Genomics Hum Genet. 2006;7:407-42. doi: 10.1146/annurev.genom.7.080505.115618.
There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes. We present a detailed review of the various structural rearrangements identified to date in humans, with particular reference to their influence on human phenotypic variation. Our current knowledge of the extent of human structural variation shows that the human genome is a highly dynamic structure that shows significant large-scale variation from the currently published genome reference sequence.
人们越来越认识到，人类基因组包含大量结构重排，如插入、缺失、倒位和大串联重复。最近的研究表明，正常人群中约5%的人类基因组在结构上是可变的，涉及800多个独立基因。我们对迄今为止在人类中发现的各种结构重排进行了详细综述，特别提及它们对人类表型变异的影响。我们目前对人类结构变异程度的了解表明，人类基因组是一个高度动态的结构，与目前公布的基因组参考序列相比，存在显著的大规模变异。
