The evolutionary significance of copy number variation in the human genome
The evolutionary significance of copy number variation in the human genome
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DOI：
10.1159/000184719
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发表时间：
2008-01-01
影响因子：
1.7
通讯作者：
Perry, G. H.
中科院分区：
文献类型：
--
作者：
Perry, G. H.
拷贝数变异为基因家族扩张和多样化提供了原材料，是重要的进化力量。此外，拷贝数变异（CNV）可以影响基因转录和翻译水平，并与复杂的疾病易感性相关。因此，自然选择可能影响了迄今为止在表型正常人类基因组中发现的超过 1000 个 CNV 中的至少一些。虽然识别和理解自然选择的特定实例可能有助于揭示人类进化史的重要方面，但我们在传统群体遗传框架中分析 CNV 的能力受到限制。然而，通过调整其中一些框架以与拷贝数数据一起使用，已经取得了进展。展望未来，这些努力将得到对拷贝数变异的群体遗传学的非人类生物体研究以及对物种内拷贝数变异和物种间拷贝数固定的更直接比较的帮助。版权所有 (c) 2009 S. Karger AG，巴塞尔
Copy number variation provides the raw material for gene family expansion and diversification, which is an important evolutionary force. Moreover, copy number variants (CNVs) can influence gene transcriptional and translational levels and have been associated with complex disease susceptibility. Therefore, natural selection may have affected at least some of the greater than one thousand CNVs thus far discovered among the genomes of phenotypically normal humans. While identifying and understanding particular instances of natural selection may shed light on important aspects of human evolutionary history, our ability to analyze CNVs in traditional population genetic frameworks has been limited. However, progress has been made by adapting some of these frameworks for use with copy number data. Moving forward, these efforts will be aided by non-human organism studies of the population genetics of copy number variation, and by more direct comparisons of within-species copy number variation and between-species copy number fixation. Copyright (c) 2009 S. Karger AG, Basel