期刊
TRENDS IN GENETICS
卷 28, 期 6, 页码 245-257出版社
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2012.03.002
关键词
copy number variation; adaptation; human evolution
资金
- [R01 GM0851533-04]
- [F32 AG 039979]
Over the past decade, the ubiquity of copy number variants (CNVs, the gain or loss of genomic material) in the genomes of healthy humans has become apparent. Although some of these variants are associated with disorders, a handful of studies documented an adaptive advantage conferred by CNVs. In this review, we propose that CNVs are substrates for human evolution and adaptation. We discuss the possible mechanisms and evolutionary processes in which CNVs are selected, outline the current challenges in identifying these loci, and highlight that copy number variable regions allow for the creation of novel genes that may diversify the repertoire of such genes in response to rapidly changing environments. We expect that many more adaptive CNVs will be discovered in the coming years, and we believe that these new findings will contribute to our understanding of human-specific phenotypes.
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