Journal
METHODS
Volume 49, Issue 1, Pages 18-25Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymeth.2009.06.001
Keywords
Rhesus macaques; Chimpanzees; Array comparative genomic hybridization; Microarrays; Genomic evolution; Structural variation; Primate evolution
Funding
- NHGRI NIH HHS [P41 HG004221, P41 HG004221-03] Funding Source: Medline
- NIGMS NIH HHS [R01 GM081533, R01 GM081533-02] Funding Source: Medline
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A substantial amount of genomic variation is now known to exist in humans and other primate species. Single nucleotide polymorphisms (SNPs) are thought to represent the vast majority of genomic differences among individuals in a given primate species and comprise about 0.1% of the genomes of two humans. However, recent studies have now shown that structural variation msay account for as much as 0.7% of the genomic differences in humans, of which copy number variants (CNVs) are the largest component. CNVs are segments of DNA that can range in size from hundreds of bases to millions of base pairs in length and have different number of copies between individuals. Recent technological advancements in array technologies led to genome-wide identification of CNVs and consequently revealed thousands of variable loci in humans, comprising as much as 12% of the human genome [A.J. Iafrate, L. Feuk, M.N. Rivera, M.L. Listewnik, P.K. Donahoe, Y.Qi, S.W. Scherer, C. Lee, Nat. Genet. 36 (2004) 949-951, [3]]. CNVs in humans have already been associated with susceptibility to certain complex diseases, dietary adaptation, and several neurological conditions. In addition, recent studies have shown that CNVs can be successfully implemented in population genetics research, providing important insights into human genetic variation. Nevertheless, the important role of CNVs in primate evolution and genetic diversity is still largely unknown. This article aims to outline the strengths and weaknesses of current comparative genomic hybridization array technologies that have been employed to detect CNV variation and the applications of these techniques to primate genetic research. (C) 2009 Elsevier Inc. All rights reserved.
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