Genomic drift and copy number variation of sensory receptor genes in humans

被引：104

作者：

Nozawa, Masafumi ^{[1
]}

Kawahara, Yoshihiro ^{[1
,2
]}

Nei, Masatoshi ^{[1
]}

机构：

[1] Penn State Univ, Dept Biol, Inst Mol Evolut Genet, University Pk, PA 16802 USA

[2] Japan Biol Informat Res Ctr, Integrated Database Team, Koto Ku, Tokyo 135, Japan

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 2007年 / 104卷 / 51期

关键词：

birth-death process; copy number evolution; human evolution; multigene family; olfactory receptor;

D O I：

10.1073/pnas.0709956104

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The number of sensory receptor genes varies extensively among different mammalian species. This variation is believed to be caused partly by physiological requirements of animals and partly by genomic drift due to random duplication and deletion of genes. If the contribution of genomic drift is substantial, each species should contain a significant amount of copy number variation (CNV). We therefore investigated CNVs in sensory receptor genes among 270 healthy humans by using published CNV data. The results indicated that olfactory receptor (OR), taste receptor type 2, and vomeronasal receptor type 1 genes show a high level of intraspecific CNVs. In particular, > 30% of the approximate to 800 OR gene loci in humans were polymorphic with respect to copy number, and two randomly chosen individuals showed a copy number difference of approximate to 11 in functional OR genes on average. There was no significant difference in the amount of CNVs between functional and nonfunctional OR genes. Because pseudogenes are expected to evolve in a neutral fashion, this observation suggests that functional OR genes also have evolved in a similar manner with respect to copy number change. In addition, we found that the evolutionary change of copy number of OR genes approximately follows the Gaussian process in probability theory, and the copy number divergence between populations has increased with evolutionary time. We therefore conclude that genomic drift plays an important role for generating intra- and interspecific CNVs of sensory receptor genes. Similar results were obtained when all annotated genes were analyzed.

引用

页码：20421 / 20426

页数：6

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