Copy number variation in the domestic dog

被引:43
|
作者
Alvarez, Carlos E. [1 ,2 ,3 ]
Akey, Joshua M. [4 ]
机构
[1] Nationwide Childrens Hosp, Res Inst, Ctr Human & Mol Genet, Columbus, OH 43205 USA
[2] Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43205 USA
[3] Ohio State Univ, Coll Vet Med, Dept Vet Clin Sci, Columbus, OH 43210 USA
[4] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA
基金
美国国家卫生研究院;
关键词
CONE-ROD DYSTROPHY; FACTOR-IX GENE; STRUCTURAL VARIATION; HUMAN GENOME; HEMOPHILIA-B; IVERMECTIN SENSITIVITY; DELETION MUTATION; LINE-1; INSERTION; SELECTIVE SWEEP; DISEASE;
D O I
10.1007/s00335-011-9369-8
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Differences in the content and organization of DNA, collectively referred to as structural variation, have emerged as a major source of genetic and phenotypic diversity within and between species. In addition, structural variation provides an important substrate for evolutionary innovations. Here, we review recent progress in characterizing patterns of canine structural variation within and between breeds, and in correlating copy number variants (CNVs) with phenotypes. Because of the extensive phenotypic diversity that exists within and between breeds and the tantalizing examples of canine CNVs that influence traits such as skin wrinkling in Shar-Pei, dorsal hair ridge in Rhodesian and Thai Ridgebacks, and short limbs in many breeds such as Dachshunds and Corgis, we argue that domesticated dogs are uniquely poised to contribute novel insights into CNV biology. As new technologies continue to be developed and refined, the field of canine genomics is on the precipice of a deeper understanding of how structural variation and CNVs contribute to canine genetic diversity, phenotypic variation, and disease susceptibility.
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页码:144 / 163
页数:20
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