TY - JOUR
T1 - A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog
AU - Nicholas, Thomas J.
AU - Baker, Carl
AU - Eichler, Evan E.
AU - Akey, Joshua M.
N1 - Funding Information:
We thank members of the Akey laboratory and Katrina Mealey for helpful discussions related to this work. In addition, we thank Mark Neff for DNA samples. This work was supported, in part, by an NIH grant HG002385 to E.E. E. E.E.E. is an investigator of the Howard Hughes Medical Institute.
PY - 2011/8/16
Y1 - 2011/8/16
N2 - Background: Structural variation contributes to the rich genetic and phenotypic diversity of the modern domestic dog, Canis lupus familiaris, although compared to other organisms, catalogs of canine copy number variants (CNVs) are poorly defined. To this end, we developed a customized high-density tiling array across the canine genome and used it to discover CNVs in nine genetically diverse dogs and a gray wolf.Results: In total, we identified 403 CNVs that overlap 401 genes, which are enriched for defense/immunity, oxidoreductase, protease, receptor, signaling molecule and transporter genes. Furthermore, we performed detailed comparisons between CNVs located within versus outside of segmental duplications (SDs) and find that CNVs in SDs are enriched for gene content and complexity. Finally, we compiled all known dog CNV regions and genotyped them with a custom aCGH chip in 61 dogs from 12 diverse breeds. These data allowed us to perform the first population genetics analysis of canine structural variation and identify CNVs that potentially contribute to breed specific traits.Conclusions: Our comprehensive analysis of canine CNVs will be an important resource in genetically dissecting canine phenotypic and behavioral variation.
AB - Background: Structural variation contributes to the rich genetic and phenotypic diversity of the modern domestic dog, Canis lupus familiaris, although compared to other organisms, catalogs of canine copy number variants (CNVs) are poorly defined. To this end, we developed a customized high-density tiling array across the canine genome and used it to discover CNVs in nine genetically diverse dogs and a gray wolf.Results: In total, we identified 403 CNVs that overlap 401 genes, which are enriched for defense/immunity, oxidoreductase, protease, receptor, signaling molecule and transporter genes. Furthermore, we performed detailed comparisons between CNVs located within versus outside of segmental duplications (SDs) and find that CNVs in SDs are enriched for gene content and complexity. Finally, we compiled all known dog CNV regions and genotyped them with a custom aCGH chip in 61 dogs from 12 diverse breeds. These data allowed us to perform the first population genetics analysis of canine structural variation and identify CNVs that potentially contribute to breed specific traits.Conclusions: Our comprehensive analysis of canine CNVs will be an important resource in genetically dissecting canine phenotypic and behavioral variation.
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U2 - 10.1186/1471-2164-12-414
DO - 10.1186/1471-2164-12-414
M3 - Article
C2 - 21846351
AN - SCOPUS:80051625199
SN - 1471-2164
VL - 12
JO - BMC Genomics
JF - BMC Genomics
M1 - 414
ER -