Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array

BMC Genomics

Kerstin Lindblad-Toh²  Matthew T Webster¹  Jonas Berglund¹  Anna-Maja Molin¹ 

[1] Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden;Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA

关键词: CanineHD;    Duplication;    Deletion;    Dog genome;    SNP genotyping array;    CNV;    Copy number variation;   

Others  :  1217670
DOI  :  10.1186/1471-2164-15-210

 received in 2014-02-20, accepted in 2014-03-13,  发布年份 2014

【 摘 要 】

Background

Substantial contribution to phenotypic diversity is accounted for by copy number variants (CNV). In human, as well as other species, the effect of CNVs range from benign to directly disease-causing which motivates the continued investigations of CNVs. Previous canine genome-wide screenings for CNVs have been performed using high-resolution comparative genomic hybridisation arrays which have contributed with a detailed catalogue of CNVs. Here, we present the first CNV investigation in dogs based on the recently reported CanineHD 170 K genotyping array. The hitherto largest dataset in canine CNV discovery was assessed, 351 dogs from 30 different breeds, enabling identification of novel CNVs and a thorough characterisation of breed-specific CNVs.

Results

A stringent procedure identified 72 CNV regions with the smallest size of 38 kb and of the 72 CNV regions, 38 overlapped 148 annotated genes. A total of 29 novel CNV regions were found containing 44 genes. Furthermore, 15 breed specific CNV regions were identified of which 14 were novel and some of them overlapped putative disease susceptibility genes. In addition, the human ortholog of 23 canine copy number variable genes identified herein has been previously suggested to be dosage-sensitive in human.

Conclusions

The present study evaluated the performance of the CanineHD in detecting CNVs and extends the current catalogue of canine CNV regions with several dozens of novel CNV regions. These novel CNV regions, which harbour candidate genes that possibly contribute to phenotypic variation in dogs or to disease-susceptibility, are a rich resource for future investigations.

【 授权许可】

   
2014 Molin et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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