Analysis of copy number variations by SNP50 BeadChip array in Chinese sheep

• The sheep (Ovis aries) plays a major socio-economic role in the world.
• CNVs were recognized as a key and potent source of genetic variation and phenotypic diversity.
• CNV is an omission that little is known in Chinese sheep breeds.
• A total of 22 Go terms and 17 candidate genes were obtained from the functional analysis.
• These results provide a resource for improving the genetic quality of sheep breeds.

The sheep (Ovis aries) plays a major socio-economic role in the world. Copy number variations (CNVs) are increasingly recognized as a key and potent source of genetic variation and phenotypic diversity, but little is known about the extent to which CNVs contribute to genetic variation in Chinese sheep breeds. Analyses of CNVs in the genomes of eight sheep breeds were performed using the sheep SNP50 BeadChip genotyping array. A total of 111 CNV regions (CNVRs) were obtained from 160 Chinese sheep breeds. These CNVRs covered 13.75 Mb of the sheep genome sequence. A total of 22 Go terms and 17 candidate genes were obtained from the functional analysis. Ten CNVRs were selected for validation, of which 7 CNVRs were further experimentally confirmed by quantitative PCR. Four candidate genes were selected to confirm the results of the functional analysis. These results provide a resource for furthering understanding of ruminant biology, and for further improving the genetic quality of sheep breeds.