Identification of Copy Number Variations in Xiang and Kele Pigs

PLoS One. 2016 Feb 3;11(2):e0148565. doi: 10.1371/journal.pone.0148565. eCollection 2016.

Abstract

Xiang and Kele pigs are two well-known local Chinese pig breeds that possess rich genetic resources and have enormous economic and scientific value. We performed a comprehensive genomic analysis of the copy number variations (CNVs) in these breeds. CNVs are one of the most important forms of genomic variation and have profound effects on phenotypic variation. In this study, PorcineSNP60 genotyping data from 98 Xiang pigs and 22 Kele pigs were used to identify CNVs. In total, 172 candidate CNV regions (CNVRs) were identified, ranging from 3.19 kb to 8175.26 kb and covering 80.41 Mb of the pig genome. Approximately 56.40% (97/172) of the CNVRs overlapped with those identified in seven previous studies, and 43.60% (75/172) of the identified CNVRs were novel. Of the identified CNVRs, 82 (47 gain, 33 loss, and two gain-loss events that covered 4.58 Mb of the pig genome) were found only in a Xiang population with a large litter size. In contrast, 13 CNVRs (8 gain and 5 loss events) were unique to a Xiang population with small litter sizes, and 30 CNVRs (14 loss and 16 gain events) were unique to Kele pigs. The CNVRs span approximately 660 annotated Sus scrofa genes that are significantly enriched for specific biological functions, such as sensory perception, cognition, reproduction, ATP biosynthetic processes, and neurological processes. Many CNVR-associated genes, particularly the genes involved in reproductive traits, differed between the Xiang populations with large and small litter sizes, and these genes warrant further investigation due to their importance in determining the reproductive performance of Xiang pigs. Our results provide meaningful information about genomic variation, which may be useful in future assessments of the associations between CNVs and important phenotypes in Xiang and Kele pigs to ultimately help protect these rare breeds.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • China
  • Gene Dosage*
  • Litter Size / genetics*
  • Polymorphism, Single Nucleotide*
  • Swine / genetics*

Grants and funding

This study was funded by the National High Technology Research and Development Program (863 Program), grant 2013AA102503, (http://www.most.gov.cn/bszn/new/863/jbxx/), the Guizhou Agricultural Science and Technology research projects (NY [2013] 3073), (http://kjt.gzst.gov.cn), the Innovation Funds of Guizhou University (2015009)(http://www.gzu.edu.cn/), the Guizhou Province Science and Technology Innovation Team Building Special (Guizhou Branch of talent team 2009-4006) and the Guizhou University "undergraduate teaching project" (BKJX2012007). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.