A genome-wide detection of copy number variation using SNP genotyping arrays in Beijing-You chickens

Genetica. 2014 Oct;142(5):441-50. doi: 10.1007/s10709-014-9788-z. Epub 2014 Sep 12.

Abstract

Copy number variation (CNV) has been recently examined in many species and is recognized as being a source of genetic variability, especially for disease-related phenotypes. In this study, the PennCNV software, a genome-wide CNV detection system based on the 60 K SNP BeadChip was used on a total sample size of 1,310 Beijing-You chickens (a Chinese local breed). After quality control, 137 high confidence CNVRs covering 27.31 Mb of the chicken genome and corresponding to 2.61 % of the whole chicken genome. Within these regions, 131 known genes or coding sequences were involved. Q-PCR was applied to verify some of the genes related to disease development. Results showed that copy number of genes such as, phosphatidylinositol-5-phosphate 4-kinase II alpha, PHD finger protein 14, RHACD8 (a CD8α- like messenger RNA), MHC B-G, zinc finger protein, sarcosine dehydrogenase and ficolin 2 varied between individual chickens, which also supports the reliability of chip-detection of the CNVs. As one source of genomic variation, CNVs may provide new insight into the relationship between the genome and phenotypic characteristics.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Avian Proteins / genetics
  • Chickens / genetics*
  • Chromosome Mapping / methods
  • DNA Copy Number Variations*
  • Genetic Predisposition to Disease / genetics
  • Genome-Wide Association Study / methods*
  • Genotype
  • Genotyping Techniques / methods
  • Oligonucleotide Array Sequence Analysis / methods*
  • Polymorphism, Single Nucleotide*
  • Poultry Diseases / genetics
  • Reproducibility of Results
  • Software*

Substances

  • Avian Proteins