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Whole-genome sequencing reveals breed-differential CNVs between Tongcheng and Large White pigs
Authors:Q. Wu †  Y. Zhou †  Y. Wang  Y. Zhang  Y. Shen  Q. Su  G. Gao  H. Xu  X. Zhou  B. Liu
Affiliation:1. Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, Key Laboratory of Pig Genetics and Breeding of Ministry of Agriculture and College of Animal Science and Technology, Huazhong Agricultural University, Wuhan, 430070 China

Equal contributors.;2. Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, Key Laboratory of Pig Genetics and Breeding of Ministry of Agriculture and College of Animal Science and Technology, Huazhong Agricultural University, Wuhan, 430070 China;3. Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, Key Laboratory of Pig Genetics and Breeding of Ministry of Agriculture and College of Animal Science and Technology, Huazhong Agricultural University, Wuhan, 430070 China

The Cooperative Innovation Center for Sustainable Pig Production, Wuhan, 430070 China

Abstract:Large phenotypic differences have been observed between Tongcheng and Large White pigs. However, little is known about their genetic basis. This study performed a genome-wide comparison of CNVs between Tongcheng and Large White pigs using genome sequencing data. By combining the advantages of three different strategies (read depth, paired-end mapping and split read), we detected in total 18 687 CNVs that covered approximately 3.5% of the pig genome length for Tongcheng and Large White pigs. We identified 1864 breed-stratified CNVs (top 10%) by performing VST statistics. Functional enrichment analyses for genes located in breed-stratified CNVs were found to be involved in pigmentation, behavior, immune system and reproductive processes, which coincide with phenotypic differences between the two breeds. Using a systematic analysis of the genome and transcriptome data, we further identified four novel breed-differential CNVs on the functional genes (disease-resistant, DCUN1D2 and SPARCL1; lipid metabolism, PLEKHA2 and SLCO1A2). Subsequent PCR validation confirmed their accurate breakpoint positions in 33 Tongcheng pigs and 33 Large White pigs. This study provides essential information on differential CNVs for further research on the genetic basis of phenotypic differences between Tongcheng and Large White pigs.
Keywords:breakpoint identification  CNV detection  Large White pigs  Tongcheng pigs  transcriptome  whole-genome sequencing
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