Genome wide copy number variations using Porcine 60K SNP Beadchip in Landlly pigs

In the present study, Porcine 60K SNP genotype data from 69 Landlly pigs were used to explore Copy Number Variations (CNVs) across the autosomes. A total of 386 CNVs were identified using Hidden Markov Model (HMM) in PennCNV software, which were subsequently aggregated to 115 CNV regions (CNVRs). Among the total detected CNVRs, 58 gain, 49 were loss type while remaining 8 events were both gain and loss types. Identified CNVRs covered 12.5 Mb (0.55%) of Sus scrofa reference 11.1 genome. Comparison of our results with previous investigations on pigs revealed that approximately 75% CNVRs were novel, which may be due to differences in genetic background, environment and implementation of artificial selection in Landlly pigs. Functional annotation and pathway analysis showed the significant enrichment of 267 well-annotated Sus scrofa genes in CNVRs. These genes were involved in different biological functions like sensory perception, meat quality traits, back fat thickness and immunity. Additionally, KIT and FUT1 were two major genes detected on CNVR in our population. This investigation provided a comprehensive overview of CNV distribution in the Indian porcine genome for the first time, which may be useful for further investigating the association of important quantitative traits in Landlly pigs.

Automated summary

In this study, genotype data of Porcine 60K SNP from 69 Landlly pigs were used to explore Copy Number Variations (CNVs) in autosomes. A total of 386 CNVs were identified and aggregated into 115 CNV regions (CNVRs). Approximately 75% of the detected CNVRs were novel. Functional annotation and pathway analysis revealed the enrichment of 267 well-annotated Sus scrofa genes in CNVRs, involved in various biological functions. This study provides a comprehensive overview of CNV distribution in the Indian porcine genome for the first time.