A snapshot of CNVs in the pig genome

João Fadista, Marianne Nygaard, Lars-Erik Holm, Bo Thomsen, Christian Bendixen

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    Recent studies of mammalian genomes have uncovered the extent of copy number variation (CNV) that contributes to phenotypic diversity, including health and disease status. Here we report a first account of CNVs in the pig genome covering part of the chromosomes 4, 7, 14, and 17 already sequenced and assembled. A custom tiling oligonucleotide array was used with a median probe spacing of 409 bp for screening 12 unrelated Duroc boars that are founders of a large family material. After a strict CNV calling pipeline, 37 copy number variable regions (CNVRs) across all four chromosomes were identified, with five CNVRs overlapping segmental duplications, three overlapping pig unigenes and one overlapping a RefSeq pig mRNA. This CNV snapshot analysis is the first of its kind in the porcine genome and constitutes the basis for a better understanding of porcine phenotypes and genotypes with the prospect of identifying important economic traits.
    Original languageEnglish
    JournalP L o S One
    Pages (from-to)e3916
    Publication statusPublished - 2008


    • Animals
    • Comparative Genomic Hybridization
    • Gene Dosage
    • Genome
    • Oligonucleotide Array Sequence Analysis
    • Reproducibility of Results
    • Reverse Transcriptase Polymerase Chain Reaction
    • Sus scrofa


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