Poster presentation, P131

Official XXIst International Pigment Cell Conference website - 21-24 Sept 2011, Bordeaux - France | updated: September 04 2011

Detection of CNVs throughout the genome of a porcine melanoma model

Structural variation of genomes as copy number variants (CNV) or insertion-deletions of several kilobases is a subject of growing interest in biomedical research. Indeed, CNVs are suspected to have a great influence on the outbreak of several complex diseases and could explain a part of the missing heritability phenomenon observed in genome-wide association studies. The objective of this study was to detect CNVs in a porcine model of melanoma, the MeLiM pig, which develops spontaneous cutaneous melanomas at birth or within the first months of life, before undergoing a complete tumor regression. We took advantage of high-throughput SNP genotyping realized on a backcross pedigree MeLiM X Duroc and used the raw intensity data from more than 60000 markers to detect potential CNV events with the PennCNV software. We observed CNVs specific to MeLiM and to Duroc breeds, and corresponding to deletions as well as segmental duplications. Thanks to the family information of the pedigree, a filter to remove spurious CNVs was performed. We are now selecting and annotating each CNV specific to the MeLiM pigs. A subset of relevant CNVs will be validated with quantitative PCR in both MeLiM purebreds and MeLiMxDuroc animals and association studies with melanoma-related traits will be performed.

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