Rapid Discovery of Mutations Responsible for Sporadic Dominant Genetic Defects in Livestock Using Genome Sequence Data: Enhancing the Value of Farm Animals as Model Species

Abstract Text: The availability of novel technologies and the development of large data sets of phenotypic records, high density SNP genotyping data and whole-genome sequencing data for genomic selection purpose offers unprecedented opportunity to dissect in record time the genetic architecture of phenotypes in livestock. Here we report the identification of candidate mutations for three dominant genetic defects (bulldog calf syndrome and glass-eyed albino in Holstein and a novel neurocristopathy in Montbéliarde dairy cattle) by sequencing as few as one or two cases and then using whole genome sequencing data from 526 animals from 16 different breeds as controls. The rapid identification of mutations underlying sporadic syndromes which also occur in humans, increases the attractiveness of cattle to confirm the genetic etiology of isolated clinical case reports and become models for such diseases in the post genomic era.

Keywords: Whole genome sequencing, Dominant genetic defect, COL2A1, MITF, CHD7