[en] RNF11 ; A20 complex ; splice site variant ; dwarfism ; growth ; stature ; Belgian blue cattle
[en] We herein report association mapping of a locus on bovine chromosome 3 that underlies a Mendelian form of stunted growth in Belgian Blue Cattle. By resequencing positional candidates, we identify the causative c124-2A>G splice variant in intron 1 of the RNF11 gene, for which all affected animals are homozygous. We make the remarkable observation that 26% of healthy Belgian Blue animals carry the corresponding variant. We demonstrate in a prospective study design that approximately one third of homozygous mutants die prematurely with major inflammatory lesions, hence explaining the rarity of growth-stunted animals despite the high frequency of carriers. We provide preliminary evidence that heterozygous advantage for an as of yet unidentified phenotype may have caused a selective sweep accounting for the high frequency of the RNF11 c124-2A>G mutation in Belgian Blue Cattle.
Giga-Genetics - Unit of Animal Genomics
Ministère de l'Agriculture de la Région Wallone (DGARNE) ; Fonds de la Recherche Scientifique (Communauté française de Belgique) - F.R.S.-FNRS ; Belgian Science Policy Organization
Rilouke ! Tares et pathologies à composante héréditaire en race Blanc-Bleu Belge, vers le développement d’un Réseau Intégré de Lutte.