Reference : A splice site variant in the bovine RNF11 gene compromises growth and regulation of the ...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Life sciences : Veterinary medicine & animal health
http://hdl.handle.net/2268/115955
A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response.
English
Sartelet, Arnaud mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Druet, Tom mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Michaux, Charles mailto [Université de Liège - ULg > Département de productions animales > Biostatistique, économie, sélection animale >]
Fasquelle, Corinne mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > GIGA-R : Génétique humaine >]
Geron, Sarah [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Tamma, Nico mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Zhang, Zhiyan [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Coppieters, Wouter mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Georges, Michel mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Charlier, Carole mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
15-Mar-2012
PLoS Genetics
Public Library of Science
15
3
e1002581
Yes (verified by ORBi)
International
1553-7390
1553-7404
San Francisco
CA
[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.
Researchers ; Professionals ; Students
http://hdl.handle.net/2268/115955
10.1371/journal.pgen.1002581

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