ORBi: Sartelet Arnaud - A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response.

Reference : A splice site variant in the bovine RNF11 gene compromises growth and regulation of the ...


	Document type :	Scientific journals : Article
	Discipline(s) :	Life sciences : Veterinary medicine & animal health Life sciences : Genetics & genetic processes
	To cite this reference:	http://hdl.handle.net/2268/115955

Title :	A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory response.
Language :	English
Author, co-author :	Sartelet, Arnaud [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
	Druet, Tom [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
	Michaux, Charles [Université de Liège - ULg > Département de productions animales > Biostatistique, économie, sélection animale >]
	Fasquelle, Corinne [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 [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 [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
	Georges, Michel [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
	Charlier, Carole [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Publication date :	15-Mar-2012
Journal title :	PLoS Genetics
Publisher :	Public Library of Science
Volume :	15
Issue/season :	3
Pages :	e1002581
Audience :	International
ISSN :	1553-7390
e-ISSN :	1553-7404
City :	San Francisco
Country :	CA
Keywords :	[en] RNF11 ; A20 complex ; splice site variant ; dwarfism ; growth ; stature ; Belgian blue cattle
Abstract :	[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.
Research units :	Giga-Genetics - Unit of Animal Genomics
Funders :	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
Name of the research project :	Rilouke ! Tares et pathologies à composante héréditaire en race Blanc-Bleu Belge, vers le développement d’un Réseau Intégré de Lutte.
Target :	Researchers ; Professionals ; Students
Permalink :	http://hdl.handle.net/2268/115955
DOI :	10.1371/journal.pgen.1002581

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Open access	RNF11_PLoSGenetics2011.pdf		Publisher postprint	1.51 MB	View/Open

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Open access	RNF11_PLosGenetics2012_S1.pdf		-	554.63 kB	View/Open

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