title: Allelic heterogeneity of Crooked Tail Syndrome: result of balancing selection?
abstract: We report the identification of a second loss-of-function mutation (c.1906T>C) in the bovine MRC2 gene causing the Crooked Tail Syndrome in Belgian Blue Cattle. We demonstrate that the ensuing substitution of the highly conserved Cysteine 636 with Arginine causes illegitimate receptor oligomerization, which is predicted to impair function of the MRC2 encoded protein, Endo180. We propose that this second MRC2 mutation was selected by breeders as a result of its favourable effect on muscularity in heterozygotes.
authors.affiliation: Unit of Animal Genomics, GIGA-R & Department of Animal Sciences, Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Sartelet
authors.forename: P
authors.initials: P
authors.lastname: Klingbeil
authors.forename: C K
authors.initials: CK
authors.lastname: Franklin
authors.forename: C
authors.initials: C
authors.lastname: Fasquelle
authors.forename: S
authors.initials: S
authors.lastname: Géron
authors.forename: C M
authors.initials: CM
authors.lastname: Isacke
authors.forename: M
authors.initials: M
authors.lastname: Georges
authors.forename: C
authors.initials: C
authors.lastname: Charlier
mesh_terms: D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005786:Gene Expression Regulation; D006579:Heterozygote; D037181:Lectins, C-Type / Q000235:genetics*; D008297:Male; D000090323:Mannose Receptor; D037241:Mannose-Binding Lectins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000662:veterinary; D011956:Receptors, Cell Surface / Q000235:genetics*; D011975:Receptors, Mitogen / Q000235:genetics*; D012641:Selection, Genetic; D017422:Sequence Analysis, DNA / Q000662:veterinary
chemical_list: C408294:Endo180; D037181:Lectins, C-Type; D000090323:Mannose Receptor; D037241:Mannose-Binding Lectins; D011956:Receptors, Cell Surface; D011975:Receptors, Mitogen