Allelic heterogeneity of Crooked Tail Syndrome: result of balancing selection?

Article

Auteur : Sartelet, Arnaud ; Klingbeil, P. ; Franklin, C.K. ; Fasquelle, Corinne ; Géron, Sarah ; Isacke, Clare M. ; Georges, Michel ; Charlier, Carole

Revue : Animal genetics

Date : 2012

Pagination : 43(5) : 604-607

Cote : Genetique-228 (R)

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.

Url / Doi : https://doi.org/10.1111/j.1365-2052.2011.02311.x

Localisation : Env Alfort (Bibliothèque)

Collection : Génétique Moléculaire

Type de fond : Fonds dématérialisé