Sartelet, A., Klingbeil, P., Franklin, C. K., Fasquelle, C., Geron, S., Isacke, C. M., Georges, M., Charlier, C. (2012) Allelic heterogeneity of Crooked Tail Syndrome: result of balancing selection? ANIMAL GENETICS, 43 (5). pp. 604-607. ISSN 0268-9146

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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.

Item Type:	Article
Authors (ICR Faculty only):	Isacke, Clare
All Authors:	Sartelet, A., Klingbeil, P., Franklin, C. K., Fasquelle, C., Geron, S., Isacke, C. M., Georges, M., Charlier, C.
Additional Information:	ISI Document Delivery No.: 999QV Times Cited: 0 Cited Reference Count: 6 Sartelet, A. Klingbeil, P. Franklin, C. K. Fasquelle, C. Geron, S. Isacke, C. M. Georges, M. Charlier, C. Walloon Ministry of Agriculture (Rilouke); Belgian Science Policy Organisation (SSTC Genefunc PAI); University of Liege; Breakthrough Breast Cancer Research Centre We are grateful to Anais Ullens and to the GIGA Genomic Platform for their technical assistance. CC is Senior Research Associate of the Fonds National de la Recherche Scientifique (Belgium). This work was funded by grants from the Walloon Ministry of Agriculture (Rilouke), the Belgian Science Policy Organisation (SSTC Genefunc PAI), the University of Liege and Breakthrough Breast Cancer Research Centre. Wiley-blackwell Hoboken
Uncontrolled Keywords:	Belgian Blue Cattle Crooked Tail Syndrome CTS Endo180 MRC2 mannose receptor lectin receptor endo180
Research teams:	ICR divisions > Breast Cancer Research > Molecular Cell Biology
Depositing User:	Users 11 not found.
Date Deposited:	01 Oct 2012 14:33
Last Modified:	01 Oct 2012 14:33
URI:	http://publications.icr.ac.uk/id/eprint/11944

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