期刊
ANIMAL GENETICS
卷 43, 期 5, 页码 604-607出版社
WILEY-BLACKWELL
DOI: 10.1111/j.1365-2052.2011.02311.x
关键词
Belgian Blue Cattle; Crooked Tail Syndrome; CTS; Endo180; MRC2
资金
- Walloon Ministry of Agriculture (Rilouke)
- Belgian Science Policy Organisation (SSTC Genefunc PAI)
- University of Liege
- Breakthrough Breast Cancer Research Centre
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.
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