Reference : Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/27252
Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle.
English
Fasquelle, Corinne* mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Sartelet, Arnaud* mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Li, Wanbo [Key Laboratory for Animal Biotechnology of Jiangxi Province and the Ministry of Agriculture of China > > > >]
Dive, Marc [> > > >]
Tamma, Nico mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Michaux, Charles mailto [Université de Liège - ULg > Département de productions animales > Biostatistique, économie, sélection animale >]
Druet, Tom mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Huijbers, Ivo J [The Institute of Cancer Research, London > Breakthrough Breast Cancer Research Centre > > >]
Isacke, Clare M [The Institute of Cancer Research, London > Breakthrough Breast Cancer Research Centre > > >]
Coppieters, Wouter mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale > >]
Georges, Michel mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
Charlier, Carole mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
* These authors have contributed equally to this work.
2009
PLoS Genetics
Public Library of Science
5
9
e1000666
Yes (verified by ORBi)
International
1553-7390
1553-7404
San Francisco
CA
[en] We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the virtual absence of functional Endo180 protein in affected animals. Cases exhibit skeletal anomalies thought to result from impaired extracellular matrix remodeling during ossification, and as of yet unexplained muscular symptoms. We demonstrate that carrier status is very significantly associated with desired characteristics in the general population, including enhanced muscular development, and that the resulting heterozygote advantage caused a selective sweep which explains the unexpectedly high frequency (25%) of carriers in the Belgian Blue Cattle Breed.
Breakthrough Breast Cancer Research Centre
Région wallonne : Direction générale de l'Agriculture - DGA ; Belgian Science Policy Organisation ; University of Liège ; Fonds de la Recherche Scientifique (Communauté française de Belgique) - F.R.S.-FNRS
Rilouke:
Researchers ; Professionals
http://hdl.handle.net/2268/27252
10.1371/journal.pgen.1000666
http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000666

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