Balancing Selection of a Frame-Shift Mutation in the MRC2 Gene Accounts for the Outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle 英文参考文献.docVIP

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Balancing Selection of a Frame-Shift Mutation in the MRC2 Gene Accounts for the Outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle 英文参考文献.doc

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Balancing Selection of a Frame-Shift Mutation in the MRC2 Gene Accounts for the Outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle 英文参考文献

BalancingSelectionofaFrame-ShiftMutationinthe MRC2GeneAccountsfortheOutbreakoftheCrooked TailSyndromeinBelgianBlueCattle CorinneFasquelle1.,ArnaudSartelet1.,WanboLi1¤,MarcDive1,NicoTamma1,CharlesMichaux2 ,Tom Druet1,IvoJ.Huijbers3,ClareM.Isacke3,WouterCoppieters1,MichelGeorges1,CaroleCharlier1* 1Unit of Animal Genomics, GIGA-R, Department of Animal Sciences, Faculty of Veterinary Medicine, University of Lie`ge, Lie`ge, Belgium, 2Unit of Bioinformatics, DepartmentofAnimalSciences,FacultyofVeterinaryMedicine,UniversityofLie`ge,Lie`ge,Belgium,3BreakthroughBreastCancerResearchCentre,TheInstituteofCancer Research,London,UnitedKingdom Abstract Wehereindescribethepositionalidentificationofa2-bpdeletionintheopenreadingframeoftheMRC2receptorcausing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediateddecayofthemutantmessengerRNA,andthevirtualabsenceoffunctionalEndo180proteininaffected 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 associatedwithdesiredcharacteristicsinthegeneralpopulation,includingenhancedmusculardevelopment,andthatthe resulting heterozygote advantage caused a selective sweep which explains the unexpectedly high frequency (25%) of carriersintheBelgianBlueCattleBreed. Citation:FasquelleC,SarteletA,LiW,DiveM,TammaN,etal.(2009)BalancingSelectionofaFrame-ShiftMutationintheMRC2GeneAccountsfortheOutbreak oftheCrookedTailSyndromeinBelgianBlueCattle.PLoSGenet5(9):e1000666.doi:10.1371/journal.pgen.1000666 Editor:GregoryS.Barsh,StanfordUniversitySchoolofMedicine,UnitedStatesofAmerica ReceivedMay19,2009;AcceptedAugust27,2009;PublishedSeptember25,2009 Copyright: ? 2009 Fasquelle et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestric