A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote Dogs 英文参考文献.docVIP

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A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote Dogs 英文参考文献.doc

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A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote Dogs 英文参考文献

AMutationintheMyostatinGene IncreasesMuscleMassandEnhances RacingPerformanceinHeterozygoteDogs Dana S.Mosher1,Pascale Quignon1,Carlos D.Bustamante2,Nathan B.Sutter1,Cathryn S.Mellersh3,Heidi G.Parker1, Elaine A.Ostrander1* 1 National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, 2 Department of Biological Statistics and ComputationalBiology,CornellUniversity,Ithaca,NewYork,UnitedStatesofAmerica,3AnimalHealthTrust,CenterforPreventiveMedicine,Newmarket,UnitedKingdom Doublemusclingisatraitpreviouslydescribedinseveralmammalianspeciesincludingcattleandsheepandiscaused bymutationsinthemyostatin(MSTN)gene(previouslyreferredtoasGDF8).HerewedescribeanewmutationinMSTN foundinthewhippetdogbreedthatresultsinadouble-muscledphenotypeknownasthe‘‘bully’’whippet.Individuals withthisphenotypecarrytwocopiesofatwo-base-pairdeletioninthethirdexonofMSTNleadingtoaprematurestop codonataminoacid313.Individualscarryingonlyonecopyofthemutationare,onaverage,moremuscularthanwild- typeindividuals(p?7.43310à6;Kruskal-WallisTest)andaresignificantlyfasterthanindividualscarryingthewild- typegenotypeincompetitiveracingevents(Kendall’snonparametricmeasure,s?0.3619;p’0.00028).Theseresults highlighttheutilityofperformance-enhancingpolymorphisms,markingthefirsttimeamutationinMSTNhasbeen quantitativelylinkedtoincreasedathleticperformance. Citation: Mosher DS, Quignon P, Bustamante CD, Sutter NB, Mellersh CS, et al. (2007) A mutation in the myostatin gene increases muscle mass and enhances racing performanceinheterozygotedogs.PLoSGenet3(5):e79.doi:10.1371/journal.pgen.0030079 for possible mutations resulting in the ‘‘bully’’ whippet phenotype. Introduction The wide variety of behaviors and morphological types exhibited among dog breeds and the overall low genetic diversitywithineachbreedmakethedoganexcellentgenetic Results MSTNGenotypesintheWhippet Wesequencedthethreeexonsandthemajorityofintrons of the MSTN gene in an initial set of 22