A Missense Mutation in PPARD Causes a Major QTL Effect on Ear Size in Pigs 英文参考文献.docVIP

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A Missense Mutation in PPARD Causes a Major QTL Effect on Ear Size in Pigs 英文参考文献.doc

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A Missense Mutation in PPARD Causes a Major QTL Effect on Ear Size in Pigs 英文参考文献

AMissenseMutationinPPARDCausesaMajorQTLEffect onEarSizeinPigs JunRen,YanyuDuan,RuiminQiao,FeiYao,ZhiyanZhang,BinYang,YuanmeiGuo,ShijunXiao, RongxinWei,ZixuanOuyang,NengshuiDing,HuashuiAi,LushengHuang* KeyLaboratoryforAnimalBiotechnologyofJiangxiProvinceandtheMinistryofAgricultureofChina,JiangxiAgriculturalUniversity,Nanchang,China Abstract Chinese Erhualianis the mostprolific pig breedin theworld. Thebreed exhibits exceptionally largeandfloppy ears. To identify genes underlying this typical feature, we previously performed a genome scan in a large scale White Duroc6 ErhualiancrossandmappedamajorQTLforearsizetoa2-cMregiononchromosome7.Wehereinperformedanidentical- by-descentanalysisthatdefinedtheQTLwithina750-kbregion.Historically,thelarge-earfeaturehasbeenselectedforthe ancientsacrificialcultureinErhualianpigs.Byusingaselectivesweepanalysis,wethenrefinedthecriticalregiontoa630- kbintervalcontaining9annotatedgenes.Fourofthe9genesareexpressedineartissuesofpiglets.Ofthe4genes,PPARD stood out as the strongest candidate gene for its established role in skin homeostasis, cartilage development, and fat metabolism.NodifferentialexpressionofPPARDwasfoundineartissuesatdifferentgrowthstagesbetweenlarge-eared Erhualianandsmall-earedDurocpigs.WefurtherscreenedcodingsequencevariantsinthePPARDgeneandidentifiedonly onemissensemutation(G32E)inaconservedfunctionallyimportantdomain.Theprotein-alteringmutationshowedperfect concordance(100%)withtheQTLgenotypesofall19founderanimalssegregatingintheWhiteDuroc6Erhualiancross and occurred at high frequencies exclusively in Chinese large-eared breeds. Moreover, the mutation is of functional significance;itmediatesdown-regulationofb-cateninanditstargetgeneexpressionthatiscrucialforfatdepositioninskin. Furthermore, the mutation was significantly associated with ear size across the experimental cross and diverse outbred populations.AworldwidesurveyofhaplotypediversityrevealedthatthemutationeventisofChineseorigin,likelyafter domestication.Taken