Mutations in the SLC2A9 Gene Cause Hyperuricosuria and Hyperuricemia in the Dog 英文参考文献.docVIP

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Mutations in the SLC2A9 Gene Cause Hyperuricosuria and Hyperuricemia in the Dog 英文参考文献.doc

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Mutations in the SLC2A9 Gene Cause Hyperuricosuria and Hyperuricemia in the Dog 英文参考文献

MutationsintheSLC2A9GeneCauseHyperuricosuria andHyperuricemiaintheDog DanikaBannasch1*,NoaSafra1,AmyYoung1,NiliKarmi1,R.S.Schaible2,G.V.Ling3 1Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, California, United States of America, 2Department of Veterinary Clinical Sciences, School of Veterinary Medicine, Purdue University, West Lafayette, Indiana, United States of America, 3Department of MedicineandEpidemiology,SchoolofVeterinaryMedicine,UniversityofCaliforniaDavis,Davis,California,UnitedStatesofAmerica Abstract Allantoinistheendproductofpurinecatabolisminallmammalsexcepthumans,greatapes,andonebreedofdog,the Dalmatian.HumansandDalmatiandogsproduceuricacidduringpurinedegradation,whichleadstoelevatedlevelsofuric acid in blood and urine and can result in significant diseases in both species. The defect in Dalmatians results from inefficienttransportofuricacidinboththeliverandrenalproximaltubules.Hyperuricosuriaandhyperuricemia(huu)isa simpleautosomalrecessivetraitforwhichallDalmatiandogsarehomozygous.Therefore,inordertomapthelocus,an interbreed backcross was used. Linkage mapping localized the huu trait to CFA03, which excluded the obvious urate transporter1gene,SLC22A12.Positionalcloningplacedthelocusinaminimalintervalof2.5MbwithaLODscoreof17.45. A critical interval of 333kb containing only four genes was homozygous in all Dalmatians. Sequence and expression analysesoftheSLC2A9geneindicated threepossible mutations, amissensemutation(G616T;C188F) andtwopromoter mutationsthattogetherappeartoreducetheexpressionlevelsofoneoftheisoforms.Themissensemutationisassociated withhyperuricosuriaintheDalmatian,whilethepromoterSNPsoccurinotherunaffectedbreedsofdog.Verificationofthe causative nature of these changes was obtained when hyperuricosuric dogs from several other breeds were found to possessthesamecombinationofmutationsasfoundintheDalmatian.TheDalmatiandogmodelofhyperuricosuriaand hyperuricemiaunde