PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse 英文参考文献.docVIP

PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse 英文参考文献.doc

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PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse 英文参考文献

PRTFDC1IsaGeneticModifierofHPRT-Deficiencyinthe Mouse AlaineC.Keebaugh1.,HeatherA.Mitchell2.,MeriemGaval-Cruz2,KimberlyG.Freeman3,GaylenL. Edwards3,DavidWeinshenker2,JamesW.Thomas2* 1YerkesNationalPrimateResearchCenter,Atlanta,Georgia,UnitedStatesofAmerica,2DepartmentofHumanGenetics,EmoryUniversitySchoolofMedicine,Atlanta, Georgia,UnitedStatesofAmerica,3DepartmentofPhysiologyandPharmacology,UniversityofGeorgia,Atlanta,Georgia,UnitedStatesofAmerica Abstract Lesch-Nyhan disease (LND) is a severe X-linked neurological disorder caused by a deficiency of hypoxanthine phosphoribosyltransferase(HPRT).Incontrast,HPRT-deficiencyinthemousedoesnotresultintheprofoundphenotypes such as self-injurious behavior observed in humans, and the genetic basis for this phenotypic disparity between HPRT- deficienthumansandmiceisunknown.TotestthehypothesisthatHPRTdeficiencyismodifiedbythepresence/absenceof phosphoribosyltransferasedomaincontaining1(PRTFDC1),aparalogofHPRTthatisafunctionalgeneinhumansbutan inactivatedpseudogeneinmice,wecreatedtransgenicmicethatexpresshumanPRTFDC1inwild-typeandHPRT-deficient backgrounds.MalemiceexpressingPRTFDC1oneithergeneticbackgroundwereviableandfertile.However,thepresence of PRTFDC1 in the HPRT-deficient, but not wild-type mice, increased aggression as well as sensitivity to a specific amphetamine-induced stereotypy, both of which are reminiscent of the increased aggressive and self-injurious behavior exhibited by patients withLND. Theseresults demonstrate that PRTFDC1 is ageneticmodifier ofHPRT-deficiency in the mouseandcouldthereforehaveimportantimplicationsforunravelingthemolecularetiologyofLND. Citation:KeebaughAC,MitchellHA,Gaval-CruzM,FreemanKG,EdwardsGL,etal.(2011)PRTFDC1IsaGeneticModifierofHPRT-DeficiencyintheMouse.PLoS ONE6(7):e22381.doi:10.1371/journal.pone.0022381 Editor:ReinerAlbertVeitia,InstitutJacquesMonod,France ReceivedMay4,2011;AcceptedJune20,2011;PublishedJuly27,2011 Copyright: ? 2011 Keebaugh et al. This is an open-access article d

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