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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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