DIA1R Is an X-Linked Gene Related to Deleted In Autism-1 英文参考文献.docVIP

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DIA1R Is an X-Linked Gene Related to Deleted In Autism-1 英文参考文献.doc

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DIA1R Is an X-Linked Gene Related to Deleted In Autism-1 英文参考文献

DIA1RIsanX-LinkedGeneRelatedtoDeletedIn Autism-1 AzhariAziz,SeanP.Harrop¤,NaomiE.Bishop* DepartmentofMicrobiology,LaTrobeUniversity,Bundoora,Victoria,Australia Abstract Background: Autism spectrum disorders (ASDs) are frequently occurring disorders diagnosed by deficits in three core functionalareas:socialskills,communication,andbehavioursand/orinterests.Mentalretardationfrequentlyaccompanies themostsevereformsofASDs,whileoverallASDsaremorecommonlydiagnosedinmales.MostASDshaveageneticorigin andonegenerecentlyimplicatedintheetiologyofautismistheDeleted-In-Autism-1(DIA1 )gene. Methodology/PrincipalFindings:Usingabioinformatics-basedapproach,wehaveidentifiedahumangenecloselyrelated toDIA1,wetermDIA1R (DIA1-Related).WhileDIA1isautosomal (chromosome3,position3q24), DIA1R localizestotheX chromosomeat position Xp11.3andis knownto escape X-inactivation.The geneproducts areof similar size,with DIA1 encoding430,andDIA1R433,residues.Attheaminoacidlevel,DIA1andDIA1Rare62%similaroverall(28%identical),and bothencodesignalpeptidesfortargetingtothesecretorypathway.Bothgenesareubiquitouslyexpressed,includingin fetalandadultbraintissue. Conclusions/Significance: Examination of published literature revealed point mutations in DIA1R are associated with X- linked mental retardation (XLMR) and DIA1R deletion is associated with syndromes with ASD-like traits and/or XLMR. Together,theseresultssupportamodelwheretheDIA1andDIA1Rgeneproductsregulatemoleculartrafficthroughthe cellularsecretorypathwayoraffectthefunctionofsecretedfactors,andfunctionaldeficitscausedisorderswithASD-like symptomsand/ormentalretardation. Citation:AzizA,HarropSP,BishopNE(2011)DIA1RIsanX-LinkedGeneRelatedtoDeletedInAutism-1.PLoSONE6(1):e14534.doi:10.1371/journal.pone.0014534 Editor:Jo¨rgHoheisel,DeutschesKrebsforschungszentrum,Germany ReceivedJuly21,2010;AcceptedDecember21,2010;PublishedJanuary17,2011 Copyright:?2011Azizetal.Thisisanopen-accessarticledistributedunderthetermsoftheCreativeCommonsAttributionLicense