No Evidence for Strong Recent Positive Selection Favoring the 7 Repeat Allele of VNTR in the DRD4 Gene 英文参考文献.docVIP

NoEvidenceforStrongRecentPositiveSelection Favoringthe7RepeatAlleleofVNTRintheDRD4Gene IzumiNaka1,NaoNishida2,3,JunOhashi1* 1DoctoralPrograminBiomedicalSciences,GraduateSchoolofComprehensiveHumanSciences,UniversityofTsukuba,Ibaraki,Japan,2DepartmentofHumanGenetics, GraduateSchoolofMedicine,TheUniversityofTokyo,Bunkyo-ku,Tokyo,Japan,3ResearchCenterforHepatitisandImmunology,InternationalMedicalCenterofJapan KonodaiHospital,Ichikawa,Chiba,Japan Abstract The human dopamine receptor D4 (DRD4) gene contains a 48-bp variable number of tandem repeat (VNTR) in exon 3, encodingthethirdintracellularloopofthisdopaminereceptor.TheDRD47Rallele,whichseemstohaveasingleorigin,is commonlyobservedinvarioushumanpopulationsandthenucleotidediversityoftheDRD47RhaplotypeattheDRD4locus is reduced compared to the most common DRD4 4R haplotype. Based on these observations, previous studies have hypothesizedthatpositiveselectionhasactedontheDRD47Rallele.However,thedegreesoflinkagedisequilibrium(LD)of theDRD47Rallelewithsinglenucleotidepolymorphisms(SNPs)outsidetheDRD4locushavenotbeenevaluated.Inthis study,tore-examinethepossibilityofrecentpositiveselectionfavoringtheDRD47Rallele,wegenotypedHapMapsubjects for DRD4 VNTR, and conducted several neutrality tests including long range haplotype test and iHS test based on the extendedhaplotypehomozygosity.OurresultsindicatedthatLDoftheDRD47RallelewasnotextendedcomparedtoSNP alleles with the similar frequency. Thus, we conclude that the DRD4 7R allele has not been subjected to strong recent positiveselection. Citation: Naka I, Nishida N, Ohashi J(2011) NoEvidencefor Strong Recent PositiveSelectionFavoring the 7Repeat Allele ofVNTR in the DRD4 Gene. PLoS ONE6(8):e24410.doi:10.1371/journal.pone.0024410 Editor:LluisQuintana-Murci,InstitutPasteur,France ReceivedFebruary28,2011;AcceptedAugust10,2011;PublishedAugust31,2011 Copyright: ? 2011 Naka et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, w