SnapShot:ImprintedGeneClustersJoanneL.ThorvaldsenandMarisaS.BartolomeiDepartmentofCellandDevelopmentalBiology,UniversityofPennsylvaniaSchoolofMedicine,Philadelphia,PA19104,USAImprintedgeneloci1AssociatedImprintedncRnAsotherAssociatedImprintedgenes2germlinedmRs3Imprintingmechanism4mouselocus/Humanlocus5AssociationwithHumandiseaseorsyndrome6Igf2H19Ins27H19DMD(ICR)CTCF-dependentinsulator7qF5/11p15.5Beckwith-Wiedemannsyndrome,Silver-RussellsyndromeIgf2r8Air8,*Slc22a27,9,Slc22a37,9Airpromoter(ICR)longncRNAtranscription17qA1/6q25.3SnrpnUbe3a-ATS*,snoRNAs10Atp10a,Ube3a7,Snurf,Ndn,Magel2,Mkrn3,Peg12Snrpnpromoterandexon1:PWS-IC(ICR)11longncRNAtranscription?7qB5/15q11.2Prader-Willisyndrome,Angelmansyndrome12Cdkn1cKcnq1ot1*Osbp157,Nap1l47,9,Phlda27,9,Slc22a18,Msuit19,Kcnq17,Cd817,9,Ascl27,9,Tssc47,9Kcnq1ot1promoter:KvDMR1(ICR)longncRNAtranscription7qF5/11q15.4Beckwith-WiedemannsyndromeDlk1Gtl2,anti-Rtl1microRNAs8,RiansnoRNAs8,MirgmicroRNAs8,10Rtl18,Dio3IntergenicDMR:IG-DMR(ICR)ND12qF1/14q32.2Gnas7Nespas,Gnasexon1AGnasxl,NespGnasxlandNespaspromoterDMR(primaryICR),Gnasexon1apromoterDMR(secondaryICR)ND2qH4/20q13.32Albrighthereditaryosteodystrophy,Pseudohypoparathyroidism1a+1b,McCune-AlbrightsyndromePeg3Zim2,Zim114,Usp29,Zim3,Zfp264Peg3promoterandexon1ND7qA1/19q13.43Plagl1(Zac1)7Hymai7,9Hymaiexon1ND10qA2/6q24.2TransientneonataldiabetesmellitusPeg10Sgce,Ppp1r9a7,Asb49Peg10andSgcepromoterND6qA1/7q21.3Myoclonus-dystoniasyndrome13Mest(Peg1)Copg2as8Copg29,Klf14Mest-promoter-exon1ND6qA3.3/7q32.2Rasgrf17,94930524O08Rik7,9−30kbRasgrf1DMR-Repeat(ICR)CTCF-dependentinsulator?9qE3.1/15q25.1Grb107Grb10brainisoform7Grb10CpGIsland2ND11qA1/7p12.2Zrsr1(U2af1-rs1)14Commd17Zrsr1CpGIslandND11qA3.2/5q22.2Xlr3b14Xlr4b14,Xlr4c14NDXqA7.3Xist7,9Tsix7,9longncRNAtranscriptionXqD/Xq13.2XPaternallyexpressedgenesXMaternallyexpressedgenesXDifferentiallymethylatedregions(DMRs)methylatedonthepaternalalleleXDMRsmethylatedonthematernalallele*TranscriptionofncRNAsessentialforimprintingcontrolofthelocus.Themajori...
