Their high mutation rate provides the basis for the successful use of microsatellites as genetic markers Exceptionally long microsatellites have been found to be associated with certain human genetic diseases Introduction Tandemly repeated short seq ID: 23148
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MicrosatelliteInstabilityChristianSchloVeterinaryUniversityofVienna,Vienna,AustriaBettinaHarr,VeterinaryUniversityofVienna,Vienna,AustriaMicrosatellitesareaubiquitouscomponentofthegenomeofhigherorganisms.Theirhighmutationrateprovidesthebasisforthesuccessfuluseofmicrosatellitesasgeneticmarkers.Exceptionallylongmicrosatelliteshavebeenfoundtobeassociatedwithcertainhumangeneticdiseases. ArticleContents Introductoryarticle GenomicDistributionMutationalProcessandRatesFactorsDeterminingMicrosatelliteStabilityExpandedTrinucleotideRepeatsASpecialClassofPhenotypicConsequencesofMicrosatellite ENCYCLOPEDIAOFLIFESCIENCES/2001NaturePublishingGroup/www.els.net MutationalProcessandRates$' - $ # + ' 4 # Figure2 5 , # ' 4 # Figure2 + # ' 4 ' .# ) $ ' # ' & $ ' $ ! #! , $ # .# , $ * * #' ' ' 7 # , ' , .# ' , $ #' 2 , # # , # # $ # CTGCTGCTGCTGCTGCTG GACGACGACGACGACGACGACGACGACGAC CTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG GACGACGACGACGACGACGACGACGACGAC CTGCTGCTGCTGCTGCTGCTG GACGACGACGACGACGACGACGACGACGAC CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG GACGACGACGACGACGACGACGACGACGAC CTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG GACGACGACGACGACGACGACGACGACGACGAC +DNA slippage CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG GACGACGACGACGACGACGACGACGACGAC CTGCTGCTGCTGCTGCTGCTG GACGACGACGACGACGACGACGACGACGAC CTGCTGCTGCTGCTGCTGCTGCTGCTG GACGACGACGACGACGACGACGACGAC GAC CTGCTGCTGCTGCTGCTG GACGACGACGACGACGACGACGACGAC GAC CTG CTGCTGCTGCTGCTGCTGCTGCTGCTG GACGACGACGACGACGACGACGACGAC Figure2Modelofdeoxyribonucleicacid(DNA)slippage,(a)addingor(b)removingonerepeatunit.(1)FirstroundofDNAreplication.(2)DNAslippage,causingonerepeatunittoloopout(thedirectionofDNAslippageisindicatedingreen).(3)DNAsynthesiscontinueswithoutrepairofthel(4)SecondroundofDNAreplicationleadstoadditionordeletionofonerepeatunitinoneoftheDNAstrands. MicrosatelliteInstabilityENCYCLOPEDIAOFLIFESCIENCES/2001NaturePublishingGroup/www.els.net FactorsDeterminingMicrosatellite( , , 1 # 4 1 ( 4 + ' & 3# 8 #$# $ $ ,1 - 23 , $ExpandedTrinucleotideRepeatsSpecialClassofMicrosatellites?!, , + ,# , # % 3 + , ' , 9 Figure3 ' ' ) /0/) )//0/)) .# # - /0) ' :* #:*;* ) /0/) /, , ' # 4 ) # ' , $ % # ' 4 1 $# ', # ' 4 ' 5 , # ,, ' 4 # #,, Figure3 .# ,, &#x ;&#x=-;Ɖ.;က % # ', # 1 4 343 #2 87 , ; ' ; ' 343 " , ' 343 $ 87 ' 1 , , , Figure4PhenotypicConsequencesofMicrosatelliteExpansions+ ' , $ 7 # ', # $ (4) (3) (2) (1) Figure3Deoxyribonucleicacid(DNA)slippagemodelfortheexpansionofatrinucleotiderepeat.(1)FirstroundofDNAreplication.(2)TransientdissociationofDNAstrands.(3)DNAslippageandhairpinformation.(4)DNAreplicationcontinues.(5)ExpandedrepeataftersecondroundofDNAreplication. MicrosatelliteInstabilityENCYCLOPEDIAOFLIFESCIENCES/2001NaturePublishingGroup/www.els.net ' , 1 ) $ 1 , #' , ' $ + # $ # ' 1 ' 1 ! . #? , $ #' ) /0/) 1 , , ' ,# @A - # )/$ ' )//0/)) #' & ' )/0/ ) : 3 " #1 UseofMicrosatelliteInstabilitiesasGeneticMarkers( , , 3 # � # , 3 & 1 .#()" % ' 4 , B $1 , , ' , # , #$ , 3 ) # # # # $ )! 8 4 8 ' 8 5- &? , FurtherReading/ 5(3 DDE F G ,' G::;:H6/ ! ) DDD G I, ( 7 . 6*** & G , G;;;;J ) DDJ +G.4" ! " !!#6# 6:E6 G I, ( )( A DDJ ,'+G !"! ' 5 !! # ! ! # EJ5 G5 3 ) 6*** 7, G:;:E (4) (3) FEN1 Figure4Okazakifragmentprocessionmodel.(1)Firstroundofdeoxyribonucleicacid(DNA)replication(synthesisofthelaggingstrand).(2)OkazakifragmentdisplacementbyDNApolymerase(theOkazakifragmentismarkedwithanasterisk).(3)DNAslippageandhairpinformationofthetrinucleotiderepeatlocatedintheOkazakifragment.Thehairpinisresistanttoflapendonuclease(FEN)1processing.(4)UpstreamanddownstreamOkazakifragmentsarejoined.(5)ExpandedrepeataftersecondroundofDNAreplication. MicrosatelliteInstabilityENCYCLOPEDIAOFLIFESCIENCES/2001NaturePublishingGroup/www.els.net