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: SEQUENCE       TheHumanGenomeInitiativeisaworldwideresearcheffortthathasthegoalofanal dedbyresearcheffortsthatarefocussedonunderstandingandtakingadvantageof hehumangenome.Theinformationgeneratedbythehumangenomeprojectisexpected hemaximalbenefitofthehumangenomeprojectwillonlybeachievedifitissurroun idethecomparativeinformationnecessaryforunderstandingthefunctioningoft inningtounderstandtheunderlyingmolecularmechanisms.Theanalysisandinter osesuchasdevelopmentalbiologyandneurobiology,wherescientistsarejustbeg parallelwiththiseffort,theDNAofasetofmodelorganismswillbestudiedtoprov pretationoftheinformationwilloccupyscientistsformanyyearstocome.Thus,t tobethesourcebookforbiomedicalscienceinthe21stcentury.Itwillhaveaprofo undimpactonandexpediteprogressinavarietyofbiologicalfields,includingth yzingthestructureofhumanDNAanddeterminingthelocationofallhumangenes.In thehumangeneticinformation. TTT F Phe TCT S Ser TAT Y Tyr TGT C Cys TTC F Phe TCC S Ser TAC Y Tyr TGC C Cys TTA L Leu TCA S Ser TAA * Ter TGA W Trp TTG L Leu TCG S Ser TAG * Ter TGG W Trp CTT T Thr CCT P Pro CAT H His CGT R Arg CTC T Thr CCC P Pro CAC H His CGC R Arg CTA T Thr CCA P Pro CAA Q Gln CGA R Arg CTG T Thr CCG P Pro CAG Q Gln CGG R Arg ATT I Ile ACT T Thr AAT N Asn AGT S Ser ATC I Ile ACC T Thr AAC N Asn AGC S Ser ATA M Met ACA T Thr AAA K Lys AGA R Arg ATG M Met i ACG T Thr AAG K Lys AGG R Arg GTT V Val GCT A Ala GAT D Asp GGT G Gly GTC V Val GCC A Ala GAC D Asp GGC G Gly GTA V Val GCA A Ala GAA E Glu GGA G Gly GTG V Val GCG A Ala GAG E Glu GGG G Gly Thehumangenomeprojectisexpectedtobeofimmensebenefittomedicalscience.It dtheenvironmentalsciences.Theywillbevaluableforassessingtheeffectsofra diationandotherenvironmentalfactorsonhumangeneticmaterial.Itisanticipa eneticpredispositionplaysanimportantrole.Newtechnologiesemanatingfromt edataandthetechniquesdevelopedbythehumangenomeprogramandwilldevelopman fewyears,DNAsequenceinformationwillundoubtedlybeamajortoolinmostareaso hegenomeprojectwillalsofindapplicationinotherfieldssuchasagriculturean seasesthatafflictmankind,aswellasthemanymultifactorialdiseasesinwhichg tedthattheprivatesectorwillderivegreatbenefitfromthetrainedmanpower,th willhelpustounderstandandeventuallytreatmanyofthemorethan4000geneticdi yusefulapplicationscationsbasedonthenewknowledgethatisproduced.Withina fbasicandappliedbiologicalresearch. AUA Met M Ile I CUU Thr T Leu L CUC Thr T Leu L CUA Thr T Leu L CUG Thr T Leu L UGA Trp W Ter * CGA absent Arg R CGC absent Arg R Asaresultoftheenormousstridesinbasicresearchonmolecularandmedicalgenet entatwhichsuchaprojectcanrealisticallybecontemplated.Becauseofthefarsi ghtedtedinvestmentinbasicresearchbythefederalgovernmentoverthistimeper icsinthelastthirtytofortyyears,technologyhasadvancedtoastageofdevelopm iod,theUnitedStatesisclearlytheleaderinthisfield.Pursuitofthehumangeno meprojectwillallowtheU.S.toremainattheforefrontofbiomedicalscienceandt otrainthescientificmanpowerthatwillbeabletotakeadvantageoftheimmenseop portunitiesforresearchandinnovationthatwillemanatefromthisproject. GCAGCGTGGATGGGAAGTAA CTCTCTGCCTCGCCTCTTC 214 TGAGCTGCCTGCGTCCTCTCGGTGAGCTGTGCAGTGCCGGCCCCAGATCCTCACACC CAGGGAGCAGCTGCA CATCGTGAAAGACTGAGGCAGCGTGGATGGGAAGTAAACGCTTCCAGAGGAACTCAG AAAAAATTATGTGCC ^^^^^^^^^^^^^^^^^^^^ AGTGAAAGTGTTTGGACAAAAACTACATGATCTCAAAATGCACGTGGATGTGAGACA CAAAAGTTGACAAAA TGGAAAAGCAATGTGTTTGAACAATTGCGAATTCTCTCTGCCTCGCCTCTTCCACTG GATTAATTTTCACCG ^^^^^^^^^^^^^^^^^^^ CCCCTATCTTGTCCGTGTGGGCACACACTGAGTGTTGAGTTGCCGTGTGGAGTTAAT GTATGACGCTCCACT GTGGATATCTAATGCCCTGTTGAGAGTAGCCTTGCTCAGTACTAAAATGCCCCAAAG TTCTATACAGCATTT CCTTTATAGCATTCAAACCTCACATCCTCCCTTCAGTTTAATGCAAGTAAGTCAGGT TTCACAAGAAAATTT TCAAGTTTTGAAGGGAATTTGAGGTTGATCTGGTTTTCAAGATGTAGTTAAAGGAAT AAATCACTCAAAATT AAACTTTCTGTATATAGTCAATAAGCAATAAAAACCTCATTTTTCAGAGTTAAAAAA Thepossibilityofinitiatingsuchamajorandsignificantresearchprogramwasex A)reportpresentedacomprehensiveanddetailedanalysisofthescientificdevel Inearly1988,furtherdiscussionculminatedinthepublicationoftwoadditional esuchaproject.TheNationalResearchCouncil(NRC)reportrecommendedthattheU eresearchplanforaccomplishingthegoalofsequencinghumanDNAoverthecourseo fthefollowingtwodecades.AreporttotheDirectorofNIHbytheAdHocAdvisoryCom gof1987,aReportontheHumanGenomeInitiativewaspreparedbytheHealthandEnvi mitteeonComplexGenomes,alsopreparedin1988,essentiallyconcurredwiththeN nitedStatessupporttheresearcheffortandpresentedanoutlineforamulti-phas opmentsthathadledtothepromiseofactuallybeingableto"mapandsequence"theh ronmentalResearchAdvisoryCommittee(HERAC)oftheDepartmentofEnergy(DOE). tensivelydiscussedinthescientificcommunityduring1986and1987.Inthesprin umangenomeandpresentedanumberofoptionsastohowtheUnitedStatesmightpursu widelycirculated,influentialreports.TheOfficeofTechnologyAssessment(OT RCReport. Data Vector 1 1 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 1 0 0 0 0 1 1 0 0 0 0 0 1 1 1 0 1 1 0 0 1 0 0 1 1 0 1 0 0 0 0 0 0 1 1 1 0 0 0 0 1 1 1 0 1 1 0 0 1 0 0 1 0 0 0 2 0 1 0 0 0 0 2 0 1 InFiscalYear1988,theCongressoftheUnitedStateslaunchedthehumangenomepro ,areportontheoptimalstrategyfortheconductofthehumangenomeprogram.TheFY 1990HouseAppropriationsCommitteereportalsoaskedtheNIHforacomprehensive HandtheDOE.Theagenciesplantorevisetheplanapproximatelyannually,basedon InstitutesofHealth(NIH)specificallyforsupportofresearcheffortstodeterm eyearperiod.Becausethetwoagencieshavebeencollaboratingcloselyforthelas inetheestructureofcomplexgenomes.InthereportaccompanyingtheSenateappro jectbyappropriatingfundstoboththeDepartmentofEnergy(DOE)andtheNational nsetothoserequests,thepresentreportcontainsasummaryoftheprogressthatha priationsbillforFY1989,theCongressrequestedtheNIHtoprepare,byearly1990 portsandpresentsaplanforthehumangenomeprogram,withemphasisonthenextfiv spendingplanbythetimeoftheFY1991appropriationshearings.Preparedinrespo sbeenmadeinthefieldofgenomeresearchsincethepreparationoftheOTAandNRCre ttwoyearsinthemanagementoftheprogram,thisplanwaspreparedjointlybytheNI thelatestscientificdevelopments.         FIVE SIX SEVEN EIGHT NINE ONE TWO THREE FOUR C H R O M O S O M E 1 3