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Chapter2.Geneand第二 Yu-xiangZhang,PhDDepartmentofBiochemistryandE-mail: Chapter2.Geneand第二 Section1.Section2.GenomeandGenomicsSection3.GenomicPolymorphismSection1.Genesarethebasicphysicalandfunctionalunitsofheredity.Eachgeneislocatedonaparticularregionofachromosomeandhasaspecificorderedsequenceofnucleotides.Centraldogmaofmolecularbiology:DNARNAProteinGeneticinformationisstoredinSegmentsofDNAthatencodeproteinsorotherfunctionalproductsarecalledgenes.GenesequencesaretranscribedintomessengerRNAintermediates(mRNA).mRNAintermediatesaretranslatedintoproteinsthatperformmostlifefunctions.geneTheviralgenomecanconsistofaverysmallnumberofgenesoruptohundredsofgenesdependingonthetypeof Notethatthegenomeistypicallyorganizedasalongmoleculethatisusuallystraightorcircular.es: particle,alsoknownasavirion,isessentiallyanucleicacid(DNAorRNA)enclosedinaproteins orcoat. areextremelysmall,approxima y15-25nanometersindiameter.Splitegene:ExonsvsEukaryoticgeneshaveintronsandexons.Exonscontainnucleotidesthataretranslatedintoaminoacidsofproteins.ExonsareseparatedfromoneanotherbyinterveningsegmentsofjunkDNAcalledintrons.Intronsdonotcodeforprotein.TheyareremovedwheneukaryoticmRNAisprocessed.ExonsmakeupthosesegmentsofmRNAthataresplicedbacktogetheraftertheintronsareremoved;theintron-freemRNAisusedasatemplatetomake3ExonsaresequencesofDNAthat3expressedintoCIntronsareinterveningsequencesthatarenottranslatedintoproteinC1212C312C31212C3123ExonsandWhat’sthedifferencebetweenexonsandExonsoftenaredescribedasshortsegmentsofcodingsequence.Thisisabitofanoversimplification.Exonsarethosesegmentsofsequencethataresplicedtogetheraftertheintronshavebeenremovedfromthepre-mRNA.Yes,thecodingsequenceiscontainedinexons,butitispossibleforsomeexonstocontainnocodingsequence.Portionsofexonsorevenentireexonsmaycontainsequencethatisnottranslatedintoaminoacids.ThesearetheuntranslatedregionsorUTRs.UTRsarefoundupstreamanddownstreamoftheprotein-codingWhatisaAlocusdescribestheregionofachromosomewhereageneislocated.11p15.5isthelocusforthehumaninsulingene.11isthechromosomenumber,pindicatestheshortarmofthechromosome,and15.5isthenumberassignedtoaparticularregiononachromosome.Whenchromosomesarestainedinthelab,lightanddarkbandsappear,andeachbandisnumbered.Thehigherthenumber,thefartherawaythebandisfromtheIntergenicregionandRegulatorySection2.Genomeand組 組 組 Thegenomeistheentiretyofanorganism'shereditaryinformation.ItisencodedeitherinDNAor,formanytypes es,inRNA.Thegenomeincludesboththegenesandthenon-codingsequencesoftheDNA/RNA. Genomicsisadisciplinethatapplies sequence,assemble,and yzethefunctionandstructureofgenomes.Fire-belliedsalamander(CynopsOrientalisc-value=32×109唯一可以終生進行斷蠑螈的內(nèi)含子比人類長10Annotationofgenesshowedthataxolotlintronsareonaverage10×longerthanorthologousvertebrateintronsandtheyarepredictedtocontainmorefunctionalelements,includingmiRNAsandsnoRNAs. Genesareonaverage5×largerthanhumangenes,thegeniccomponentofthesalamandergenomeisestimatedtobeincrediblylarge,approximately2.8gigabases!Thisstudyshowsthatalargesalamandergenomehasacorrespondinglylargegeniccomponent,primarilybecausegeneshaveincrediblylongintrons.Theseintronicsequencesmayharbornovelcodingandnon-codingsequencesthatregulatebiologicalprocessesthatareuniquetosalamanders.JeramiahJetal.,GenicregionsofalargeGenomics2009,10:19doi:10.1186/1471-2164-10-genomecontainlongintronsGenomics2009,10:19doi:10.1186/1471-2164-10-組secreted
BaruchBlumberg,1963:‘Australianantigen-Au'.hepatitisB
secreted
1967:Auwasaviralantigen=HBsAg(surfaceantigen)Dane,Discovered'DaneHBcAg(core1973:(endogenousantigen=atruncatedofenveloped(?lipid-containing,detergentdisrupted?)42-47nm doublestrandanRNA-dependentDNApolymerase(i.e.reverseHBVgenometwounevenstrandsof(-)sensestrand: 3.0-(+)sensestrand:1.7TheHBVinfectious
P RNAccc-
Precore,L,M,S+fouropenreadingframes(ORFs):S–C–C+preC–P–X–HBxAg(aStructuralBiologyofDiameterof100-120nmwithasphericalCone-shapedcoresurroundedbylipidmatrixcontainingkeysurfaceViralcorecontains2copiesofgenomicRNA,reversetranscriptase,integraseandproteaseReplicationCycleofGeneorganizationinprokaryoticgenomes Table8.2part1of2Genomes3(?GarlandScienceProkaryoticProkaryoticgenomesaregene-Figure8.6Genomes3(?GarlandScienceNonuclearenvelope.Instead,aFigure8.1Genomes3(?GarlandScienceFigure8.8aGenomes3(?GarlandScienceGenomecanbenaturallycompactedbysupercoilingitFigure8.2Genomes3(?GarlandSciencePlasmidandextra-chromosomalelementscomplicatethequestionofwhatisthegenomeFigure8.5Genomes3(?GarlandScienceTable8.3Genomes3(?GarlandScienceTable8.4Genomes3(?GarlandScienceHorizontalgenetransferisSowhatisaFigure8.10Genomes3(?GarlandScienceEukaryoticorganelle真 Sizeof組大 人Human人 NuclearNuclear33億(330046條線23(XX)or24(XY)linear (24000protein-codinggenes);RNAgenes?長度平均40000bp(1內(nèi)含子1.5%重復序列(RepetitiveDNAsequences重組 binationOrganizationofthehumanOrganizationofthehumanOrganizationofthehuman人 組的組(Nuclearvs.mitochondrial(Gene其它重復序列OtherrepeatedTypesofDNAsequences 為開放閱讀框(openreadingframe,ORF)。 人 組的組成成
OrganizationofthehumanOrganizationofthehuman Functionallysimilargenesareoccasionallyclustered,butusuallydispersedthroughoutthegenome OrganizationoftheOrganizationofthehuman 分布密度差別很HL
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