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Gene
FromWikipedia,thefreeencyclopedia

Ageneisthemolecularunitofheredityofaliving
organism.Itisusedextensivelybythescientific
communityasanamegiventosomestretchesof
deoxyribonucleicacids(DNA)andribonucleicacids
(RNA)thatcodeforapolypeptideorforanRNAchain
thathasafunctionintheorganism.Livingbeingsdepend
ongenes,astheyspecifyallproteinsandfunctionalRNA
chains.Genesholdtheinformationtobuildandmaintain
anorganism'scellsandpassgenetictraitstooffspring.
Allorganismshavegenescorrespondingtovarious
biologicaltraits,someofwhichareinstantlyvisible,such
aseyecolorornumberoflimbs,andsomeofwhichare
not,suchasbloodtype,increasedriskforspecific
diseases,orthethousandsofbasicbiochemicalprocesses
thatcompriselife.Thewordgeneisderivedfromthe
Greekwordgenesismeaning"birth",orgenosmeaning
"origin"(seepangenesis).

Thisstylisticdiagramshowsageneinrelationto
thedoublehelixstructureofDNAandtoa
chromosome(right).ThechromosomeisX
shapedbecauseitisdividing.Intronsareregions
oftenfoundineukaryotegenesthatareremoved
inthesplicingprocess(aftertheDNAis
transcribedintoRNA):Onlytheexonsencodethe
protein.Thediagramlabelsaregionofonly55or
sobasesasagene.Inreality,mostgenesare
hundredsoftimeslonger.

Amodernworkingdefinitionofageneis"alocatable
regionofgenomicsequence,correspondingtoaunitof
inheritance,whichisassociatedwithregulatoryregions,
transcribedregions,andorotherfunctionalsequence
regions".[1][2]Colloquialusageofthetermgene(e.g.,
"goodgenes","haircolorgene")mayactuallyrefertoan
allele:ageneisthebasicinstructionasequenceof
nucleicacids(DNAor,inthecaseofcertainvirusesRNA),whileanalleleisonevariantofthatgene.
Thus,whenthemainstreampressrefersto"having"a"gene"foraspecifictrait,thisiscustomarily
inaccurate.Inmostcases,allpeoplewouldhaveageneforthetraitinquestion,althoughcertainpeoplewill
haveaspecificalleleofthatgene,whichresultsinthetraitvariant.Further,genescodeforproteins,which
mightresultinidentifiabletraits,butitisthegene(genotype),notthetrait(phenotype),whichisinherited.
Biggenesareaclassofgeneswhosenucleartranscriptspans500kb(1kb=1,000basepairs)ormoreof
chromosomalDNA.Thelargestofthebiggenesisthegenefordystrophin,whichspans2.3Mb.Manybig
geneshavemodestlysizedmRNAstheexonsencodingtheseRNAstypicallyencompassabout1%ofthe
totalchromosomalgeneregioninwhichtheyoccur.

Contents
1History
2Mendelianinheritanceandclassicalgenetics
3Physicaldefinitions
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3.1RNAgenesandgenomesintheworld
3.2Functionalstructureofagene
3.3Chromosomes
4Geneexpression
4.1Geneticcode
4.2Transcription
4.3Translation
5DNAreplicationandinheritance
5.1Molecularinheritance
6Mutation
7Genome
7.1Chromosomalorganization
7.2Numberofgenes
7.3Geneticandgenomicnomenclature
7.4Essentialgenes
8Evolutionaryconceptofagene

Thechemicalstructureofafourbasefragmentof
aDNAdoublehelix.

9Genetargetingandimplications
10Changingconcept
11Seealso
12Notesandreferences
13Bibliography
14Externallinks

History
TheexistenceofgeneswasfirstimpliedfromtheworkofGregor
Mendel(18221884),who,betweentheyearsof1857to1864planted
8000commonediblepeaplantsandstudiedandtabulatedthe
inheritancepatternsinpeaplants(Pisum)trackinginheritanceoftraits
fromparenttooffspringanddescribingthesemathematicallyas2n
combinationswherenisthenumberofdifferingcharacteristicsinthe
originalpeas.Althoughhedidnotusethetermgene,heexplainedhis
resultsintermsofinheritedcharacteristics.Thenotionofagene[3]is
evolvingwiththescienceofgenetics,butbeganwhenMendelnoticed
thatbiologicalvariationsareinheritedfromparentorgrandparent
organismsasspecific,discretetraitsandaretransmittedthusunaltered
fromtheoriginalsource.PriortoMendel'swork,thedominanttheory
ofhereditywasoneofblendinginheritance,pangenesis,which
suggestedthateachparentcontributedfluidstothefertilisationprocess
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andthatinmeiosisthetraitsoftheparentsblendedandmixedtoproducetheoffspring.AlthoughMendel's
workwaslargelyunrecognizedafteritsfirstpublicationin1866,itwas'rediscovered'in1900bythree
Europeanscientists,HugodeVries,CarlCorrens,andErichvonTschermak,whoclaimedtohavereached
similarconclusionsintheirownresearch.However,thesescientistswerenotyetawareoftheidentityofthe
'discreteunits'onwhichgeneticmaterialresides.Thebiologicalentityresponsiblefordefiningtraitswas
latertermedagene,butthebiologicalbasisforinheritanceremainedunknownuntilDNAwasidentifiedas
thegeneticmaterialinthe1940s.Mendelwasalsothefirsttoshowindependentassortment,thedistinction
betweendominantandrecessivetraits,thedistinctionbetweenaheterozygoteandhomozygote,the
phenomenonofdiscontinuinginheritanceandwhatwouldlaterbedescribedasgenotype(thegenetic
materialofanorganism)andphenotype(thevisibletraitsofthatorganism)andtheconversionofoneform
intoanotherwithinfewgenerations.
CharlesDarwinusedthetermgemmuletodescribeamicroscopicunitofinheritance,andwhatwouldlater
becomeknownaschromosomeshadbeenobservedseparatingoutduringcelldivisionbyWilhelm
Hofmeisterasearlyas1848.Theideathatchromosomesarethecarriersofinheritancewasexpressedin
1883byWilhelmRoux.Darwinalsocoinedthewordpangenesisby(1868).[4]Thewordpangenesisis
madefromtheGreekwordspan(aprefixmeaning"whole","encompassing")andgenesis("birth")or
genos("origin").
Mendel'sconceptwasgivenanamebyHugodeVriesin1889,inhisbookIntracellularPangenesis
althoughprobablyunawareofMendel'sworkatthetime,hecoinedtheterm"pangen"for"thesmallest
particle[representing]onehereditarycharacteristic".[5]DanishbotanistWilhelmJohannsencoinedthe
word"gene"("gen"inDanishandGerman)in1909todescribethefundamentalphysicalandfunctional
unitsofheredity,[6]whiletherelatedwordgeneticswasfirstusedbyWilliamBatesonin1905.[7]He
derivedthewordfromdeVries'"pangen".Intheearly1900s,Mendel'sworkreceivedrenewedattention
fromscientists.In1910,ThomasHuntMorganshowedthatgenesresideonspecificchromosomes.Helater
showedthatgenesoccupyspecificlocationsonthechromosome.Withthisknowledge,Morganandhis
studentsbeganthefirstchromosomalmapofthefruitflyDrosophila.In1928,FrederickGriffithshowed
thatgenescouldbetransferred.InwhatisnowknownasGriffith'sexperiment,injectionsintoamouseofa
deadlystrainofbacteriathathadbeenheatkilledtransferredgeneticinformationtoasafestrainofthe
samebacteria,killingthemouse.
Aseriesofsubsequentdiscoveriesledtotherealizationdecadeslaterthatchromosomeswithincellsarethe
carriersofgeneticmaterial,andthattheyaremadeofDNA(deoxyribonucleicacid),apolymericmolecule
foundinallcellsonwhichthe'discreteunits'ofMendelianinheritanceareencoded.In1941,GeorgeWells
BeadleandEdwardLawrieTatumshowedthatmutationsingenescausederrorsinspecificstepsin
metabolicpathways.Thisshowedthatspecificgenescodeforspecificproteins,leadingtothe"onegene,
oneenzyme"hypothesis.[7]OswaldAvery,ColinMunroMacLeod,andMaclynMcCartyshowedin1944
thatDNAholdsthegene'sinformation.[8]In1952,RosalindFranklinandRaymondGoslingproduceda
strikinglyclearxraydiffractionpatternindicatingahelicalform,andin1953,JamesD.Watsonand
FrancisCrickdemonstratedthemolecularstructureofDNA.Together,thesediscoveriesestablishedthe
centraldogmaofmolecularbiology,whichstatesthatproteinsaretranslatedfromRNAwhichis
transcribedfromDNA.Thisdogmahassincebeenshowntohaveexceptions,suchasreversetranscription
inretroviruses.

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In1972,WalterFiersandhisteamattheLaboratoryofMolecularBiologyoftheUniversityofGhent
(Ghent,Belgium)werethefirsttodeterminethesequenceofagene:thegeneforBacteriophageMS2coat
protein.[9]RichardJ.RobertsandPhillipSharpdiscoveredin1977thatgenescanbesplitintosegments.
Thisledtotheideathatonegenecanmakeseveralproteins.Recently(asof20032006),biologicalresults
letthenotionofgeneappearmoreslippery.Inparticular,genesdonotseemtositsidebysideonDNAlike
discretebeads.Instead,regionsoftheDNAproducingdistinctproteinsmayoverlap,sothattheidea
emergesthat"genesareonelongcontinuum".[1]Itwasfirsthypothesizedin1986byWalterGilbertthat
neitherDNAnorproteinwouldberequiredinsuchaprimitivesystemasthatofaveryearlystageofthe
earthifRNAcouldperformassimplyacatalystandgeneticinformationstorageprocessor.
ThemodernstudyofgeneticsatthelevelofDNAisknownasmoleculargeneticsandthesynthesisof
moleculargeneticswithtraditionalDarwinianevolutionisknownasthemodernevolutionarysynthesis.

Mendelianinheritanceandclassicalgenetics
AccordingtothetheoryofMendelianinheritance,variationsin
phenotypetheobservablephysicalandbehavioralcharacteristics
ofanorganismaredueinparttovariationsingenotype,orthe
organism'sparticularsetofgenes,eachofwhichspecifiesa
particulartrait.Differentformsofagene,whichmaygiveriseto
differentphenotypes,areknownasalleles.Organismssuchasthe
peaplantsMendelworkedon,alongwithmanyplantsandanimals,
havetwoallelesforeachtrait,oneinheritedfromeachparent.
Allelesmaybedominantorrecessivedominantallelesgiveriseto
theircorrespondingphenotypeswhenpairedwithanyotherallele
forthesametrait,whereasrecessiveallelesgiverisetotheir
correspondingphenotypeonlywhenpairedwithanothercopyofthe
sameallele.Forexample,iftheallelespecifyingtallstemsinpea
plantsisdominantovertheallelespecifyingshortstems,thenpea
plantsthatinheritonetallallelefromoneparentandoneshortallele
fromtheotherparentwillalsohavetallstems.Mendel'swork
demonstratedthatallelesassortindependentlyintheproductionof
gametes,orgermcells,ensuringvariationinthenextgeneration.

Crossingbetweentwopeaplants
heterozygousforpurple(B,
dominant)andwhite(b,recessive)
blossoms

Physicaldefinitions
RNAgenesandgenomesintheworld
Whenproteinsaremanufactured,thegeneisfirstcopiedintoRNAasanintermediateproduct.Inother
cases,theRNAmoleculesaretheactualfunctionalproducts.Forexample,RNAsknownasribozymesare
capableofenzymaticfunction,andmicroRNAhasaregulatoryrole.TheDNAsequencesfromwhichsuch
RNAsaretranscribedareknownasRNAgenes.
SomevirusesstoretheirentiregenomesintheformofRNA,andcontainnoDNAatall.Becausetheyuse
RNAtostoregenes,theircellularhostsmaysynthesizetheirproteinsassoonastheyareinfectedand
withoutthedelayinwaitingfortranscription.Ontheotherhand,RNAretroviruses,suchasHIV,require
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thereversetranscriptionoftheirgenomefromRNAintoDNAbeforetheirproteinscanbesynthesized.In
2006,FrenchresearcherscameacrossapuzzlingexampleofRNAmediatedinheritanceinmice.Micewith
alossoffunctionmutationinthegeneKithavewhitetails.Offspringofthesemutantscanhavewhitetails
despitehavingonlynormalKitgenes.TheresearchteamtracedthiseffectbacktomutatedKitRNA.[10]
WhileRNAiscommonasgeneticstoragematerialinviruses,inmammalsinparticularRNAinheritance
hasbeenobservedveryrarely.

Functionalstructureofagene
Thevastmajorityoflivingorganisms
encodetheirgenesinlongstrandsof
DNA(deoxyribonucleicacid).DNA
consistsofachainmadefromfourtypes
ofnucleotidesubunits,eachcomposed
of:afivecarbonsugar(2'deoxyribose),
aphosphategroup,andoneofthefour
basesadenine,cytosine,guanine,and
thymine.Themostcommonformof
DNAinacellisinadoublehelix
structure,inwhichtwoindividualDNA
strandstwistaroundeachotherina
righthandedspiral.Inthisstructure,the
basepairingrulesspecifythatguanine
pairswithcytosineandadeninepairs
withthymine.Thebasepairingbetween
guanineandcytosineformsthree
hydrogenbonds,whereasthebase
pairingbetweenadenineandthymine
formstwohydrogenbonds.Thetwo
strandsinadoublehelixmusttherefore
becomplementary,thatis,theirbases
mustalignsuchthattheadeninesofone
strandarepairedwiththethyminesof
theotherstrand,andsoon.

Diagramofthe"typical"eukaryoticproteincodinggene.Promoters
andenhancersdeterminewhatportionsoftheDNAwillbe
transcribedintotheprecursormRNA(premRNA).ThepremRNA
isthensplicedintomessengerRNA(mRNA)whichislatertranslated
intoprotein.

Duetothechemicalcompositionofthepentoseresiduesofthebases,DNAstrandshavedirectionality.One
endofaDNApolymercontainsanexposedhydroxylgrouponthedeoxyribosethisisknownasthe3'end
ofthemolecule.Theotherendcontainsanexposedphosphategroupthisisthe5'end.Thedirectionalityof
DNAisvitallyimportanttomanycellularprocesses,sincedoublehelicesarenecessarilydirectional(a
strandrunning5'3'pairswithacomplementarystrandrunning3'5'),andprocessessuchasDNA
replicationoccurinonlyonedirection.Allnucleicacidsynthesisinacelloccursinthe5'3'direction,
becausenewmonomersareaddedviaadehydrationreactionthatusestheexposed3'hydroxylasa
nucleophile.
TheexpressionofgenesencodedinDNAbeginsbytranscribingthegeneintoRNA,asecondtypeof
nucleicacidthatisverysimilartoDNA,butwhosemonomerscontainthesugarriboseratherthan
deoxyribose.RNAalsocontainsthebaseuracilinplaceofthymine.RNAmoleculesarelessstablethan
DNAandaretypicallysinglestranded.Genesthatencodeproteinsarecomposedofaseriesofthree
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nucleotidesequencescalledcodons,whichserveasthewordsinthegeneticlanguage.Thegeneticcode
specifiesthecorrespondenceduringproteintranslationbetweencodonsandaminoacids.Thegeneticcode
isnearlythesameforallknownorganisms.
AllgeneshaveregulatoryregionsinadditiontoregionsthatexplicitlycodeforaproteinorRNAproduct.
Aregulatoryregionsharedbyalmostallgenesisknownasthepromoter,whichprovidesapositionthatis
recognizedbythetranscriptionmachinerywhenageneisabouttobetranscribedandexpressed.Agene
canhavemorethanonepromoter,resultinginRNAsthatdifferinhowfartheyextendinthe5'end.[11]
Althoughpromoterregionshaveaconsensussequencethatisthemostcommonsequenceatthisposition,
somegeneshave"strong"promotersthatbindthetranscriptionmachinerywell,andothershave"weak"
promotersthatbindpoorly.Theseweakpromotersusuallypermitalowerrateoftranscriptionthanthe
strongpromoters,becausethetranscriptionmachinerybindstothemandinitiatestranscriptionless
frequently.Otherpossibleregulatoryregionsincludeenhancers,whichcancompensateforaweak
promoter.Mostregulatoryregionsare"upstream"thatis,beforeortowardthe5'endofthetranscription
initiationsite.Eukaryoticpromoterregionsaremuchmorecomplexanddifficulttoidentifythan
prokaryoticpromoters.
Manyprokaryoticgenesareorganizedintooperons,orgroupsofgeneswhoseproductshaverelated
functionsandwhicharetranscribedasaunit.Bycontrast,eukaryoticgenesaretranscribedonlyoneata
time,butmayincludelongstretchesofDNAcalledintronswhicharetranscribedbutnevertranslatedinto
protein(theyaresplicedoutbeforetranslation).Splicingcanalsooccurinprokaryoticgenes,butisless
commonthanineukaryotes.[12]

Chromosomes
Thetotalcomplementofgenesinanorganismorcellisknownasitsgenome,whichmaybestoredonone
ormorechromosomestheregionofthechromosomeatwhichaparticulargeneislocatediscalledits
locus.Achromosomeconsistsofasingle,verylongDNAhelixonwhichthousandsofgenesareencoded.
Prokaryotesbacteriaandarchaeatypicallystoretheirgenomesonasinglelarge,circularchromosome,
sometimessupplementedbyadditionalsmallcirclesofDNAcalledplasmids,whichusuallyencodeonlya
fewgenesandareeasilytransferablebetweenindividuals.Forexample,thegenesforantibioticresistance
areusuallyencodedonbacterialplasmidsandcanbepassedbetweenindividualcells,eventhoseof
differentspecies,viahorizontalgenetransfer.Althoughsomesimpleeukaryotesalsopossessplasmidswith
smallnumbersofgenes,themajorityofeukaryoticgenesarestoredonmultiplelinearchromosomes,which
arepackedwithinthenucleusincomplexwithstorageproteinscalledhistones.ThemannerinwhichDNA
isstoredonthehistone,aswellaschemicalmodificationsofthehistoneitself,areregulatorymechanisms
governingwhetheraparticularregionofDNAisaccessibleforgeneexpression.Theendsofeukaryotic
chromosomesarecappedbylongstretchesofrepetitivesequencescalledtelomeres,whichdonotcodefor
anygeneproductbutarepresenttopreventdegradationofcodingandregulatoryregionsduringDNA
replication.Thelengthofthetelomerestendstodecreaseeachtimethegenomeisreplicatedinpreparation
forcelldivisionthelossoftelomereshasbeenproposedasanexplanationforcellularsenescence,orthe
lossoftheabilitytodivide,andbyextensionfortheagingprocessinorganisms.[13]
Whereasthechromosomesofprokaryotesarerelativelygenedense,thoseofeukaryotesoftencontainso
called"junkDNA",orregionsofDNAthatservenoobviousfunction.Simplesinglecelledeukaryotes
haverelativelysmallamountsofsuchDNA,whereasthegenomesofcomplexmulticellularorganisms,

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includinghumans,containanabsolutemajorityofDNAwithoutanidentifiedfunction.[14]Howeveritnow
appearsthat,althoughproteincodingDNAmakesupbarely2%ofthehumangenome,about80%ofthe
basesinthegenomemaybeexpressed,sotheterm"junkDNA"maybeamisnomer.[2]

Geneexpression
Inallorganisms,therearetwomajorstepsseparatingaproteincodinggenefromitsprotein:First,theDNA
onwhichthegeneresidesmustbetranscribedfromDNAtomessengerRNA(mRNA)and,second,it
mustbetranslatedfrommRNAtoprotein.RNAcodinggenesmuststillgothroughthefirststep,butare
nottranslatedintoprotein.TheprocessofproducingabiologicallyfunctionalmoleculeofeitherRNAor
proteiniscalledgeneexpression,andtheresultingmoleculeitselfiscalledageneproduct.

Geneticcode
Thegeneticcodeisthesetofrulesbywhichinformationencoded
withinageneistranslatedintoafunctionalprotein.Eachgeneconsists
ofaspecificsequenceofnucleotidesencodedinDNAorRNA.The
nucleotidebeingmadeupofasugar,aphosphatemoleculeanda
specificbase(adenine,thymine,cytosine,guanineorsometimesuracil
[thymineisreplacedwithuracilinsomeviruses[15]])acorrespondence
betweennucleotides,thebasicbuildingblocksofgeneticmaterial,and
aminoacids,thebasicbuildingblocksofproteins,mustbeestablished
forgenestobesuccessfullytranslatedintofunctionalproteins.Setsof
threenucleotides,knownascodons,eachcorrespondtoaspecific
aminoacidortoasignalthreecodonsareknownas"stopcodons"and,
insteadofspecifyinganewaminoacid,alertthetranslationmachinery
thattheendofthegenehasbeenreached,justasaspecificsetof3
bases,"AUG",knownasthe"startcodon",signifiesthegenetostart
transcribing.Thereare64possiblecodons(fourpossiblenucleotidesat
eachofthreepositions,hence43possiblecodons)andonly20standard
aminoacidshencethecodeisredundantandmultiplecodonscan
specifythesameaminoacid.Thecorrespondencebetweencodonsand
aminoacidsisnearlyuniversalamongallknownlivingorganisms.

Schematicdiagramofasingle
strandedRNAmolecule
illustratingthepositionofthree
basecodons.

Transcription
TheprocessofgenetictranscriptionproducesasinglestrandedRNAmoleculeknownasmessengerRNA,
whosenucleotidesequenceiscomplementarytotheDNAfromwhichitwastranscribed.TheDNAstrand
whosesequencematchesthatoftheRNAisknownasthecodingstrandandthestrandfromwhichthe
RNAwassynthesizedisthetemplatestrand.TranscriptionisperformedbyanenzymecalledanRNA
polymerase,whichreadsthetemplatestrandinthe3'to5'directionandsynthesizestheRNAfrom5'to3'.
Toinitiatetranscription,thepolymerasefirstrecognizesandbindsapromoterregionofthegene.Thusa
majormechanismofgeneregulationistheblockingorsequesteringofthepromoterregion,eitherbytight
bindingbyrepressormoleculesthatphysicallyblockthepolymerase,orbyorganizingtheDNAsothatthe
promoterregionisnotaccessible.
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Inprokaryotes,transcriptionoccursinthecytoplasmforverylongtranscripts,translationmaybeginatthe
5'endoftheRNAwhilethe3'endisstillbeingtranscribed.Ineukaryotes,transcriptionnecessarilyoccurs
inthenucleus,wherethecell'sDNAissequesteredtheRNAmoleculeproducedbythepolymeraseis
knownastheprimarytranscriptandmustundergoposttranscriptionalmodificationsbeforebeingexported
tothecytoplasmfortranslation.Thesplicingofintronspresentwithinthetranscribedregionisa
modificationuniquetoeukaryotesalternativesplicingmechanismscanresultinmaturetranscriptsfromthe
samegenehavingdifferentsequencesandthuscodingfordifferentproteins.Thisisamajorformof
regulationineukaryoticcells.

Translation
TranslationistheprocessbywhichamaturemRNAmoleculeisusedasatemplateforsynthesizinganew
protein.Translationiscarriedoutbyribosomes,largecomplexesofRNAandproteinresponsiblefor
carryingoutthechemicalreactionstoaddnewaminoacidstoagrowingpolypeptidechainbythe
formationofpeptidebonds.Thegeneticcodeisreadthreenucleotidesatatime,inunitscalledcodons,via
interactionswithspecializedRNAmoleculescalledtransferRNA(tRNA).EachtRNAhasthreeunpaired
basesknownastheanticodonthatarecomplementarytothecodonitreadsthetRNAisalsocovalently
attachedtotheaminoacidspecifiedbythecomplementarycodon.WhenthetRNAbindstoits
complementarycodoninanmRNAstrand,theribosomeligatesitsaminoacidcargotothenewpolypeptide
chain,whichissynthesizedfromaminoterminustocarboxylterminus.Duringandafteritssynthesis,the
newproteinmustfoldtoitsactivethreedimensionalstructurebeforeitcancarryoutitscellularfunction.

DNAreplicationandinheritance
Thegrowth,development,andreproductionoforganismsreliesoncelldivision,ortheprocessbywhicha
singlecelldividesintotwousuallyidenticaldaughtercells.Thisrequiresfirstmakingaduplicatecopyof
everygeneinthegenomeinaprocesscalledDNAreplication.Thecopiesaremadebyspecializedenzymes
knownasDNApolymerases,which"read"onestrandofthedoublehelicalDNA,knownasthetemplate
strand,andsynthesizeanewcomplementarystrand.BecausetheDNAdoublehelixisheldtogetherbybase
pairing,thesequenceofonestrandcompletelyspecifiesthesequenceofitscomplementhenceonlyone
strandneedstobereadbytheenzymetoproduceafaithfulcopy.TheprocessofDNAreplicationis
semiconservativethatis,thecopyofthegenomeinheritedbyeachdaughtercellcontainsoneoriginaland
onenewlysynthesizedstrandofDNA.[16]
AfterDNAreplicationiscomplete,thecellmustphysicallyseparatethetwocopiesofthegenomeand
divideintotwodistinctmembraneboundcells.Inprokaryotesbacteriaandarchaeathisusuallyoccurs
viaarelativelysimpleprocesscalledbinaryfission,inwhicheachcirculargenomeattachestothecell
membraneandisseparatedintothedaughtercellsasthemembraneinvaginatestosplitthecytoplasminto
twomembraneboundportions.Binaryfissionisextremelyfastcomparedtotheratesofcelldivisionin
eukaryotes.EukaryoticcelldivisionisamorecomplexprocessknownasthecellcycleDNAreplication
occursduringaphaseofthiscycleknownasSphase,whereastheprocessofsegregatingchromosomesand
splittingthecytoplasmoccursduringMphase.Inmanysinglecelledeukaryotessuchasyeast,
reproductionbybuddingiscommon,whichresultsinasymmetricalportionsofcytoplasminthetwo
daughtercells.

Molecularinheritance
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Theduplicationandtransmissionofgeneticmaterialfromonegenerationofcellstothenextisthebasisfor
molecularinheritance,andthelinkbetweentheclassicalandmolecularpicturesofgenes.Organismsinherit
thecharacteristicsoftheirparentsbecausethecellsoftheoffspringcontaincopiesofthegenesintheir
parents'cells.Inasexuallyreproducingorganisms,theoffspringwillbeageneticcopyorcloneofthe
parentorganism.Insexuallyreproducingorganisms,aspecializedformofcelldivisioncalledmeiosis
producescellscalledgametesorgermcellsthatarehaploid,orcontainonlyonecopyofeachgene.The
gametesproducedbyfemalesarecalledeggsorova,andthoseproducedbymalesarecalledsperm.Two
gametesfusetoformafertilizedegg,asinglecellthatonceagainhasadiploidnumberofgeneseach
withonecopyfromthemotherandonecopyfromthefather.
Duringtheprocessofmeioticcelldivision,aneventcalledgeneticrecombinationorcrossingovercan
sometimesoccur,inwhichalengthofDNAononechromatidisswappedwithalengthofDNAonthe
correspondingsisterchromatid.Thishasnoeffectiftheallelesonthechromatidsarethesame,butresults
inreassortmentofotherwiselinkedallelesiftheyaredifferent.TheMendelianprincipleofindependent
assortmentassertsthateachofaparent'stwogenesforeachtraitwillsortindependentlyintogametes
whichalleleanorganisminheritsforonetraitisunrelatedtowhichalleleitinheritsforanothertrait.Thisis
infactonlytrueforgenesthatdonotresideonthesamechromosome,orarelocatedveryfarfromone
anotheronthesamechromosome.Theclosertwogeneslieonthesamechromosome,themorecloselythey
willbeassociatedingametesandthemoreoftentheywillappeartogethergenesthatareverycloseare
essentiallyneverseparatedbecauseitisextremelyunlikelythatacrossoverpointwilloccurbetweenthem.
Thisisknownasgeneticlinkage.

Mutation
DNAreplicationisforthemostpartextremelyaccurate,withanerrorratepersiteofaround106to1010
ineukaryotes.[16](Althoughinprokaryotesandviruses,therateismuchhigher.)Rare,spontaneous
alterationsinthebasesequenceofaparticulargenearisefromanumberofsources,suchaserrorsinDNA
replicationandtheaftermathofDNAdamage.Theseerrorsarecalledmutations.Thecellcontainsmany
DNArepairmechanismsforpreventingmutationsandmaintainingtheintegrityofthegenomehowever,in
somecasessuchasbreaksinbothDNAstrandsofachromosomerepairingthephysicaldamagetothe
moleculeisahigherprioritythanproducinganexactcopy.Duetothedegeneracyofthegeneticcode,some
mutationsinproteincodinggenesaresilent,orproducenochangeintheaminoacidsequenceofthe
proteinforwhichtheycodeforexample,thecodonsUCUandUCCbothcodeforserine,sotheUC
mutationhasnoeffectontheprotein.Mutationsthatdohavephenotypiceffectsaremostoftenneutralor
deleterioustotheorganism.Variantsmayconferbenefitstotheorganism'sfitnessitiscommonlythought
thatmutationsmayproducebeneficialvariants.Themostcommonmutationsincludepointmutationsin
whichasinglecodonisreplaced,frameshiftmutationwhereasinglenucleotidebaseisinsertedordeleted
fromtheDNAstrandsothatallbasesareshiftedover,silentmutationswhereasinglenucleotidebaseis
replacedbutwithoutcausingachangefortheaminoacidbeingcodedfor,andnonsensemutations,wherea
changeinasinglenucleotidebasecausesacodontobeturnedintoastopcodonhenceterminating
transcriptionatthispoint.
Mutationspropagatedtothenextgenerationleadtovariationswithinaspecies'population.Variantsofa
singlegeneareknownasalleles,anddifferencesinallelesmaygiverisetodifferencesintraits.Althoughit
israreforthevariantsinasinglegenetohaveclearlydistinguishablephenotypiceffects,certainwell
definedtraitsareinfactcontrolledbysinglegeneticloci.Agene'smostcommonalleleiscalledthewild
typeallele,andrareallelesarecalledmutants.However,thisdoesnotimplythatthewildtypealleleisthe
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ancestorfromwhichthemutantsaredescended.Forthemostpart,thesemutationsarerecessiveandare
phasedoutquickly.However,onoccasionthesemutationsappearasdominanttootheralleles,becoming
predominantandincreasingintheratetheyareseeninapopulation.

Genome
Chromosomalorganization
Thetotalcomplementofgenesinanorganismorcellisknownasitsgenome.Inprokaryotes,thevast
majorityofgenesarelocatedonasinglechromosomeofcircularDNA,whileeukaryotesusuallypossess
multipleindividuallinearDNAhelicespackedintodenseDNAproteincomplexescalledchromosomes.
Genesthatappeartogetherononechromosomeofonespeciesmayappearonseparatechromosomesin
anotherspecies.Manyspeciescarrymorethanonecopyoftheirgenomewithineachoftheirsomaticcells.
Cellsororganismswithonlyonecopyofeachchromosomearecalledhaploidthosewithtwocopiesare
calleddiploidandthosewithmorethantwocopiesarecalledpolyploid.Thecopiesofgenesonthe
chromosomesarenotnecessarilyidentical.Insexuallyreproducingorganisms,onecopyisnormally
inheritedfromeachparent.

Numberofgenes
Earlyestimatesofthe
numberofhumangenes
thatusedexpressed
sequencetagdataputitat
50000100000.[18]
Followingthesequencing
ofthehumangenomeand
othergenomes,ithasbeen
foundthatratherfewgenes
(~20000inhuman,mouse
andfly,~13000in
roundworm,>46,000in
Theproteinencodingcomponentofthehumangenome,categorizedbyfunctionof
rice[19])encodeallthe
eachgeneproduct,givenbothasnumberofgenesandaspercentageofall
[20]
proteinsinanorganism.
genes. [17]
Theseproteincoding
sequencesmakeup12%
ofthehumangenome.[21]Alargepartofthegenomeistranscribedhowever,tointrons,retrotransposons
andseeminglyalargearrayofnoncodingRNAs.[20][21]Totalnumberofproteins(theEarth'sproteome)is
estimatedtobe5millionsequences.[22]

Geneticandgenomicnomenclature
GenenomenclaturehasbeenestablishedbytheHUGOGeneNomenclatureCommittee(HGNC)foreach
knownhumangeneintheformofanapprovedgenenameandsymbol(shortformabbreviation).All
approvedsymbolsarestoredintheHGNCDatabase(http://www.genenames.org/cgibin/hgnc_search.pl).
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Eachsymbolisuniqueandeachgeneisonlygivenoneapprovedgenesymbol.Thisalsofacilitates
electronicdataretrievalfrompublications.Inpreferenceeachsymbolmaintainsparallelconstructionin
differentmembersofagenefamilyandcanbeusedinotherspecies,especiallythemouse.

Essentialgenes
Essentialgenesarethosegenesofanorganismthatarethoughttobecriticalforitssurvival.Surprisingly
fewgeneshavebeenshowntobeabsolutelyessentialforthesurvivalofbacteria,e.g.onlyabout10%of
the~4,200genesofEscherichiacoli.

Evolutionaryconceptofagene
GeorgeC.Williamsfirstexplicitlyadvocatedthegenecentricviewofevolutioninhis1966book
AdaptationandNaturalSelection.Heproposedanevolutionaryconceptofgenetobeusedwhenweare
talkingaboutnaturalselectionfavoringsomegenes.Thedefinitionis:"thatwhichsegregatesand
recombineswithappreciablefrequency."Accordingtothisdefinition,evenanasexualgenomecouldbe
consideredagene,insofarthatithaveanappreciablepermanencythroughmanygenerations.
Thedifferenceis:themoleculargenetranscribesasaunit,andtheevolutionarygeneinheritsasaunit.
RichardDawkins'booksTheSelfishGene(1976)andTheExtendedPhenotype(1982)defendedtheidea
thatthegeneistheonlyreplicatorinlivingsystems.Thismeansthatonlygenestransmittheirstructure
largelyintactandarepotentiallyimmortalintheformofcopies.So,genesshouldbetheunitofselection.
InRiverOutofEden,Dawkinsfurtherrefinedtheideaofgenecentricselectionbydescribinglifeasariver
ofcompatiblegenesflowingthroughgeologicaltime.Scoopupabucketofgenesfromtheriverofgenes,
andwehaveanorganismservingastemporarybodiesorsurvivalmachines.Ariverofgenesmayforkinto
twobranchesrepresentingtwononinterbreedingspeciesasaresultofgeographicalseparation.

Genetargetingandimplications
Genetargetingiscommonlyreferredtotechniquesforalteringordisruptingmousegenesandprovidesthe
mousemodelsforstudyingtherolesofindividualgenesinembryonicdevelopment,humandisorders,aging
anddiseases.Themousemodels,whereoneormoreofitsgenesaredeactivatedormadeinoperable,are
calledknockoutmice.Sincethefirstreportsinwhichhomologousrecombinationamonghomologous
chromosomesinembryonicstemcellswasusedtogenerategenetargetedmice,[23]genetargetinghas
proventobeapowerfulmeansofpreciselymanipulatingthemammaliangenome,producingatleastten
thousandmutantmousestrainsanditisnowpossibletointroducemutationsthatcanbeactivatedatspecific
timepoints,orinspecificcellsororgans,bothduringdevelopmentandintheadultanimal.[24][25]
Genetargetingstrategieshavebeenexpandedtoallkindsofmodifications,includingpointmutations,
isoformdeletions,mutantallelecorrection,largepiecesofchromosomalDNAinsertionanddeletion,tissue
specificdisruptioncombinedwithspatialandtemporalregulationandsoon.Itispredictedthattheability
togeneratemousemodelswithpredictablephenotypeswillhaveamajorimpactonstudiesofallphasesof
development,immunology,neurobiology,oncology,physiology,metabolism,andhumandiseases.Gene
targetingisalsointheoryapplicabletospeciesfromwhichtotipotentembryonicstemcellscanbe
established,andthereforemayofferapotentialtotheimprovementofdomesticanimalsandplants.[25][26]
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Changingconcept
Theconceptofthegenehaschangedconsiderably(seehistorysection).Fromtheoriginaldefinitionofa
"unitofinheritance",thetermevolvedtomeanaDNAbasedunitthatcanexertitseffectsontheorganism
throughRNAorproteinproducts.Itwasalsopreviouslybelievedthatonegenemakesoneproteinthis
conceptwasoverthrownbythediscoveryofalternativesplicingandtranssplicing.[7]
Thedefinitionofageneisstillchanging.ThefirstcasesofRNAbasedinheritancehavebeendiscoveredin
mammals.[27]Evidenceisalsoaccumulatingthatthecontrolregionsofagenedonotnecessarilyhavetobe
closetothecodingsequenceonthelinearmoleculeorevenonthesamechromosome.Spilianakisand
colleaguesdiscoveredthatthepromoterregionoftheinterferongammageneonchromosome10andthe
regulatoryregionsoftheT(H)2cytokinelocusonchromosome11comeintocloseproximityinthenucleus
possiblytobejointlyregulated.[28]Eventhecodingsequenceofageneitselfdoesn'thavetobeallonthe
samechromosome:MarandeandBurgershowedthat,inthemitochondriaoftheprotistDiplonema
papillatum,"genesaresystematicallyfragmentedintosmallpiecesthatareencodedonseparate
chromosomes,transcribedindividually,andthenconcatenatedintocontiguousmessengerRNA
molecules".[29]
Theconceptthatgenesareclearlydelimitedisalsobeingeroded.Thereisevidenceforfusedproteins
stemmingfromtwoadjacentgenesthatcanproducetwoseparateproteinproducts.Whileitisnotclear
whetherthesefusionproteinsarefunctional,thephenomenonismorefrequentthanpreviouslythought.[30]
Evenmoregroundbreakingthanthediscoveryoffusedgenesistheobservationthatsomeproteinscanbe
composedofexonsfromfarawayregionsandevendifferentchromosomes.[2][31]Thisnewdatahasledto
anupdated,andprobablytentative,definitionofageneas"aunionofgenomicsequencesencodinga
coherentsetofpotentiallyoverlappingfunctionalproducts".[7]Thisnewdefinitioncategorizesgenesby
functionalproducts,whethertheybeproteinsorRNA,ratherthanspecificDNAlociallregulatory
elementsofDNAarethereforeclassifiedasgeneassociatedregions.[7]

Seealso
Copynumbervariation
DNA
Epigenetics
Fullgenomesequencing
Genecentricviewofevolution
Genedosage
Geneexpression
Genefamily
Genepatent
Genepool
Generedundancy
Genetherapy
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Geneticalgorithm
Geneticengineering
Genetics
Genomics
Listofgenepredictionsoftware
Listofnotablegenes
Populationgenetics
Predictivemedicine
Pseudogene

Notesandreferences
1. ^abPearsonH(2006)."Genetics:whatisagene?".Nature441(7092):398401.Bibcode:2006Natur.441..398P
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2. ^abcElizabethPennisi(2007)."DNAStudyForcesRethinkofWhatItMeanstoBeaGene".Science316
(5831):15561557.doi:10.1126/science.316.5831.1556(http://dx.doi.org/10.1126%2Fscience.316.5831.1556).
PMID17569836(https://www.ncbi.nlm.nih.gov/pubmed/17569836).
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view=long&pmid=18559318)(Freefulltext).Philosophicaltransactions.SeriesA,Mathematical,physical,and
engineeringsciences366(1878):30013015.Bibcode:2008RSPTA.366.3001N
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ISBN0007635737.
Guerzoni,McLysaght,D,A(November10,2011).DeNovoOriginsofHumanGenes.
(http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002381).PLoS
Genet7(11).
HartwellL,HoodL,GoldbergML,ReynoldsAE,SilverLM,VeresR(2004).Genetics:fromgenes
togenomes(Seconded.).Boston:McGrawHillHigherEducation.ISBN0072919302.

Externallinks
ComparativeToxicogenomicsDatabase(http://ctdbase.org/)
DNAFromTheBeginningaprimerongenesandDNA(http://www.dnaftb.org/)
GenesAndDNAIntroductiontogenesandDNAaimedatnonbiologist
(http://www.bioinformaticstutorials.com/?p=6)
EntrezGeneasearchabledatabaseofgenes(http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene)
IDconverterconvertsgeneIDsbetweenpublicdatabases(http://idconverter.bioinfo.cnio.es/)
iHOPInformationHyperlinkedoverProteins(http://www.ihopnet.org/UniPub/iHOP/)
TranscriptomeBrowserGeneexpressionprofileanalysis(http://tagc.univmrs.fr/tbrowser)
TheProteinNamingUtility,adatabasetoidentifyandcorrectdeficientgenenames
(http://www.jcvi.org/pnutility)
Genes(http://www.mdpi.com/journal/genes/)anOpenAccessjournal
IMPC(InternationalMousePhenotypingConsortium)(http://www.mousephenotype.org/)
Encyclopediaofmammaliangenefunction
GlobalGenesProject(http://www.globalgenes.org/)Leadingnonprofitorganizationsupporting
peoplelivingwithgeneticdiseases
http://en.wikipedia.org/wiki/Gene

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GeneWikipedia,thefreeencyclopedia

ENCODEthreadsExplorer(http://www.nature.com/encode/#/threads/characterizationofintergenic
regionsandgenedefinition)Characterizationofintergenicregionsandgenedefinition.Nature
(journal)
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