Peter J.

Russell
AmolecularApproach2ndEdition

CHAPTER 1
Genetics: An Introduction

editedbyYueWenWangPh.D.
Dept.ofAgronomy,NTU

Chapter1slide

ClassicalandModernGenetics
1. Humanshavelongunderstoodthatoffspringtend
toresembleparents,andhaveselectivelybred
animalsandplantsformanycenturies.The
principlesofhereditywerefirstexplainedby
Mendelinthemidnineteenthcentury,using
definedcrossesofpeaplants.

Chapter1slide

ClassicalandModernGenetics
2. Inthelastcentury,geneticshasbecomeanimportant
biologicaltool,usingmutantstogainanunderstandingof
specificprocesses.Thisworkhasincluded:
a.Analyzingheredityinpopulations.
b.Analyzingevolutionaryprocesses.
c.Identifyinggenesthatcontrolstepsinprocesses.
d.Mappinggenes.
e.Determiningproductsofgenes.
f. Analyzingmolecularfeaturesofgenesandregulationofgene
expression.

Chapter1slide

ClassicalandModernGenetics
3. Recentimportantmilestonesingeneticsinclude:
a.Bergsconstruction(1972)ofthefirstrecombinant
DNAmoleculeinvitro.
b.BoyerandCohensfirstcloning(1973)ofa
recombinantDNAmolecule.
c.InventionbyMullis(1986)ofthepolymerasechain
reaction(PCR)toamplifyspecificDNAsequences

Chapter1slide

ClassicalandModernGenetics
4. Completionofgenomicsequencingforan
increasingnumberoforganismshasspawnedthe
newfieldofgenomics.Knowledgeofindividual
genesandtheirregulationwillbeimportantto
basicbiologicalresearch,aswellastospecific
applicationssuchasmedicalgenetics.
5. Powerfulnewtechniquesingeneticsraise
importantethical,legalandsocialissuesthatwill
needthoughtfulsolutions.

Chapter1slide

BasicConceptsofGenetics
Theconceptsandprocessesofgeneticssummarized
hereareintendedasareviewfromthe
introductorybiologycourse.

Chapter1slide

DNA,GenesandChromosomes
1. Geneticmaterialofbotheukaryotesand
prokaryotesisDNA(deoxyribonucleicacid).
ManyvirusesalsohaveDNA,butsomehave
RNAgenomesinstead.
2. DNAhastwochains,eachmadeofnucleotides
composedofadeoxyribosesugar,aphosphate
groupandabase.Thechainsformadoublehelix
(Figure1.1).

Chapter1slide

Fig. 1.1 DNA

Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.

Chapter1slide

DNA,GenesandChromosomes
3. TherearefourbasesinDNA:A(adenine),G
(guanine),C(cytosine)andT(thymine).
a.InRNA,U(uracil)replacesT.
b.Thesequenceofbasesdeterminesthegenetic
information.
c.Genesarespecificsequencesofnucleotidesthatpass
traitsfromparentstooffspring.

Chapter1slide

DNA,GenesandChromosomes
4. Geneticmaterialincellsisorganizedinto
chromosomes(literallycoloredbodybecauseit
stainswithbiologicaldyes).
a.Prokaryotesgenerallyhaveonecircularchromosome.
b.Eukaryotesgenerallyhave:
i.Linearchromosomesintheirnuclei,withdifferent
specieshavingdifferentnumbersofchromosomes.
ii.DNAinorganelles(e.g.,mitochondriaand
chloroplasts)thatisusuallyacircularmolecule.

Chapter1slide

TransmissionofGeneticInformation
1. Transmissionoftraitsfromparentstooffspringwas
addressedinMendelsworkwithpeas.
a.Heselectedstrainsthatdifferedinparticulartraits(e.g.,smooth
orwrinkledseeds,purpleorwhiteflowers)(Figure1.2).
b.Aftermakinggeneticcrosses,hecountedtheappearanceoftraits
intheprogenyandanalyzedtheresultsmathematically.
c.Heconcludedthateachorganismcontainstwocopiesofeach
gene,onefromeachparent,andthatalternativeversionsofthe
genes(alleles)exist(e.g.,peaseedcolorallelesareyellow,Y,
andgreen,y).

Chapter1slide

TransmissionofGeneticInformation
2. Anorganismthathasthesameallelesforatraitis
homozygous(e.g.,YYoryy).Anorganismwith
twodifferentalleles(e.g.,Yy)isheterozygous.
3. Thecompletegeneticmakeupofanorganismis
itsgenotype.Allobservabletraitsofanorganism
areitsphenotype.Thegenotypeinteractswith
bothinternalandexternalenvironmentsofthe
organismtoproducethephenotype.

Chapter1slide

TransmissionofGeneticInformation
4. Mendelconsideredthefactorscontrollingthephenotypesheobservedin
peas.
a.Hededucedthatthefactors(nowcalledgenes)segregaterandomlyinto
gametes(Mendelsfirstlaw,thePrincipleofSegregation).
b.Thetwofactorsforaparticulartraitassortindependentlyoffactors
controllingothertraits(Mendelssecondlaw,thePrincipleof
IndependentAssortment).
c.Anexampleisseedcolorinpeas:
i.Truebreedingplantswithyellowseeds(YY)arecrossedwithtrue
breedingplantswithgreenseeds(yy).
ii.Theprogeny(F1)haveyellowseeds,andaheterozygousgenotype
(Yy).
iii.Whentheprogenyselfpollinate,theF2containsthreeyellow:1
green,withgenotypicratiosof1YY:2Yy:1yy.

Chapter1slide

TransmissionofGeneticInformation
5. Mendeldiedin1884,thematerialbasisofgene
segregationwasshownuntil1902.
6. In1902,SuttonandBoveriproposedthatgenes
areonchromosomesandtheirmovement
explainablebythesegregationofchromosomes
duringmeiosis.

Chapter1slide

ExpressionofGeneticInformation
1. Geneexpressionistheprocessbywhichageneproduces
itsproductandtheproductcarriesoutitsfunction.
2. BeadleandTatum(1941)showedinthefungus
Neurosporacrassathatthereisarelationshipbetweena
geneandeachenzymeneededinabiochemicalpathway,
resultingintheonegeneoneenzymehypothesis(now
modifiedtoonegeneonepolypeptide,sincenotall
proteinsareenzymesandsomerequiremorethanone
polypeptide).

Chapter1slide

ExpressionofGeneticInformation
3. Productionofproteinsrequirestwosteps:
a.Transcriptioninvolvesanenzyme(RNApolymerase)makingan
RNAcopyofpartofoneDNAstrand.Therearefourmain
classesofRNA:
i.MessengerRNAs(mRNA),whichspecifytheaminoacid
sequenceofaproteinbyusingcodonsofthegeneticcode.
ii.TransferRNAs(tRNA).
iii.RibosomalRNAs(rRNA).
iv.SmallnuclearRNAs(snRNA),foundonlyineukaryotes.
b.TranslationconvertstheinformationinmRNAintotheamino
acidsequenceofaproteinusingribosomes,largecomplexesof
rRNAsandproteins.

Chapter1slide

Fig. 1.3 Transcription

Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.

Chapter1slide

ExpressionofGeneticInformation

Chapter1slide

ExpressionofGeneticInformation
4. Onlysomeofthegenesinacellareactiveatanygiven
time,andactivityalsovariesbytissuetypeand
developmentalstage.Regulationofgeneexpressionisnot
completelyunderstood,butithasbeenshowntoinvolve
anarrayofcontrollingsignals.
a.JacobandMonod(1961)proposedtheoperonmodeltoexplain
prokaryoticgeneregulation,showingthatageneticswitchis
usedtocontrolproductionoftheenzymesneededtometabolize
lactose.Similarsystemscontrolmanygenesinbacteriaandtheir
viruses.
b.Geneticswitchesusedineukaryotesaredifferentandmore
complex,withmuchremainingtobelearnedabouttheir
function.

Chapter1slide

SourcesofGeneticVariation
Geneticdifferencesbetweenorganismsarisefrommutations,recombination
andselection.Allthreearenecessaryfortheprocessofevolution.
a.Mutations(heritablechangesinthegeneticmaterial)maybespontaneous
orinduced.OnlythosethatescapethecellsDNArepairmechanismsare
fixedinthegenomeandpassedtothenextgeneration.
b.Recombination(exchangeofgeneticmaterial)isproducedbyenzymes
thatcutandrejoinDNAmolecules.
i.Ineukaryotes,recombinationviacrossingoveriscommoninmeiosis
andoccursmorerarelyinmitosis.
ii.Inprokaryotes,recombinationmayoccurwhentwoDNAmolecules
withsimilarsequencesbecomealigned.
c.Selection(favoringparticularcombinationsofgenesinagiven
environment)wasdescribedbyDarwin.Itsmainconsequenceisto
changethefrequencyofgenesaffectingtraitsunderselection.Different
genotypescontributeallelestothenextgenerationinproportiontotheir
selectiveadvantage.

Chapter1slide

GeneticistsandGeneticsResearch
1. Enormousamountsofgeneticresearchhavebeen
done,typicallyusingthehypotheticodeductive
methodofinvestigation,whichconsistsof:
a.Makingobservations.
b.Forminghypothesestoexplaintheobservations.
c.Makingexperimentalpredictionsbasedonthe
hypotheses.
d.Testingthepredictions,resultinginnewobservations
andanothercycleofresearch.

Chapter1slide

GeneticistsandGeneticsResearch
2. Researchisunpredictable,whichhelpsmotivate
scientistsbymakingtheworkexciting.(An
exampleofunpredictabilityisMcClintockswork
withcornkernelcolor,whichledtothediscovery
oftransposons).

Chapter1slide

TheSubdisciplinesofGenetics
1. Geneticsisoftendividedintofoursubdisciplines:
a.Transmission(classical)geneticsdealswithmovementofgenes
andgenetictraitsfromparentstooffspring,andwithgenetic
recombination.
b.Moleculargeneticsdealswiththemolecularstructureand
functionofgenes.
c.Populationgeneticsstudiesheredityingroupsfortraits
determinedbyoneorafewgenes.
d.Quantitativegeneticsstudiesgrouphereditaryfortraits
determinedbymanygenessimultaneously.

Chapter1slide

TheSubdisciplinesofGenetics
2.Historically,transmissiongeneticsdeveloped
first,followedbypopulation,quantitativeand
finallymoleculargenetics.
3.Genesinfluenceallaspectsofanorganismslife,
andarerelevanttoallfieldsofbiology.

Chapter1slide

BasicandAppliedResearch
1.Basicresearchisdonetounderstandfundamental
phenomena,regardlessofusefulnessforimmediate
applications.Mostoftheinformationinthisbookcomes
frombasicresearch.Theresultsofbasicresearchareused
tofuelbasicandappliedresearch.
2.Appliedresearchhasthegoalofanimmediate
application,andisimportantinagricultureandmedicine,
producingimprovedlivestockandcropplants,aswellas
diagnostictestsandtreatmentsfordiseases.

Chapter1slide

BasicandAppliedResearch
3.Basicandappliedresearcharecloselyrelated,usingsimilartechniques.
Bothrelyontheaccumulatedbodyofinformation.RecombinantDNA
technologyisanexampleofbasicresearchthathasledtomany
applications,including:
a.Plantbreedingtoimprovediseaseresistance,shelflifeandflavor.
b.Animalbreedingtodeveloplivestockthatproduceleanermeat,and
moremilkoreggs.
c.Medicinesincludingantibiotics,hormones,clottingfactorsandhuman
insulin.
d.Diagnostictestsformanyhumandiseases.
e.Forensicstechniquesthatareusedinpaternitytesting,criminalcases
andanthropologicalstudies.

Chapter1slide

GeneticDatabasesandMaps
1. Geneticdatabaseshavebecomemoresophisticatedascomputer
analysistoolshavebeendeveloped.TheNationalCenterfor
BiotechnologyInformation(NCBI)isanimportantwebsiteforgenetics
(http://www.ncbi.nlm.nih.gov),whichincludesthefollowingsearch
tools:
a.BLAST,atooltocomparenucleotideorproteinsequences.
b.GenBank,anannotatedDNAsequencedatabase.
c.PubMed,whichsearchesliteraturecitationsandabstractsandlinksto
electronicversionsofjournals.
d.OnlineMendelianInheritanceinMan(OMIM),adatabaseofhuman
genesandgeneticdisorders.
e.Entrezisasystemforsearchinglinkeddatabases .

Chapter1slide

GeneticDatabasesandMaps
2. Geneticmapshavebeenconstructedsince1902.
Theyshowthesitesofgenes(loci)on
chromosomes,andgeneticdistancesbetween
themcalculatedfromrecombinationin
experimentalcrosses.Geneticmapscanshow
whethergeneswithrelatedfunctionsareonthe
samechromosome,andareusefulincloningand
genomesequencing.

Chapter1slide

Fig. 1.6 Example of a genetic map, here some of the genes on chromosome 2 of the
fruit fly, Drosophila melanogaster

Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.

Chapter1slide

ModelOrganisms
1. Manyorganismsareusedingeneticresearch.
Desirablequalitiesforanexperimentalorganism
include:
a.Awellknowngenetichistory.
b.Ashortlifecyclesogenerationscanbestudiedina
relativelyshorttime.
c.Alargenumberofoffspringfromeachmating.
d.Easeofgrowingandhandlingtheorganism.
e.Markedgeneticvariationwithinthepopulation.

Chapter1slide

2. EukaryoteskeeptheirDNAinthenucleus,adiscrete
structureboundedbyanuclearenvelope(absentin
prokaryotes).
3. Eukaryotescanbeunicellularormulticellular.
4. Theseeukaryotesareusedinmuchofcurrentgenetic
research:
a.Saccharomycescerevisiae(aunicellularbakingyeast).
b.Drosophilamelanogaster(fruitfly).
c.Caenorhabditiselegans(anematodeworm).
d.Arabidopsisthaliana(asmallweedinthemustardfamily).
e.Musmusculus(mouse).
f. Homosapiens(human).

Chapter1slide

5. Additionaleukaryotesthathavemadeimportant
contributionsingeneticsinclude:
g.Neurosporacrassa(orangebreadmold).
h.Tetrahymena(unicellularprotozoa).
i.Paramecium(unicellularprotozoa).
j.Chlamydomonasreinhardtii(unicellulargreenalga).
k.Pisumsativum(gardenpea).
l. Zeamays(corn).
m.Gallus(chicken).
Figure1.7

Chapter1slide


Chapter1slide

Fig. 1.8 Eukaryotic cells

Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.

Chapter1slide

6. Generalizedfeaturesofhigherplantandanimal
cellsare(Figure1.8):
a.Aplasmamembraneenclosesthecytoplasminboth.
b.Plantcellshavearigidcellwall.
c.Inboth,thenucleuscontainsDNAcomplexedwith
proteinsandorganizedintochromosomes.
d.Thenuclearenvelopeistwolayersofsemipermeable
membranewithporesthatallowmovementof
materials(e.g.,ribosomes)betweennucleoplasmand
cytoplasm.

Chapter1slide

e.Thecytoplasmcontainsmanymaterialsandorganelles.Importantin
geneticsare:
i.Centrioles(basalbodies)areincytoplasmofnearlyallanimals,butnot
inmostplants.Inanimals,apairofcentriolesisassociatedwiththe
centrosomeregionofthecytoplasmwherespindlefibersareorganized
inmitosisormeiosis.
ii.Theendoplasmicreticulum(ER)isadoublemembranesystemthat
runsthroughthecell.ERwithribosomesattachedcollectsproteinsthat
willbesecretedfromthecellorlocalizedtoanorganelle.
iii.Ribosomessynthesizeproteins,eitherfreeinthecytoplasmorattached
tothecytoplasmicsideoftheER.
iv.Mitochondriaarelargeorganellessurroundedbydoublemembrane
thatplayakeyroleinenergyprocessingforthecell.Theycontaintheir
ownDNAencodingsomemitochondrialproteins,rRNAsandtRNAs.
v.Chloroplastsarephotosyntheticstructuresthatoccurinplants.The
organellehasatriplemembranelayer,andincludesagenomeencoding
someofthegenesneededfororganellefunctions.

Chapter1slide

7.Prokaryoteshavenonuclearenvelope.Allbacteriaare
prokaryotes,andmostaresinglecelled,withtheirshape
maintainedbyarigidcellwalloutsidethecellmembrane
(Figure1.9).
a.Bacteriaaredividedintotwodistantlyrelatedgroups:
i.Eubacteria,commonorganismsfoundinother
organismsandintheenvironment,andthetypemost
oftenstudied.E.coliisinthisgroup.
ii.Archaebacteria,normallyfoundinextreme
environments(e.g.,hotsprings,saltormethane
marshes,deepocean).
b.Bacteriagenerallyrangeinsizefrom100nmto10X60
mm.Onespecies,Epulopisciumfishelsoni,is60X800mm,
amilliontimeslargerthanE.coli.

Chapter1slide

Fig. 1.9 Cutaway diagram of a generalized prokaryotic cell

Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.

Chapter1slide