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Picture:C.WilliamBirky,Jr.DepartmentofEcologyandEvolutionaryBiology.TheUniversityofArizona
Genes
Whatisgene?
a) Onegeneoneenzyme.
b) Onegeneoneprotein(polypeptide).
c) GenesaresegmentsofDNAthatcodefor
polypeptidesandRNAs.
Answer...
ProofthatDNAistheGenetic
Material
HersheyandChase
Usedviralparticles(phages)
Determinedgeneticmaterialwascontainedin
DNAratherthanproteincoat
GenesareDNA
Geneticinformationiscarriedinthelinear
sequenceofnucleotidesinDNA
Geneticinformationcontainsinstructionsto
synthesizeproteins
Some Definitions
A gene is a segment of a DNA molecule
(or RNA in some viruses).
OccurinPairsgenesfoundonhomologous
chromosomesinsomaticcells(diploid)
Dominantgenethatisalwaysexpressed
RecessivegenethatisexpressedONLYif
2arepresent
Some Definitions
The phenotype of a cell or organism
is determined jointly by the
organisms genotype and
environment.
The genotype consists of the genes
that control the trait of interest.
Codominantbothgenesarealwaysexpressed
Some Definitions
The genome of an organism is
(i) the sum of all of the DNA in one set
of chromosomes (broad sense);
(ii) the sum of all of the genes in one set
of chromosomes (narrow sense).
gene1gene2gene3
Electron micrograph
Very small circular DNA
Whataresomeoftheimportantstructuralfeaturesof
theDNAdoublehelix?
TheProblem
Humangenome(indiploidcell)=6x109bp
6x109bpx0.34nm=2.04x109nm=2m/cell
Verythin(2.0nm)extremelyfragile
Diameter of nucleus = 5 10 m
DNAmustbepackedtoprotectit,butstillbe
accessibletoallowgeneexpressionandcellular
responsiveness
A
GCT
|||
|
5'PdRPdRPdRPdROH
3
3TCGA
5AGCT
Genesequencescanbewrittendown
andreadlikeanytext
Presentedhereisthesequenceof
nucleotidesinthehumanglobingene
Thethreeregionsofthegenethatspecify
theaminosequencefortheglobinprotein
(EXON)
Howdoesgenesfunction?
CentralDogma:DNAtoRNAtoProtein.
DNA to Protein
Cell Nucleus
Compartmentalized DNA activity
Nuclear pores allow communication
Nuclear lamina and cytoskeleton
mechanically support the nucleus
Nucleus
Whatkindsofmoleculesaretransportedacrossthe
nuclearenvelope?
Genes
Probablyabout3000035000genes
Genedensityvariesalongchromosomes
genesaremostlyineuchromatin,
notintheheterochromatinnearthe
centromeresorontheshortarmsof
acrocentricchromosomes.
Genes
Mostgenes(9095%probably)codefor
proteins.
ThereareasignificantnumberofRNA
onlygenes
ProteincodingGenes
Somegenesarequitehuge:
dystrophin(associatedwithDuchennemuscular
dystrophy)is2.4Mbpandtakes16hourstotranscribe.
Morethan99%ofthisgeneisintron(totalof79introns).
Mostexonsareshort:200bponaverage.
Intronsizevarieswidely,fromtenstomillionsofbase
pairs.
However,highlyexpressedgenesusuallyhaveshortintrons
RNAGenes
ThebestknownRNAgenesare
ribosomalRNAandtransferRNA
genes.
RibosomalRNAgenes:The
nucleolussitsonthesegenes,
whicharesometimescalled
nucleolusorganizerregions.
TransferRNAgenesare
dispersedthroughoutthegenome,
usuallyinsmallclusters.There
are49familiesoftRNAgenes.
OtherRNAGenes
SmallnuclearRNA(snRNA)andsmall
nucleolarRNA(snoRNA)genesfor
ribozymes(catalyticRNAmolecules)which
areinvolvedwithRNAsplicingandRNA
basemodification.
Alsogenesfortelomerase,signal
recognition,Xchromosomeinactivation,
imprinting,andprobablyquiteabitelse.
OtherRNAGenes
MicroRNAs(miRNA)andsmallinterferingRNAs
(siRNA)regulatetranslationofspecificmRNAs
miRNAseemstohavearoleindevelopment.
siRNAisabasisforapopulartechniquecalled
RNAinterference,whichallowsspecificgenes
tobeinactivated.
Agenecluster
Ageneclusterisasetoftwoormoregenes
thatservetoencodeforthesameorsimilar
products.
AnexampleofageneclusteristheHuman
globingenecluster,whichcontainsfive
functionalgenesandonenonfunctional
genewhichcodeforsimilarproteins.
Betaglobingenecluster
thebetaglobincluster,which
contains5verysimilargenes.
GenomicDNA
humangenome
alltheDNApresentinthecell.
thenucleargenome(about3200Mbp)andthe
mitochondrialgenome(16.6kb).
thatnuclearDNA:auniquefractionandseveral
classesofrepeatedsequenceDNA.
Typesofsequencesinthehumangenome
LINEs(longinterspersednuclearelements),
SINEs(shortinterspersednuclear
elements),
Microsatellites(SSRs)aremuchshorter,2
5bprepeats,andmicrosatellitearraysare
foundalloverthegenome.
ProkaryoticChromosome
Manyprokaryotescontainasinglecircular
chromosome.
Prokaryoticchromosomesarecondensedin
thenucleoidviaDNAsupercoilingandthe
bindingofvariousarchitecturalproteins.
DNASupercoilingin
Prokaryotes
anE.colicell
AsingleDNAmoleculecontaining
over4.6millionbasepairs
encodingapproximately4,300
genes.
Thesmallcircletsareplasmids.
ProkaryoticChromosome
BecauseprokaryoticDNAcaninteractwith
thecytoplasm,transcriptionandtranslation
occursimultaneously.
Mostprokaryotescontainonlyonecopyof
eachgene(i.e.,theyarehaploid).
ProkaryoticChromosome
Prokaryoticgenomesareefficientand
compact,containinglittlerepetitiveDNA.
noncodingsequencesaccountforan
averageof12%oftheprokaryoticgenome,
asopposedtoupwardsof98%ofthe
geneticmaterialineukaryotes(Ahnertet
al.,2008)
Prokaryoticplasmids
extrachromosomalDNAmolecules
linearorcircular
typicallysmaller(i.e.,lessthan1,500
kilobases)
encodenonessentialgenes(aidgrowthin
specificconditionsorencodeantibiotic
resistance
Prokaryoticplasmids
Plasmidsreplicateindependentlyoftherest
ofthegenome.
someplasmidsarecapableofintegrating
intochromosomesormovingfromcellto
cell.
haveasingleoriginofreplication
Mostprokaryoticgenomes
areorganizedintopolycistronicoperons,or
clustersofmorethanonecodingregion
attachedtoasinglepromoter,separatedby
onlyafewbasepairs
The lac operon of E. coli is a segment of DNA that includes a promoter, an operator, and the three structural genes
that code for lactose-metabolizing enzymes.
2008 by Sinauer Associates, Inc. All rights reserved. Used with permission.
TheretrovirusgenomeisRNAWhenitentersacell,theRNAgets
translatedtoformreversetranscriptase,whichcopiestheviralRNA
intoDNA.
ThisDNAthenintegratesintothegenome:itbecomesaprovirus.The
provirusDNAistranscribedtomakemoreviralRNAsandproteins.
Thevirusbudsoutthroughthecellmembrane.
Basicstructureofretrovirus:3genes
gag:RNAbindingproteins(viruscore)
pol:reversetranscriptaseandotherprocessingenzymes
env:outercoatprotein
Chromosomes
Whatischromosome?
ChromosomeisacomplexofDNA,RNAand
proteins.Eachchromosomeconsistsofone
DNAmolecule.
Chromosomesbecomevisibleas
cellspreparetodivide
HeterochromatinandEuchromatin
Extremecondensationsilences
expression
Heterochromatin
Darklystainedregionofchromosome
Highlycompactedevenduringinterphase
Usuallyfoundinregionsnearcentromere
Constitutiveheterochromatinremainscondensedmostof
timeinallcells(e.g.,Ychromosomesinfliesandhumans)
Euchromatin
Lightlystainedregionsofchromosomes
Containsmostgenes
Heterochromatinversuseuchromatin
Heterochromatinis
darklystained
Euchromatinis
lightlystained
Cbanding
techniquesstains
constitutive
heterochromatin
nearcentromere
Fig.
Chromosomesineukaryotesand
prokaryotesaredifferent
PROKARYOTES
single chromosome plus plasmids
EUKARYOTES
many chromosomes
circular chromosome
linear chromosomes
made of chromatin, a
nucleoprotein (DNA coiled
around histone proteins)
found in cytoplasm
found in a nucleus
ThelocationofDNAinprokaryotic
cells.
a.nucleus
b.mitochondria
c.cytoplasm
d.vacuole
DNAPROKARYOTES
Isthefollowingsentencetrueorfalse?
Mostprokaryotescontainasingle,circular
DNAmolecule.
DNAEUKARYOTES
EurkaryoticDNAisgenerallylocatedinthe
cell_____intheformofanumberof
chromosomes.
Isthefollowingsentencetrueor
false?
Allorganismshavethesamenumberof
chromosomes.
Whentransformationwasfirstdiscoveredinbacteriaduring
the1940sitsinvestigationbyAveryprovedthat:
a)bacterialculturescanformtumorslikeanimalcells
b)pureDNAcarriesgeneticinformation
c)DNAplusproteinisneededtotransfergenesfrom
onebacterialcelltoanother
d)mutationsoccurspontaneouslythatconvert
harmlessbacteriaintodangerousvirulentstrains
e)bacteriaoftwodifferenttypesmustbemixed
togetherforgenetransfertooccur