Genomes,Chromosomes,andDNAWebquest

LuzGonzalez
1. Whatisagenome?
AnorganismscompletesetofDNA,includingallofitsgenes.Eachgenome
containsalloftheinformationneededtobuildandmaintainthatorganism.In
humans,acopyoftheentiregenomemorethan3billionDNAbasepairsis
containedinallcellsthathaveanucleus.
2. Whatisachromosome?Whenarechromosomesvisible?Whatisa
centromere?Howmanychromosomesdopeoplehave?
Inthenucleusofeachcell,theDNAmoleculeispackagedintothreadlike
structurescalledchromosomes.EachchromosomeismadeupofDNAtightly
coiledmanytimesaroundproteinscalledhistonesthatsupportitsstructure.
Chromosomesarenotvisibleinthecellsnucleusnotevenundera
microscopewhenthecellisnotdividing.However,theDNAthatmakesup
chromosomesbecomesmoretightlypackedduringcelldivisionandisthen
visibleunderamicroscope.Mostofwhatresearchersknowaboutchromosomes
waslearnedbyobservingchromosomesduringcelldivision.
Eachchromosomehasaconstrictionpointcalledthecentromere,whichdivides
thechromosomeintotwosections,orarms.Theshortarmofthechromosome
islabeledtheparm.Thelongarmofthechromosomeislabeledtheqarm.
Thelocationofthecentromereoneachchromosomegivesthechromosomeits
characteristicshape,andcanbeusedtohelpdescribethelocationofspecific
genes.
Inhumans,eachcellnormallycontains23pairsofchromosomes,foratotalof
46.Twentytwoofthesepairs,calledautosomes,lookthesameinbothmales
andfemales.The23rdpair,thesexchromosomes,differbetweenmalesand
females.FemaleshavetwocopiesoftheXchromosome,whilemaleshaveone
XandoneYchromosome.
3. Whatisakaryotype?
Akaryotypeisanorganizedprofileofaperson'schromosomes.Two
chromosomesspecifygenderXXforfemaleandXYformale.Therestare
arrangedinpairs,numbered1through22,fromlargesttosmallest.This
arrangementhelpsscientistsquicklyidentifychromosomalalterationsthatmay
resultinageneticdisorder.
4. Isthekaryotypefromamaleorfemale?Howdoyouknow?
ItsamalebecauseithasanXandYchromosome.
5. Predictwhatwouldhappenifapersonhastheincorrectnumberof
chromosomes.Writeyourpredictionhere.

Iknowyoucangetdownsyndrome,butimguessingtherightnumberis
essentialfordevelopment.
6. Doaquickgooglesearchtofindtheanswertoquestion5.
Nondisjunctionforincorrectdistribution,trisomyis3copiesofachromosome,
andmonosomyishavingamissingchromosome.Thiscancausegenetic
disorderssuchasKlinefelterSyndrome,TurnerSyndrome,andDownSyndrome.

1. Inarealcell,whatdoestheDNAmoleculedobeforeitunzips?
Inarealcell,thethemoleculeunwindsfromspoolsmadeofproteins,then
untwists.
2. Whatmoleculebreakstherungs(bases)apart?
Enzymes,specialkindofproteins.
3. Howmanybasepairsareintherealhumangene?
All46chromosomescontain3billionpairs.

Chromosome#

Howmany
Howmany Howmany
chromosomes? basepairs? genes?

Whatisthe
organism?

20

2500
million

22000

HouseMouse

4.4million

3900

Mycobacterium
Tuberculosis

16

11.7million 6300

BakersYeast

TypeofMutation

Description

Effectonresultingprotein

Substitution

amutationthatexchangesone
baseforanother

Sicklecellanemia,silent
mutation,andincomplete
protein.

Insertion

mutationsinwhichextrabase
pairsareinsertedintoanew
placeintheDNA.

useless

Deletion

mutationsinwhichasectionof
DNAislost,ordeleted.

useless

Frameshift

SinceproteincodingDNAis
dividedintocodonsthree

Thisusuallygenerates
truncatedproteinsthatareas

baseslong,insertionsand
uselessas"hefatcatsat"is
deletionscanalterageneso
uninformative.
thatitsmessageisnolonger
correctlyparsed.These
changesarecalledframeshifts.