8lolnformaLlcs

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ur naeem ud uln Ahmad khaLLak
ueparLmenL Cf Zoology
lslamla College eshawar
(CharLered unlverslLy)
1he Ma[or |ayers
W DNA rote|n sequences and sLrucLures
genomes and proLeomes
W Databases and
lnformaLlon retr|eva| Lhe WWWeb
W and compuLer rogramm|ng
ut Noeem oJ Jlo lcul
|o|ogy an observaLlonal sclence
____Anecdota|
Wecent|y Lhe naLure of Lhe daLa has radlcally
changed eg sequences are discrete
Wlt ls posslble to Jetetmloe tbe qeoome
sequence of on individuo/ orqonism or c/one
comp/ete/y ond exoct/y
Wt||| cou|d not convert b|o|ogy |nto a
deduct|ve sc|ence!
t||| cou|d not converted b|o|ogy |nto a
deduct|ve sc|ence!
L|fe does obey prlnclples of physlcs and
chemlsLry buL
llfe ls Loo complex dependenL on
h|stor|ca| cont|ngency(acc|dents)
@hls lmpoverlshes or enrlches Lhe
sub[ecL?
1he DA1A of |s too |arge!
Lhe human genome 3 x 10
9
leLLersas
a un|t
1 huge
AbouL 3 C8
Mb
I|gure 11a Growth of Genank the U NC)
genet|c sequence arch|va| databank

Slide 6
A1 Can you search out the current status of this data on the internet
uthor,
I|gure 11b Growth of rote|n Data ank arch|ve of
threed|mens|ona| b|o|og|ca| macromo|ecu|ar structures
Amb|t|ous Goa|s
@hls quallLy and quanLlLy of daLa
____amblLlous goals
llfe clearly as a whole @haL ls Lo
undersLand lnLegraLed aspecLs of Lhe blology
of organlsms
___
Amb|t|ous Goa|s
W @o lnLegraLe Lhe daLa on dlfferenL aspecLs____
lnLo a system
W @o use daLa on conLemporary organlsms as a
basls for trave| backward and forward |n
t|me ____back ln evoluLlonary hlsLory
_____forward Lo dellberaLe sclenLlflc
modlflcaLlon of blologlcal sysLems
appllcaLlons Lo medlclne agrlculLure and
Lechnology
L|fe |n sace and t|me
L|fe |n sace and t|me
0|FF|6ULT T0 0EF|NE L|FE__
___ si/icon/ife interfoce develops more
efine 4 8io/oqico/ Orqonism
#4 oototollyoccottloq selfteptoJocloq
device tbot effects coottolleJ
moolpolotloos of mottet
eoetqy ooJ
lofotmotloo
L|fe |n sace and t|me
W ife on orth is o comp/ex se/f
perpetuotinq system distributed in
spoce ond time
W ls largely composed of discrete
individuo/ orqonisms eocb wltb o
flolte llfetlme ooJ lo most coses wltb
unique feotures
L|fe |n sace and t|me
W |oshere
___local ecosystems sLable unLll Lhelr
envlronmenLs change or Lhey are lnvaded
_____ ach have seLs of sec|es whlch evolve by
Darw|n|an(natura|) se|ect|on or genet|c
dr|ft
W 1he Var|ants by muLaLlon recomblnaLlon of
genes or dlrecL gene Lransfer
L|fe |n sace and t|me
W Lach sec|es ls composed of lndlvldual
organlsms
W rgan|sms ce||s very cell a locallzed
ecosysLem
W And flnally mo|ecu|es
L|fe |n sace and t|me
_______|n t|me
W We see today a snashot__ 33 bllllon years
W @he Lheory of naLural selecLlon raLlonallze
Lhe developmenL of llfe process
W __ Ioss||s nor Ioss|| unA glve a C|ear n|story
W o we read the ast |n contemorary
genomes
W L|ke the #Amerlcan consLlLuLlon"
L|fe |n sace and t|me
_______|n t|me
W We see today a snashot__
33 bllllon years @he Lheory of
naLural selecLlon a raLlonallze process
W Not a very C|ear n|story
___Larth's Ioss|| record
___lossll unA
W o we read the ast |n contemorary genomes
W L|ke the #Amerlcan consLlLuLlon"
Lvo|ut|on |s the Change
ver 1|me
W voluLlon changes Lhe dlsLrlbuLlons of
genotyes and henotyes ln successlve
generaLlons
W @he genoLype ls lnherlLed from a parenL
or parenLs

Slide 17
A1 a parent in case of ? ___ sexual Reporduciton
uthor, 3
Lvo|ut|on |s the Change
ver 1|me
@he osymmetry between qenotype ond
phenotype is the enqine of evo/ution
CenoLype
consLraln
phenoLype
henoLype does
noL lnfluence
genoLype

Slide 18
A1 ' PHENO'PE E!'HER CE'& &ELEC'ED OR EL!N!N'ED N'RE, ND 'H& !ND!REC'L NOD!F CENO'PE W!'H 'HE
P&&CE OF '!NE CENER'!ON F'ER CENER'!ON.
uthor, 33
% Many genoLypes can creaLe Lhe same
phenoLype
W ynonymous and Nonsynonymous
Mutat|ons
epresenLaLlve raLes of synonymous and nonsynonymous subsLlLuLlon ln
mammallan genes aLes are expressed as Lhe number of subsLlLuLlons
per years
Locus nonsynonymous raLe ynonymous raLe
PlsLone
P4 000 394
P2 000 432
lbosomal proLelns
17 006 269
14 002 216
Pemogloblns myoglobln
Alphaglobln 036 438
8eLa globln 078 238
Myoglobln 037 410
lnLerferons
Camma 306 330
alpha 147 324
8eLa 238 333
@able 3 epresenLaLlve raLes of synonymous and nonsynonymous subsLlLuLlon ln
mammallan genes aLes are expressed as Lhe number of subsLlLuLlons
per years
Locus nonsynonymous raLe ynonymous raLe
PlsLone
P4 000 394
P2 000 432
lbosomal proLelns
17 006 269
14 002 216
Pemogloblns myoglobln
Alphaglobln 036 438
8eLa globln 078 238
Myoglobln 037 410
lnLerferons
Camma 306 330
alpha 147 324
8eLa 238 333
@able 3 epresenLaLlve raLes of synonymous and nonsynonymous subsLlLuLlon ln
mammallan genes aLes are expressed as Lhe number of subsLlLuLlons
per years
Locus nonsynonymous raLe ynonymous raLe
PlsLone
P4 000 394
P2 000 432
lbosomal proLelns
17 006 269
14 002 216
Pemogloblns myoglobln
Alphaglobln 036 438
8eLa globln 078 238
Myoglobln 037 410
lnLerferons
Camma 306 330
alpha 147 324
8eLa 238 333
@able 3 epresenLaLlve raLes of synonymous and nonsynonymous subsLlLuLlon ln
mammallan genes aLes are expressed as Lhe number of subsLlLuLlons
per years
Locus nonsynonymous raLe ynonymous raLe
PlsLone
P4 000 394
P2 000 432
lbosomal proLelns
17 006 269
14 002 216
Pemogloblns myoglobln
Alphaglobln 036 438
8eLa globln 078 238
Myoglobln 037 410
lnLerferons
Camma 306 330
alpha 147 324
8eLa 238 333
W Alleles are dlfferenL forms (sequences) of
Lhe same gene Any organlsm LhaL
conLalns Lwo or more coples of a gene can
repeaL Lhe same allele(homozygoslLy eg
@@ or LL) or have dlfferenL alleles of a
gene(heLerozygoslLy eg @L)
W homozygoLes and heLerozygoLes may
have Lhe same phenoLype
@@@all and @L @all
W ou|at|on
a group of slmllar dlscreLe organlsms
W Lvo|ut|on a|ters the comos|t|on and
d|str|but|on of the gene oo|s and
henotyes |n ou|at|ons
W n a ou|at|on a voriety of qenotypes ____
a voriety of phenotypes
W vo/ution hos no direct
/everoqe on qenotype___
W lt ls tbe phenotypes tbot sbow
Jlffeteotlol soccess ot teptoJoctloo
W -oturo/ se/ection___ nhonced
reproduction by fitter{5)is the
most importont
W
W Genet|c Dr|ft Lhe random change ln allellc
frequencles noL ln response Lo selecLlon
W LochasLlc noL a lalr lay
8ad luck or 8ad Cenes
lmporLanL ln small lsolaLed populaLlons
W Genet|c Dr|ft Lhe random change ln allellc
frequencles noL ln response Lo selecLlon
W LochasLlc noL a lalr lay
8ad luck or 8ad Cenes
lmporLanL ln small lsolaLed populaLlons
W Mechan|sms LhaL produce geneLlc varleLy
creaLe Lhe poLenLlal for evoluLlon
W Mutat|ons such as polnL subsLlLuLlons
lnserLlons and deleLlons and
LransposlLlons
W aLes of generaLlon of o|nt
mutat|ons are 10
12
to 10 er
base a|r er generat|on
W ,ototloos ooly ptopose cooJlJotes
fot evolotloooty cbooqe
Mechan|sms
tbot ptoJoce qeoetlc
votlety cteote tbe
poteotlol fot evolotloo
Mechan|sms
tbot ptoJoce qeoetlc
votlety cteote tbe
poteotlol fot evolotloo
Mechan|sms
tbot ptoJoce qeoetlc
votlety cteote tbe
poteotlol fot evolotloo
o|nt Mutat|on
o|nt Mutat|on
ecomb|nat|on
W ecomb|nat|on brlng
dlfferenL locl LogeLher
or spllL Lhem aparL
WecomblnaLlon wlLhln a
gene can creaLe a new
allele
3 Gene du||cat|on fo||owed by
d|vergence
4 Gene f|ow from mlxlng of populaLlons
or from laLeral gene Lransfer beLween specles
Lvo|ut|on can |ncrease or decrease the
var|ety |n gene oo|s
W lf a novel muLaLlon confers selecLlve advanLage
only ln Lhe homozygous sLaLe Lhe gene
may__________ ?
1 AA Aa AA AA AAAA AA AA Aa
2 AA AA aa Aa aa AA AA aa AA
3 AA Aa AA AA aa AA AA aa aa
4 AA aa aa AA aa aa AA aa aa
3 aa aa aa aa aa aa aa aa aa aa
Lvo|ut|on can |ncrease or decrease the
var|ety |n gene oo|s
W lf a novel muLaLlon confers selecLlve advanLage
only ln Lhe homozygous sLaLe Lhe gene
may__________ ?
1 AA Aa AA AA AAAA AA AA Aa
2 AA AA aa Aa aa AA AA aa AA
3 AA Aa AA AA aa AA AA aa aa
4 AA aa aa AA aa aa AA aa aa
3 aa aa aa aa aa aa aa aa aa aa
Lvo|ut|on can |ncrease or decrease the var|ety |n
gene oo|s
W lf a gene arlses LhaL confers selecLlve advanLage
only ln Lhe heLerozygous sLaLe Lhe pool may move
Lowards greaLer varleLy
1 AA AA AA AA AA AA AA AA AA
2 AA Aa AA AA Aa AA AA AA AA
3 AA Aa AA AA Aa AA AA Aa Aa
4 AA AA Aa Aa Aa AA AA AaAa
S Aa Aa Aa AaAa AA Aa Aa Aa
W recesslve alleles LhaL are harmfu| on|y
|n the homozygous state
W hard to remove from a populaLlon
especlally |f heterozygotes have some
comensat|ng advantage
W as ln s|ck|ece|| anaem|a
ln whlch heterotyqotes
have enhanced
reslsLance Lo malarla
M|croLvo|ut|on
small changes ln few genessmall
changes ln phenoLypes
affecLs Lhe lndlvlduals wlLhln a
populaLlon
Modern Lechnlques mlcroevoluLlon aL
Lhe molecular level Lhrough genome
sequences and proLeln expresslon
paLLerns
MAcroLvo|ut|on
Larger changes ln populaLlons as a
whole lncludlng formaLlon of new
specles
@he fossll record provldes a (parLlal)
hlsLory of macroevoluLlon uslng
geologlcal meLhods Lo daLe evenLs
ComparaLlve anaLomy physlology and
embryology provlde addlLlonal clues
mlcro and macroevoluLlon
|||um|nate each other
A ma[or challenge Lo modern blology ls Lo
undersLand how largescale evenLs such
as developmenL of new specles can occur
as tesolt of mlctoevolotloooty eveots