PSYC 3102: Introduction to Behavioral Genetics Tuesday 9/1 /01 The 5 Steps of Protein Synthesis 1!

Photoco"yin# or Transcri"tion $ Transcri"tion %actors enhance or inhi&it transcri"tion $ The '() strands se"arate $ (uclear *() +n*(), is synthesi-ed %ro. one o% the '() strands $ The "rocedure is "er%or.ed che.ically &y a series o% en-y.es +transcri"tion stu%%, that latches on to the '()/ s"lits it do0n the .iddle/ and starts synthesis o% *() 2! 1ditin# or Post$Transcri"tional 2odi%ication $ Introns +3un4 '() in &et0een sections o% codin# se5uence that is re.oved, are s"liced out $ 16ons +codin# se5uence/ .essa#e/&lue"rint that is 4e"t, are s"liced to#ether $ Gives .essen#er *() +.*(), $ (u.&er o% introns varies &y #ene +e6: a.yloid "recursor "rotein has 27 introns, 3! Trans"ortation $ .*() leaves the nucleus $ .*() is trans"orted to the endo"las.ic reticulu. $ .*() attaches itsel% to the ri&oso.e 8! Translation Ter.s: $ ).ino )cid: the &asic &uildin# &loc4 o% "rotein $ Poly"e"tide Chain: series o% a.ino acids lin4ed &y "e"tide &onds +thin4 o% &o6 cars lin4ed to#ether, $ Protein: one or .ore "oly"e"tide chains 3oined and %olded in a 3' con%i#uration +%olds occur due to electrical char#es o% a.ino acids, $ Codon: 3 letter nucleotide se5uence in .essen#er *() that codes %or an a.ino acid +can also re%er to a 3 letter se5uence in '() as 0ell, $ $ $ $ $ $ $ Trans%er *() +t*(), rese.&les a 8$lea% clover and carries an a.ino acid Three nucleotides called an anti$codon serve as a &ar code to tell 0hat a.ino acid it carries )nti$codons are s"eci%ic %or an a.ino acid The t*() &inds to the .*() at the anti$codon The a.ino acid carried &y the t*() attaches to the "oly"e"tide chain The .*() .oves throu#h the ri&oso.e The "rocess continues until a lon# chain o% a.ino acids called a "oly"e"tide is %or.ed

7! Post$Translational 2odi%ication or 9inal )sse.&ly $ $ $ Can .ean a 0hole %loc4 o% thin#s :hat al0ays ha""ens: chain %olds &ac4 on itsel% +che.ical attractions cause loo"s and %olds, and &eco.es 3$di.ensional and is an active &iolo#ical .olecule :hat .i#ht ha""en: o chain #ets sliced u" and &eco.es di%%erent thin#s o chains #et s"liced to#ether e6: the he.o#lo&in .olecule +in red &lood cells/ trans"orts o6y#en %ro. the lun#s to tar#et tissues, is .ade u" o% 2 "oly"e"tide chains and 2 "oly"e"tide chains/ the "roducts o% t0o di%%erent #enes o chains #et s"liced to#ether 0ith di%%erent .olecules e6: addin# a su#ar .a4es a #lyco"rotein/ addin# a %at +li"id, .a4es a li"o"rotein 1ven i% a #ene is transcri&ed and etc!/ so.ethin# can co.e in and de#rade the %inal "roduct &e%ore it can &e used/ essentially shuttin# thin#s o%%

$ DNA

'irectionality o% '() is %ive "ri.e +7;, to three "ri.e +3;, There are certain re#ions called promoter regions in '() that are reco#ni-ed &y the transcri"tion stu%% and 0here it latches on to start transcri"tion Ca" Site si#nals to start transcri"tion Initiation Codon si#nals translation to start There are certain nucleotide se5uences that indicate the &e#innin# and ends o% introns Sto" Codons si#nals the sto" o% translation Poly) Tail .ay hel" "revent the *() %ro. de#radin# 0hen it leaves the nucleus The #ene has the &lue"rint/ reco#nition sites/ "unctuation .ar4s/ etc! 8 letter al"ha&et< 3 letter 0ords< there are no s"aces/ &ut codons can also act as "unctuation .ar4s

O blood type example Co"yin# error .utation occurred/ creatin# an early sto" codon Translation sto"s &e%ore the "ro"er "e"tide is %ull .ade :as not a detri.ental error/ in %act has sho0n to #ive sli#ht "rotection %ro. "e"tic ulcers

Protein Folding 16: =e.o#lo&in carries o6y#en throu#h &lood/ o6y#en ato.s latch to iron ato.s Protein %oldin# is one o% the .ost di%%icult "ro&le.s to solve in .olecular &iolo#y +can;t "redict, Creates a 3' loc4 0hich deter.ines .olecular &indin#/ the 3' sha"e is deter.ined &y %oldin# Too .any "ossi&ilities/ scientists can;t "redict IB2 Su"er Co."uter has &een desi#ned to %i#ure out "rotein %oldin#

Organization of Hemoglobin Genes Chro.oso.e 11: cluster

>>=as PS!"DO#G!N!S: sections very si.ilar to a real #ene/ &ut doesn;t #et transcri&ed or translated>> Chro.oso.e 1?: $ cluster< 2 #enes< so.e sections related to %etal he.o#lo&in

%essed &p Genome errors/.utations +i."ortantC, $ $ $ :hyB 1DEFGTIE( 'oesn;t .atter ho0 it #ets done/ 3ust so it does #et done 'oesn;t Acare; a&out anythin# &ut re"roduction/ conse5uently there is no need to .a4e thin#s si."le unless it inter%eres 0ith the re"roductive syste./ so 3un4 #ets carried on +e#! "seudo #enes in the #eno.e, :hen 0e tal4 a&out hu.an &ehavior/ re.e.&er that it is as co."licated as the #eno.e/ it doesn;t have to .a4e sense/ it is (ET si."le or readily e6"laina&le 90@ o% nucleotides not Aused; $$ Pseudo#enes< introns< 3un4<

'hapter ( ) Geneti* +eg&lation ) De,elopmental Geneti*s ) !piGenesis -a*.gro&nd %e*hanisms 2ethylation Eccurs 0hen a .ethyl #rou" is added to '() :hen there is enou#h .ethyl #rou"s attached/ it turns the #ene o%% and .a4es it di%%icult to transcri&e So.e +&ut not all, .ethylations are reversi&le )&nor.al .ethylation can lead to "ro&le.s $ 16: 92*1 H hy"er.ethylation leads to 9ra#ile I syndro.e< 0hich is the leadin# 2endelian +sin#le #ene, disorder that causes .ental retardation *() S"licin# Gene:
16on 1 16on 2 16on 3 16on 8

:e start as a sin#le %ertili-ed e## 0hich divides into identical cells So 0hy aren;t 0e &orn as &lo&s o% identical cellsB :hy do 0e sto" #ro0in#B 1very cell has identical '()/ so 0hat .a4es cells di%%erentB Genes are not o"eratin# in the sa.e "laces in the sa.e .anner Certain #enes are turned on/ others are turned o%% 'evelo".ent is an orchestration o% #enes &ein# turned on and o%% 'evelo".ent is dyna.ic/ not static :hat %orces underly the dyna.icsB

Ene #ene can result in a lar#e nu.&er o% di%%erent "oly"e"tides

"oly"e"tides

So.eti.es the .*()161 0ill loo4 162 li4e this: 163 Ether ti.es it 0ill loo4 this: 161 162 li4e 168 J20@ o% #enes can do this 16: )PP +a.yloid "rotein "recursor, can "roduce 3 or 8 di%%erent It is thou#ht/ &ut not 4no0n/ that this is es"ecially i."ortant %or the C(S/ as it is the .ost &ioche.ically co."le6 or#an 0e have/ the vast nu.&ers o% "roteins .ay &e due to s"licin#