nobel laureates in genetics

8/9/2019 Nobel Laureates in Genetics

1/45

Workshop On Recent Advances In GeneticsWorkshop On Recent Advances In Genetics

GENETICS 2009GENETICS 2009

1919thth

Fer!ar" 2009Fer!ar" 2009

#$ %$ &ati' (niversit"#$ %$ &ati' (niversit"

)o'hap!r)o'hap!r


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Genetic disc veries

enetic disc veries

that have 'ed t the a*ardhat have 'ed t the a*ard

+ the

+ the

N e' &ri,e

e' &ri,e

+ r -edicine.&h"si ' /"

r -edicine.&h"si ' /"

192 200

92 200


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The study of genetics and its role in causinghuman disease is now widely acknowledged asbeing among the most exciting and influentialareas of medical research. Since 1962 when

Francis Crick !ames "atson and #aurice "ilkinsgained acclaim for their elucidation of the

structure of $%& the %obel 'ri(e for #edicineand)or 'hysiology has been won on 2* occasions

by scientists working in human and moleculargenetics or related fields.


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%obel +ri(e in #edicine)'hysiology

1962

,For their disco-eries concerning the molecularstructure of nucleic acids and its significance forinformation transfer in li-ing material.

Francis /arry Com+ton Crick !ames $ewey "atson #aurice /ugh Frederick "ilkins


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1962

WatsonCrickdouble helix modelfor the structure of $%&.

0ray diffraction +attern of $%& studied by

Wilkins the s+ots forming a cross in the centerdenote a helical structure. The hea-y bands atthe left and right arise from the recurring bases.


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196

Fran3ois !acob &ndr4 5woff !acues #onod

,For their disco-eries concerning genetic control

of en(yme and -irus synthesis.


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196

Lac operonstudied by Jacob, Monod & Lwoff.&7 8n the absence of lactose the lac re+ressor binds $%& and re+resses transcri+tionfrom the lac o+eron.

7 &llolactose or another inducer binds to the lac re+ressor leading to its dissociationfrom $%& and to the +roduction of lac m:%&.


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1966

'eyton :ous

,For his disco-ery of tumourinducing -iruses.


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1966

Rousshowed that -iruses could +roduce tumors in animals. The first -irus he disco-eredthat +roduced tumors is now called Rous sarcoma virus ;which causes sarcomas in chickens7.

:ous concei-ed for the first time that the change of normal cells to cancer cells was notsudden but occurred through se-eral ste+wise changes. 8n the beginning of this +rocessdesignated by :ous as 'tumour proression' the +otential cancer cells are in a


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196@

:obert ". /olley /ar Aobind ?horana #arshall ". %irenberg

,For their inter+retation of the genetic code and its

function in +rotein synthesis.


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196@Bach tri+let of bases codes for a singleamino acid.The genetic code is deenerate,unambiuous, non%overlappin, wit!outpunctuation, and universal.

:ough endo+lasmic reticulum wheretranslation of the genetic code in m:%&into +roteins takes +lace.


12/45


19D

$a-id altimore :enato $ulbecco /oward #artin Temin

,For their disco-eries concerning the interaction

between tumour -iruses and the genetic materialof the cell.


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19D

The existence of en(ymes called reverse transcriptases;that can transcribe -iral :%&into $%& which can integrate into host genome7 in R- retroviruses;such as "$ thehuman immunodeficiency -irus7 was +redicted by "oward *eminin 1962 and theen(ymes were ultimately detected by Temin and inde+endently by /avid #altimorein19D*. Their disco-ery aroused much attention as dogmashaking +roof that geneticinformation can flow ,backward from :%& to $%&.


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19D@

"erner &rber $aniel %athans /amilton E. Smith

,For the disco-ery of restriction en(ymes and their

a++lication to +roblems of molecular genetics.


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19D@

Restriction endonucleases ;also called restrictionen(ymes7 recogni(e and clea-e $%& at s+ecific $%&seuences ;recognition seuences or restrictionsites7 to generate a set of smaller fragments.

The diagram shows how restriction endonucleases

can be used to clone $%&.


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19@*

aru enacerraf !ean $ausset Aeorge $. Snell

,For their disco-eries concerning genetically

determined structures on the cell surface thatregulate immunological reactions.


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19@*

8n humans the genetically determined cell surface antigens that regulate immunologicreactions are called !istocompatibilit+ antiens because they were found to be the basisfor reection of foreign trans+lanted tissue.

The most im+ortant of these is the ma0or !istocompatibilit+ comple1 2M"C3of geneslocated on chromosome 6. There are G classes of #/C molecules of which class l

molecules are found on the surface of all nucleated cells and class llmolecules only oncertain cells of the immune system.


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19@*

. The human maor histocom+atibility com+lex 2M"C3of genes on chromosome 6 which form #/C class 8 ;region & > C7 88 ;region $7 > 888 molecules.#. Class 8 ;left7 > class 88 ;right7 #/C molecules.


19/45


19@G

arbara #cClintock

,For her disco-ery of mobile genetic elements.


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19@G

#obile genetic elements also known as


21/45


19@

#ichael S. rown !ose+h 5. Aoldstein

,For their disco-eries concerning the regulation of

cholesterol metabolism.


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19@

&s a result of the elucidation of the +athways of cholesterol metabolism se-eral grou+s ofli+idlowering drugs were later de-elo+ed including statins, fibrates, & bile acid bindinresins.


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19@D

Susumu Tonegawa

,For his disco-ery of the genetic +rinci+le for

generation of antibody di-ersity.


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19@D&lthough humans ha-e only aboutG**** genes we can +roduce billionsof different antibodies so eachdifferent antibody cannot be +roducedby a single gene.

&ntibodies are +roduced byrearrangement > somaticrecombinationof +ortions of $, / & Jreionsof genes coding for the twohea-y > one light chain of eachantibody molecule

The inter-ening regions of the genes

between these segments are remo-ed.


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19@9

!. #ichael isho+ /arold B. Harmus

,For their disco-ery of the cellular origin of

retro-iral oncogenes.


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19@9isho+ > Harmus identified the

s+ecifiic gene in the :ous sarcoma-irus that causes neo+lastictransformation > found that similargenes were +resent in normal cells.

Cellular genes that cause cancer;oncoenes7 are designated cEnc todistinguish them from -iral oncogenes-Enc.

% b l i i # di i )'h i l


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199G

:ichard !. :oberts 'hilli+ &. Shar+

,For their disco-eries of s+lit genes.



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199G

:oberts and Shar+ in 19DD inde+endently of each other obser-ed that a gene in higher

organisms could be +resent in the genetic material as se-eral distinct and se+arate segments;e1ons & introns7 resembling a mosaic.

:oberts and Shar+ also +redicted that a s+ecific genetic mechanism is reuired to enable s+litgenes to direct the synthesis of +roteins.They +ro+osed that messener R-in higherorganisms has to be edited > called the +rocess splicin where the introns are remo-ed >exons linked together.



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199

Bdward . 5ewis Christiane %IssleinHolhard Bric F. "ieschaus

,For their disco-eries concerning the genetic

control of early embryonic de-elo+ment.



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199The antero+osterior > dorso-entral body

axes of the embryo are established due toconcentration gradients of +roducts of-arious genes ex+ressed in a seuentialmanner.

%IssleinHolhard > "ieschaus studied thebicoid > nanos +roteins in the embryo of the

fruitfly Drosophila melanogaster.



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199D

Stanley . 'rusiner

,For his disco-ery of 'rions a new biological

+rinci+le of infection.



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199Drionsare infectious +rotein +articles ;without any nucleic acid7 which cause misfolding ofhost cellular +roteins. They are the cause of a grou+ of ra+idly +rogressi-e fatalneurodegenerati-e diseases in humans and other mammals known as sponiformencep!alopat!ies ;because the brain becomes s+ongyand full of holes7

/uman +rion diseases include Creut4feldt%Jakob disease 2CJ/3, variant Creut4feldt%Jakobdisease 2vCJ/3, 5erstmann%)traussler%)c!einker s+ndrome, fatal familial insomnia,& kuru.

Stained section of a human brain withs+ongiform change.

The globular domain of human +rion +rotein;'r'7.



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1999

AInter lobel

,For the disco-ery that +roteins ha-e intrinsic

signals that go-ern their trans+ort and locali(ationin the cell.



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1999

#lobel's model of +rotein targeting to s+ecific cellular com+artments. ;S:'= signalrecognition +article7. %ewly synthesi(ed +roteins ;on ribosomes7 ha-e a signal seuence

That guides them to the a++ro+riate subcellular com+artment.



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2***

&r-id Carlsson 'aul Areengard Bric :. ?andel

,For their disco-eries concerning signal

transduction in the ner-ous system.



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2***Carlsson+ro-ed that dopamineis a

neurotransmitter. /e then usedreser+ine on animals to de+letedo+amine from +resyna+tic terminalsand found that the animals lost theirability to mo-e. /e showed that theanimals regained their ability to mo-ewhen he ga-e them 5$E'&.

5reenardshowed what ha++enswhen do+amine and other similartransmitters stimulate a neuron. /edisco-ered the mechanism of sinaltransductionin the ner-ous systemby +rotein kinases when

neurotransmitters bind to rece+tors onthe +ostsyna+tic membrane.

(andel showed that formation ofmemoriesin the brain is a function ofneuronal syna+ses. /e elucidated themechanism of formation of memories.



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2**1

5eland /. /artwell Tim /unt Sir 'aul #. %urse

,For their disco-eries of key regulators of the cell

cycle.



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2**1

'hases of the cell cycle= A1 S A2 # > A*.



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2**1

Cell c+cle reulators= cyclins > cyclinde+endent kinases cause +rogression throughdifferent +hases of the cell cycle.



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2**2

Sydney renner /. :obert /or-it( !ohn B. Sulston

,For their disco-eries concerning genetic

regulation of organ de-elo+ment and+rogrammed cell death.



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2**2

Ste+s in prorammed cell deat!> the genes in-ol-ed.



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+ y gy

2**6

&ndrew J. Fire Craig C. #ello

,For their disco-ery of :%& interference gene

silencing by doublestranded :%&.



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+ y gy

2**6R- interference 2R-i3.

Bxogenous doublestranded :%&s;dsR-7 or endogenous short hair+in:%&s ;s!R-7 are clea-ed by theen(yme dicer into small interfering :%&s;siR-7 which are unwound by ahelicase into single strands.

Ene ;antisense7 strand of si:%& binds to> acti-ates R)C;R%&induced silencingcom+lex7.

:8SCs bind to > clea-e m:%&s in aseuences+ecific manner thus silencings+ecific genes by +re-enting theirtranslation.

R-i has broad thera+eutic a++licationsfrom treatment of cancers to -iralinfections such as /8H > neurodegenerati-e disorders like /untington


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+ y gy

2**D

#ario :. Ca+ecchi Sir #artin !. B-ans Eli-er Smithies

,For their disco-eries of +rinci+les for introducing

s+ecific gene modifications in mice by the use ofembryonic stem cells.


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Workshop On Recent Advances In GeneticsWorkshop On Recent Advances In Genetics

GENETICS 2009GENETICS 2009

1919thth

Fer!ar" 2009Fer!ar" 2009

#$ %$ &ati' (niversit"#$ %$ &ati' (niversit")o'hap!r)o'hap!r

nobel laureates in genetics

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