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V(D)J Recombination PDF

216 Pages·2009·16.09 MB·English
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V(D)J Recombination ADVANCES INEXPERIMENTALMEDICINEANDBIOLOGY EditorialBoard: NATHANBACK,StateUniversityofNewYorkatBuffalo IRUNR.COHEN,TheWeizmannInstituteofScience ABELLAJTHA,N.S.KlineInstituteforPsychiatricResearch JOHND.LAMBRIS,UniversityofPennsylvania RODOLFOPAOLETfI,UniversityofMilan RecentVolumesinthisSeries Volume642 THESARCOMEREANDSKELETALMUSCLEDISEASE EditedbyNigelG.Laing Volume643 TAURINE7 EditedbyJunichiAzuma Volume644 TROPOMYOSIN EditedbyPeterGunning Volume645 OXYGENTRANSPORTTOTISSUEXXX EditedbyPerLiss,PeterHansell,DuaneF.Bruley,andDavidK.Harrison Volume646 EARLYNUTRITIONPROGRAMMINGANDHEALTHOUTCOMESINLATERLIFE EditedbyBertholdKoletzko,TamasDesci,DenesMolnar,andAnneDelaHunty Volume647 THERAPEUTICTARGETSOFTHETNFSUPERFAMILY EditedbyIqbalGrewal Volume648 ARTERIALANDALLIEDCHEMORECEPTORS EditedbyConstancioGonzalez,ColinA.Nurse,andChrisPeers Volume649 MOLECULARMECHANISMSOFSPONDYLOARTHROPATHIES EditedbyCarlosLopez-Larrea,andRobertoDlaz-Pena Volume650 V(D)JRECOMBINATION EditedbyPierreFerrier AContinuationOrderPlanisavailableforthisseries.Acontinuationorderwillbringdeliveryofeachnew volumeimmediatelyuponpublication.Volumesarebilledonlyuponactualshipment.Forfurtherinformation pleasecontactthepublisher. V(D)J Recombination Editedby PierreFerrier,MD,PhD Centred'ImmunologiedeMarseille-Luminy,Universited'AixMarseille, Marseille,France Springer Science+Business Media, LLC Landes Bioscience SpringerScience+BusinessMedia,LLC LandesBioscience Copyright©2009LandesBioscienceandSpringerScience+BusinessMedia,LLC Allrightsreserved. Nopartofthisbookmaybereproducedortransmittedinanyformorbyanymeans,electronicormechani cal,includingphotocopy,recording,oranyinformationstorageandretrievalsystem,withoutpermission inwritingfromthepublisher,withtheexceptionofanymaterialsuppliedspecificallyforthepurposeof beingenteredandexecutedonacomputersystem;forexclusiveusebythePurchaserofthework. PrintedintheUSA. SpringerScience+BusinessMedia,LLC,233SpringStreet,NewYork,NewYork10013,USA http://www.springer.com Pleaseaddressallinquiriestothepublishers: LandesBioscience,1002WestAvenue,Austin,Texas78701,USA Phone:51216376050;FAX:512/6376079 http://www.landesbioscience.com ThechaptersinthisbookareavailableintheMadameCurieBioscienceDatabase. http://www.landesbioscience.comlcurie V(D)JRecomination,editedbyPierreFerrier.LandesBioscience1SpringerScience+BusinessMedia, LLCdualimprint1Springerseries:AdvancesinExperimentalMedicineandBiology. ISBN:978-1-4419-0295-5 Whiletheauthors,editorsandpublisherbelievethatdrugselectionanddosageandthespecificationsand usageofequipmentanddevices,assetforthinthisbook,areinaccordwithcurrentrecommendations andpracticeatthetimeofpublication,theymakenowarranty,expressedorimplied,withrespectto materialdescribedinthisbook.Inviewoftheongoingresearch,equipmentdevelopment,changesin governmentalregulationsandtherapidaccumulationofinformationrelatingtothebiomedicalsciences, thereaderisurgedtocarefullyreviewandevaluatetheinformationprovidedherein. LibraryofCongressCataloging-in-PublicationData V(D)Jrecombination1editedbyPierreFerrier. p.;em.-- (Advancesinexperimentalmedicineandbiology;v.650) Includesbibliographicalreferencesandindex. ISBN978-1-4419-0295-5 I. Geneticrecombination.2. DNA-bindingproteins. 1.Ferrier,Pierre,1951-II.Series:Advancesin experimentalmedicineandbiology;v.650. [DNLM:I.Recombination,Genetic.2.VOJRecombinases.3.DNA-BindingProteins.4.Recombinant Proteins. WIAD559v.65020091QU475V3932009] QH443.V352oo9 571.9'648--dc22 2009011105 PREFACE v(D)Jrecombination:forthecommunityofimmunologistsanddevelopmental biologists,themolecularroutebywhichBandTlymphocytesacquiretheirunique functionofaffordingadaptiveimmunity.Yet,formany-fromexperiencedscientists totrainees-itrepresentsa(rathertoo)sophisticatedprocesswhosetrueinsightis excessivelydemanding.However,whennotsimplyconsideredasaprivateground forafewaficionados,itcanbeseenasawayofunderstandinghowmaturelympho cytescarryontheirbasicfunctions. Forthegroupofaficionados-whichincludes thiseditor-it is an elegantparadigmfeaturing manyfascinating evolutionary achievements ofwhichthebiological worldalonehasthesecret. Theseinclude a subtlebiochemicalprinciplemostlikelyhijackedsome470millionyearsagofrom anancestral geneinvaderandsincethencleverlyadaptedbyjawedvertebratesto preciselycleaveandrearrangetheirantigenreceptor(IgandTCR)loci.Thisinvader woulditselfhaveassignedtheservicesofthenonhomologousendjoining(NHEJ) DNArepairmachineryaswellasvariousDNApolymerasesortransferasestowork inconcertwithdevelopmentalcluesinlymphoidcelllineagestogenerateanimmune repertoireandefficienthostsurveillancewhileavoidingautoimmunity. Recently,importantnewrefinementsinthesesystemshaveemerged,continuing tochallengeourknowledgeandbeliefs.Thesearejustthetopicscoveredbythesenior authors-allestablishedleadersinthisfield-andtheircolleagues,whilstwritingthe various chapters in V(D)JRecombination. Theyleadusthrough thelatest findings concerningthebiochemicalpropertiesoftheV(D)Jrecombinase(Swanson),itsburied andpotentiallyharmful transposase andtranslocaseactivities (Oettinger;Roth), the increasingimportanceofNHEJ,whosedysfunctioncausessevereforms ofimmune deficiencies(deVillartay),andthenumerousfacetsinthecontrolofgenerearrangement vianon-codingRNAtranscriptionandexquisitelyregulatedchangesinchromosomal structure(Corcoran;Feeney;Jouvin-Marche;Krangel;OltzandSpicuglia). Burningprogressonregulatoryaspectshasincludedthelarge-scaledynamics andnuclearcompartmentalizationofIg andTCRloci(Singh),theanticipated-but difficulttoascertain-roleofdedicatedtranscriptionfactors (Zhang),therelation shipsbetweenstructuralpropertiesoftherecombinationcoreapparatusanditscell cyclephase-dependant accumulation/degradation or connection tothechromatin v vi Preface template(Desiderio),theevolutionoftheseregulatoryaspectsthroughoutthephy logeny(Hsu), andhowabnormalities intherecombination apparatus/process can contributetolymphoidmalignancies(Macintyre). Overall, V(DPRecombinationrepresents atouroverthis,inallrespects,vital process andIwouldliketogreatlyacknowledge theefforts oftheseeminentcol leaguesforconciselydescribingitssomanyaspects.Webelievethateveryadvance inthisfieldcontributestostrengtheningknowledgeoffundamentalimportanceboth academicallyandclinically.Together,wehopethattheresultisanattractivebook whichwillcaptivate itsreaders andencourage sometopursue further digging in thisseeminglyinexhaustiblemineofbiologicalresources. ABOUT THEEDITOR... PIERRE FERRIER is a Principal Investigator and Research Director at the Centred'ImmunologiedeMarseille-Luminy(CIML),France. Hehas also worked asaDirectorofMarseille-NiceGenopole,alocal consortiumofmore than twenty laboratoriesaimedatdevelopinghigh-throughputresearchtechniquesingenomics. Mainresearchinterestsincludetheanalysisofthemolecularmechanismsresponsible forthecontrolofgeneexpressionandrecombinationprogramsduringhematopoietic cell developmentand pathogenesis. He is a memberofseveral national and inter nationalscientificorganizationsincludingthe Institut Nationaldela Sante etde la Recherche Medicale (Inserm), the Agence Nationale de la Recherche (ANR), the Association pour la Recherche sur le Cancer(ARC), the Human Frontier Science ProgramOrganization(HFSPO),andtheUniversiteVirtuelle MedicaledeMonaco (UVMM).PierreFerrierreceivedhisacademicdegrees fromMontpellier(MD)and Marseille (PhD) Universities, France. He was a post-doctoral fellow (1986-90) in the laboratory ofProf. F.W.Alt atthe ColumbiaUniversity College ofPhysicians and Surgeons, New York,NY,USA. vii PARTICIPANTS IratxeAbarrategui MarieBonnet CentreforEpigenetics Centred'Immunologie BiotechResearchandInnovationCentre deMarseille-Luminy Copenhagen Universited'AixMarseille Denmark CNRS,UMR6102 Inserm,U631 VahidAsnafi Marseille INSERMEMIU0210 France HopitalNecker-EnfantsMalades AP-HP VickyL.Brandt UniversityParis-Descartes DepartmentofPathologyandProgram Paris inMolecularPathogenesis France TheHelenL.andMartinS.Kimmel CenterforBiologyandMedicine KheiraBeldjord SkirballInstituteforBiomolecular INSERMEMIU0210 Medicine HopitalNecker-EnfantsMalades NewYorkUniversitySchool AP-HP ofMedicine UniversityParis-Descartes NewYork,NewYork Paris USA France RobinMilleyCobb DanielJ.Bolland DepartmentofMicrobiology LaboratoryofChromatinandGene andImmunology Expression VanderbiltUniversity BabrahamInstitute Nashville,Tennessee BabrahamResearchCampus USA Cambridge UK AnneE.Corcoran LaboratoryofChromatinandGene Expression BabrahamInstitute BabrahamResearchCampus Cambridge UK ix x Participants Sai'daDadi PatriziaFuschiotti Centred'Immunologie DepartmentofImmunology deMarseille-Luminy UniversityofPittsburgh Universited'AixMarseille SchoolofMedicine Marseille,France Pittsburgh,Pennsylvania CNRS,UMR.6102 USA Inserm,U631 Marseille EllenHsu France DepartmentofPhysiology andPharmacology StephenDesiderio StateUniversityofNewYork DepartmentofMolecularBiology HealthScienceCenteratBrooklyn andGenetics Brooklyn,NewYork InstituteforCellEngineering USA TheJohnsHopkinsUniversity SchoolofMedicine KristenJohnson Baltimore,Maryland DepartmentofMolecularGenetics USA andCellBiology HowardHughesMedicalInstitute Jean-PierredeVillartay TheUniversityofChicago INSERM,U768,UniteDeveloppement Chicago,Illinois Normal USA etPathologiqueduSystemeImmunitaire and MaryElizabethJones FacultedeMedecineReneDescartes DepartmentofImmunology UniversiteParis-Descartes DukeUniversityMedicalCenter and Durham,NorthCarolina AP-HP,HopitalNeckerEnfantsMalades USA Serviced'Immunologieet d'HematologiePediatrique EvelyneJouvin-Marche Paris INSERM,U823 France Faculte deMedecine Institutd'Oncologie/Developpement Ann1.Feeney AlbertBonniotetInstitutFrancais TheScrippsResearchInstitute duSang DepartmentofImmunology UniversiteJosephFourier-GrenobleI LaJolla,California Grenoble USA France PierreFerrier MichaelS.Krangel Centred'Immunologie DepartmentofImmunology deMarseille-Lwniny DukeUniversityMedicalCenter Universited'AixMarseille Durham,NorthCarolina CNRS,UMR.6102 USA Inserm,U631 Marseille SushilKumar France DepartmentofMedicalMicrobiology andImmunology, CreightonUniversityMedicalCenter Omaha,Nebraska USA

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v(D)J recombination: for the community of immunologists and developmental biologists, the molecular route by which B and T lymphocytes acquire their unique function of affording adaptive immunity. Yet, for many-from experienced scientists to trainees-it represents a (rather too) sophisticated proces
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