V(D)J Recombination

216 Pages·2009·16.09 MB·English

by  Patrick C. Swanson

V(D)J Recombination
ADVANCES INEXPERIMENTALMEDICINEANDBIOLOGY
EditorialBoard:
NATHANBACK,StateUniversityofNewYorkatBuffalo
IRUNR.COHEN,TheWeizmannInstituteofScience
ABELLAJTHA,N.S.KlineInstituteforPsychiatricResearch
JOHND.LAMBRIS,UniversityofPennsylvania
RODOLFOPAOLETfI,UniversityofMilan
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V(D)J Recombination
Editedby
PierreFerrier,MD,PhD
Centred'ImmunologiedeMarseille-Luminy,Universited'AixMarseille,
Marseille,France
Springer Science+Business Media, LLC
Landes Bioscience
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V(D)JRecomination,editedbyPierreFerrier.LandesBioscience1SpringerScience+BusinessMedia,
LLCdualimprint1Springerseries:AdvancesinExperimentalMedicineandBiology.
ISBN:978-1-4419-0295-5
Whiletheauthors,editorsandpublisherbelievethatdrugselectionanddosageandthespecificationsand
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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