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Craniofacial development PDF

642 Pages·2015·94.906 MB·English
by  ChaiYang
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CURRENT TOPICS IN DEVELOPMENTAL BIOLOGY “Ameeting-groundforcriticalreviewanddiscussionofdevelopmentalprocesses” A.A.MosconaandAlbertoMonroy(Volume1,1966) SERIES EDITOR Paul M. Wassarman Department ofDevelopmental andRegenerative Biology IcahnSchool ofMedicine atMount Sinai New York, NY,USA CURRENT ADVISORY BOARD Blanche Capel Susan Mango Wolfgang Driever Philippe Soriano Denis Duboule Cliff Tabin Anne Ephrussi MagdalenaZernicka-Goetz FOUNDING EDITORS A.A. Moscona and Alberto Monroy FOUNDING ADVISORY BOARD Vincent G. Allfrey Dame Honor B.Fell Jean Brachet John C. Kendrew Seymour S. Cohen S.Spiegelman Bernard D.Davis Hewson W.Swift James D. Ebert E.N.Willmer Mac V. Edds, Jr. Etienne Wolff AcademicPressisanimprintofElsevier 225WymanStreet,Waltham,MA02451,USA 525BStreet,Suite1800,SanDiego,CA92101-4495,USA TheBoulevard,LangfordLane,Kidlington,OxfordOX51GB,UK 125LondonWall,London,EC2Y5AS,UK Firstedition2015 Copyright©2015ElsevierInc.Allrightsreserved. Nopartofthispublicationmaybereproducedortransmittedinanyformorbyanymeans, electronicormechanical,includingphotocopying,recording,oranyinformationstorageand retrievalsystem,withoutpermissioninwritingfromthepublisher.Detailsonhowtoseek permission,furtherinformationaboutthePublisher’spermissionspoliciesandour arrangementswithorganizationssuchastheCopyrightClearanceCenterandtheCopyright LicensingAgency,canbefoundatourwebsite:www.elsevier.com/permissions. Thisbookandtheindividualcontributionscontainedinitareprotectedundercopyrightby thePublisher(otherthanasmaybenotedherein). Notices Knowledgeandbestpracticeinthisfieldareconstantlychanging.Asnewresearchand experiencebroadenourunderstanding,changesinresearchmethods,professionalpractices, ormedicaltreatmentmaybecomenecessary. Practitionersandresearchersmustalwaysrelyontheirownexperienceandknowledgein evaluatingandusinganyinformation,methods,compounds,orexperimentsdescribed herein.Inusingsuchinformationormethodstheyshouldbemindfuloftheirownsafetyand thesafetyofothers,includingpartiesforwhomtheyhaveaprofessionalresponsibility. Tothefullestextentofthelaw,neitherthePublishernortheauthors,contributors,oreditors, assumeanyliabilityforanyinjuryand/ordamagetopersonsorpropertyasamatterof productsliability,negligenceorotherwise,orfromanyuseoroperationofanymethods, products,instructions,orideascontainedinthematerialherein. ISBN:978-0-12-408141-3 ISSN:0070-2153 ForinformationonallAcademicPresspublications visitourwebsiteathttp://store.elsevier.com/ CONTRIBUTORS AnnitaAchilleos StowersInstituteforMedicalResearch,KansasCity,Missouri,USA ZhengwenAn CraniofacialDevelopmentandStemCellBiology,DentalInstitute,KingsCollegeLondon, London,UnitedKingdom KristinB.Artinger DepartmentofCraniofacialBiology,UniversityofColoradoAnschutzMedicalCampus, Aurora,Colorado,USA RebeccaBabb CraniofacialDevelopmentandStemCellBiology,DentalInstitute,KingsCollegeLondon, London,UnitedKingdom AnamariaBalic ResearchPrograminDevelopmentalBiology,InstituteofBiotechnology,Universityof Helsinki,Helsinki,Finland RyanF.Bloomquist SchoolofBiology,PetitInstituteforBioengineeringandBioscience,GeorgiaInstituteof Technology,Atlanta,Georgia,USA JeffreyO.Bush PrograminCraniofacialBiology;DepartmentofCellandTissueBiology,andInstitutefor HumanGenetics,UniversityofCaliforniaSanFrancisco,SanFrancisco,California,USA YangChai CenterforCraniofacialMolecularBiology,UniversityofSouthernCalifornia,LosAngeles, California,USA DavidE.Clouthier DepartmentofCraniofacialBiology,UniversityofColoradoAnschutzMedicalCampus, Aurora,Colorado,USA GageCrump EliandEdytheBroadCIRMCenterforRegenerativeMedicineandStemCellResearchat theUniversityofSouthernCalifornia,LosAngeles,California,USA TamarEigler DepartmentofBiologicalRegulation,WeizmannInstituteofScience,Rehovot,Israel JianQ.Feng DepartmentofBiomedicalSciences,TexasA&MBaylorCollegeofDentistry,Dallas,Texas, USA TeresaE.Fowler SchoolofBiology,PetitInstituteforBioengineeringandBioscience,GeorgiaInstituteof Technology,Atlanta,Georgia,USA xiii xiv Contributors ScottE.Fraser MolecularandComputationalBiology,UniversityofSouthernCalifornia,LosAngeles, California,USA JenniferC.Fuchs DepartmentofCraniofacialDevelopment&StemCellBiology,King’sCollegeLondon, London,UnitedKingdom AliceF.Goodwin PrograminCraniofacialBiology,andDepartmentofOrofacialSciences,Universityof CaliforniaSanFrancisco,SanFrancisco,California,USA YongchaoGou StateKeyLaboratoryofOralDiseases,DepartmentofOrthodontics,WestChina HospitalofStomatology,SichuanUniversity,Chengdu,China,andCenterfor CraniofacialMolecularBiology,SchoolofDentistry,UniversityofSouthernCalifornia, LosAngeles,USA RebeccaGreen DepartmentofCellBiologyandAnatomy,AlbertaChildren’sHospitalResearchInstitute, andMcCaigBoneandJointInstitute,UniversityofCalgary,Calgary,Alberta,Canada BenediktHallgrimsson DepartmentofCellBiologyandAnatomy,AlbertaChildren’sHospitalResearchInstitute, andMcCaigBoneandJointInstitute,UniversityofCalgary,Calgary,Alberta,Canada BelindaR.Hauser MatrixandMorphogenesisSection,LaboratoryofCellandDevelopmentalBiology, NationalInstituteofDentalandCraniofacialResearch,NationalInstitutesofHealth, Bethesda,Maryland,USA RobertJ.Hinton DepartmentofBiomedicalSciences,TexasA&MBaylorCollegeofDentistry,Dallas,Texas, USA MatthewP.Hoffman MatrixandMorphogenesisSection,LaboratoryofCellandDevelopmentalBiology, NationalInstituteofDentalandCraniofacialResearch,NationalInstitutesofHealth, Bethesda,Maryland,USA MamoruIshii DepartmentofBiochemistryandMolecularBiology,USCNorrisComprehensiveCancer Center,KeckSchoolofMedicine,UniversityofSouthernCalifornia,LosAngeles, California,USA RulangJiang DivisionofDevelopmentalBiology,andDivisionofPlasticSurgery,CincinnatiChildren’s HospitalMedicalCenter,Cincinnati,Ohio,USA JunjunJing StateKeyLaboratoryofOralDiseases,WestChinaHospitalofStomatology,Sichuan University,Sichuan,PRChina Contributors xv RebeccaKim PrograminCraniofacialBiology,andDepartmentofOrofacialSciences,Universityof CaliforniaSanFrancisco,SanFrancisco,California,USA OphirD.Klein PrograminCraniofacialBiology;DepartmentofOrofacialSciences;Departmentof Pediatrics,andInstituteforHumanGenetics,UniversityofCaliforniaSanFrancisco,San Francisco,California,USA YuLan DivisionofDevelopmentalBiology,andDivisionofPlasticSurgery,CincinnatiChildren’s HospitalMedicalCenter,Cincinnati,Ohio,USA RalphMarcucio DepartmentofOrthopaedicSurgery,SanFranciscoGeneralHospital,OrthopaedicTrauma Institute,UniversityofCaliforniaSanFrancisco,SanFrancisco,California,USA RobertE.Maxson DepartmentofBiochemistryandMolecularBiology,USCNorrisComprehensiveCancer Center,KeckSchoolofMedicine,UniversityofSouthernCalifornia,LosAngeles, California,USA AmyE.Merrill DepartmentofBiochemistryandMolecularBiology,KeckSchoolofMedicine,andCenter forCraniofacialMolecularBiology,OstrowSchoolofDentistry,UniversityofSouthern California,LosAngeles,California,USA InbalMichailovici DepartmentofBiologicalRegulation,WeizmannInstituteofScience,Rehovot,Israel WashingtonMio DepartmentofMathematics,FloridaStateUniversity,Tallahassee,Florida,USA LindseyMork EliandEdytheBroadCIRMCenterforRegenerativeMedicineandStemCellResearchat theUniversityofSouthernCalifornia,LosAngeles,California,USA CynthiaL.Neben DepartmentofBiochemistryandMolecularBiology,KeckSchoolofMedicine,University ofSouthernCalifornia,LosAngeles,California,USA CarolinaParada CenterforCraniofacialMolecularBiology,UniversityofSouthernCalifornia,LosAngeles, California,USA ChristopherJ.Percival DepartmentofCellBiologyandAnatomy,AlbertaChildren’sHospitalResearchInstitute, andMcCaigBoneandJointInstitute,UniversityofCalgary,Calgary,Alberta,Canada PedroA.Sanchez-Lara DirectorofCraniofacialGenetics,Children’sHospitalLosAngeles;AssistantProfessorof ClinicalPediatrics;AssistantProfessorofClinicalPathology,andResearchInstructorCenter forCraniofacialMolecularBiology,HermanOstrowSchoolofDentistry,Universityof SouthernCalifornia,LosAngeles,California,USA xvi Contributors RichardA.Schneider DepartmentofOrthopaedicSurgery,UniversityofCaliforniaatSanFrancisco,San Francisco,California,USA PaulT.Sharpe CraniofacialDevelopmentandStemCellBiology,DentalInstitute,KingsCollegeLondon, London,UnitedKingdom JingjingSun DepartmentofBiochemistryandMolecularBiology,USCNorrisComprehensiveCancer Center,KeckSchoolofMedicine,UniversityofSouthernCalifornia,LosAngeles, California,USA AndreL.P.Tavares DepartmentofCraniofacialBiology,UniversityofColoradoAnschutzMedicalCampus, Aurora,Colorado,USA IrmaThesleff ResearchPrograminDevelopmentalBiology,InstituteofBiotechnology,Universityof Helsinki,Helsinki,Finland Man-ChunTing DepartmentofBiochemistryandMolecularBiology,USCNorrisComprehensiveCancer Center,KeckSchoolofMedicine,UniversityofSouthernCalifornia,LosAngeles, California,USA J.ToddStreelman SchoolofBiology,PetitInstituteforBioengineeringandBioscience,GeorgiaInstituteof Technology,Atlanta,Georgia,USA PaulA.Trainor StowersInstituteforMedicalResearch,KansasCity,Missouri,andDepartmentofAnatomy &CellBiology,UniversityofKansasMedicalCenter,KansasCity,Kansas,USA LeA.Trinh MolecularandComputationalBiology,UniversityofSouthernCalifornia,LosAngeles, California,USA AbigailS.Tucker DepartmentofCraniofacialDevelopment&StemCellBiology,King’sCollegeLondon, London,UnitedKingdom EldadTzahor DepartmentofBiologicalRegulation,WeizmannInstituteofScience,Rehovot,Israel AnaAngelovaVolponi CraniofacialDevelopmentandStemCellBiology,DentalInstitute,KingsCollegeLondon, London,UnitedKingdom JianXu CenterforCraniofacialMolecularBiology,SchoolofDentistry,UniversityofSouthern California,LosAngeles,USA Contributors xvii JingyueXu DivisionofDevelopmentalBiology,CincinnatiChildren’sHospitalMedicalCenter, Cincinnati,Ohio,USA NathanM.Young DepartmentofOrthopaedicSurgery,SanFranciscoGeneralHospital,OrthopaedicTrauma Institute,UniversityofCaliforniaSanFrancisco,SanFrancisco,California,USA TianYu CraniofacialDevelopmentandStemCellBiology,DentalInstitute,KingsCollegeLondon, London,UnitedKingdom TingweiZhang CenterforCraniofacialMolecularBiology,SchoolofDentistry,UniversityofSouthern California,LosAngeles,USA,andStateKeyLaboratoryofOralDiseases,Departmentof Prosthodontics,WestChinaHospitalofStomatology,SichuanUniversity,Chengdu,China PREFACE INTRODUCTION TO CRANIOFACIAL DEVELOPMENT Thedevelopmentofthecraniofacialcomplexliesatthecoreofwhatmakes us human. Theface housesour sensory organsandthe craniumcradlesthe brain.Anyaberrationsincraniofacialdevelopmentcanthereforejeopardize fundamentalprocessesthatallowustosurvive,thrive,andenjoyourworld: our senses of sight, hearing, smell, and taste; our ability to eat, drink, and breathe; our intellectual capacity. Moreover, the uniquely individual face representsoneofthemostimportantandsalientpartsoftheidentitywepre- senttoourpeers.Forallofthesereasons,craniofacialdevelopmenthaslong been a source of fascination to scientists. Beginninginthemid-twentiethcentury,itbecameclearthattheunique challenges of understandingcraniofacial biology arebestsuitedto aninter- disciplinaryteamapproach,dueinlargeparttoluminariesofthefieldsuchas HansSpemann,HildeMangold,andSamuelPruzansky.Thecontributions to the present volume continue this tradition, building on scientific and technological advances in developmental biology, molecular genetics, and medicine to bring a multitude of perspectives to bear on issues pertaining to craniofacial development. The authors hail from the fields of develop- mentalpatterning,cellandmolecularbiology,stemcellbiology,evolution- ary biology, clinical genetics, and everything in between. As a result, this bookprovidesacomprehensiveoverviewofthecurrentstatusofourunder- standing of craniofacial development. Thisbookisorganizedintothreesections.Thefirstsectiondiscussesaspects ofcraniofacialmorphogenesisandregenerationonmultiplescales,fromcellsto tissues to organs. Many of our unique organs are housed in the craniofacial region,yettheregulatorymechanismsofcell–cellinteractions,tissuedevelop- ment,and organogenesis share common features withthosethatcontrolthe development of the rest of the body. The major families of growth factors (BMP/TGF-β,FGF,Wnt,andHh)areallinvolvedintheregulationofcra- niofacial development. The signaling specificity of these growth factors lies withthecells,whichhaveuniquetranscriptionfactorsandothergeneticand epigeneticregulatorsthatcollectivelydeterminetheoutcomeofgrowthfactor signalingduringcraniofacialmorphogenesis.Thechaptersinthissectionoffer evolutionary and embryonic perspectives on the regulation of the facial xix xx Preface muscles,mandible,tongue,palate,temporomandibularjoint,cranialsutures, tooth,andeardevelopment.Thesestudiesprovideanin-depthoverviewofcell fatedeterminationandhowcontinuedtissue–tissueinteractionscontrolcranio- facialdevelopmentandregeneration. The second section focuses on craniofacial patterning and signaling mechanisms. The principal goal of developmental biology is to understand how tissues are induced and patterned to generate different organs at the proper location and time. Evidence suggests that signals from the anterior visceral endoderm, anterior neural ridge, and mesoderm are required for thedevelopmentofcraniofacialstructures.Theformationofthevertebrate “New Head” depends upon the presence of cranial neural crest cells and additionalsensoryplacodes.Multiplemoleculeshavebeenidentifiedascru- cialregulatorsfortissue–tissueinteractionsduringcraniofacialdevelopment. Usingfish,chick,mouse,andotheranimalmodels,thechaptersinthissec- tionprovideasummaryofourcurrentunderstandingofhowearlycranio- facial patterning is established and how signaling networks control craniofacial morphogenesis. The third section of the volume is centered around disease models, human genetics, genomics,andnew approaches in dynamicimaging. Ani- mal models have clearly played an important role in our understanding of normalandabnormalcraniofacialdevelopment.Yetdespitethevastamount of knowledge that we have gained from animal studies, shortcomings remain:for example,apparently onlyonethird of mousemutations associ- ated with craniofacial defects have been linked to mutations of the orthologous human genes with similar dysmorphologies. It is not known what defects might arise from mutations of the other two thirds of these genes, as some of these mutations result in early embryonic lethality. It is of paramount importance that there are constant interactions between researchersinvolvedinhumanandanimalstudies,asthiswillensurearapid translationoffundamentaldiscoveriesintotreatmentandpreventionofcra- niofacial malformations in humans. Craniofacial malformations represent complexmultifactorialdiseases,amplifiedorattenuatedbygene–geneinter- actions, gene–environmental interactions, environmental influences, and mechanicalfactors.Therapidtechnologicaladvancementanddecreasedcost ofsequencingthehumangenomewillundoubtedlyfacilitatethediscovery of genetic mutations involved in human craniofacial malformations. Fur- thermore,thisnewinformationwillfacilitatethedesignandimplementation ofprecisionmedicine.Finally,theimprovedspatialandtemporalresolution Preface xxi ofdynamicandliveimagingwillalsoelevateourstudyofcraniofacialdevel- opment to the next level of insight and excellence. It has been an extremely rewarding experience working with so many talented and accomplished scientists and clinicians in putting together this book.Iwouldliketoexpressmytremendousgratitudetothemforthetime andefforttheydevotedtothisproject.Itismyhopethatourauthors’diverse perspectiveswillprovideawell-roundedviewofthecurrentstateofaffairs in craniofacial development and a springboard for further advances in the field. YANG CHAI, DDS, PhD Professor George and MaryLou Boone Chair in Craniofacial Biology University of Southern California

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