Heart Development PDF
Preview Heart Development
Series Editor PaulM.Wassarman DepartmentofDevelopmentalandRegenerativeBiology MountSinaiSchoolofMedicine NewYork,NY10029-6574 USA OlivierPourquie´ InstitutdeGe´ne´tiqueetdeBiologie CellulaireetMole´culaire(IGBMC) InsermU964,CNRS(UMR7104) Universite´deStrasbourg Illkirch,France Editorial Board BlancheCapel DukeUniversityMedicalCenter Durham,NC,USA B.DenisDuboule DepartmentofZoologyandAnimalBiology NCCR‘FrontiersinGenetics’ Geneva,Switzerland AnneEphrussi EuropeanMolecularBiologyLaboratory Heidelberg,Germany JanetHeasman CincinnatiChildren’sHospitalMedicalCenter DepartmentofPediatrics Cincinnati,OH,USA JulianLewis VertebrateDevelopmentLaboratory CancerResearchUKLondonResearchInstitute LondonWC2A3PX,UK YoshikiSasai DirectoroftheNeurogenesisandOrganogenesisGroup RIKENCenterforDevelopmentalBiology Chuo,Japan PhilippeSoriano DepartmentofDevelopmentalRegenerativeBiology MountSinaiMedicalSchool NewYork,USA CliffTabin HarvardMedicalSchool DepartmentofGenetics Boston,MA,USA Founding Editors A.A.Moscona AlbertoMonroy AcademicPressisanimprintofElsevier 525BStreet,Suite1900,SanDiego,CA92101-4495,USA 225WymanStreet,Waltham,MA02451,USA 32,JamestownRoad,LondonNW17BY,UK LinacreHouse,JordanHill,OxfordOX28DP,UK Firstedition2012 Copyright#2012ElsevierInc.Allrightsreserved. Nopartofthispublicationmaybereproduced,storedinaretrievalsystem ortransmittedinanyformorbyanymeanselectronic,mechanical,photocopying, recordingorotherwisewithoutthepriorwrittenpermissionofthepublisher PermissionsmaybesoughtdirectlyfromElsevier’sScience&TechnologyRights DepartmentinOxford,UK:phone(+44)(0)1865843830;fax(+44)(0)1865853333; email:permissions@elsevier.com.Alternativelyyoucansubmityourrequestonlineby visitingtheElsevierwebsiteathttp://elsevier.com/locate/permissions,andselecting ObtainingpermissiontouseElseviermaterial Notice Noresponsibilityisassumedbythepublisherforanyinjuryand/ordamagetopersons orpropertyasamatterofproductsliability,negligenceorotherwise,orfromanyuse oroperationofanymethods,products,instructionsorideascontainedinthematerial herein.Becauseofrapidadvancesinthemedicalsciences,inparticular,independent verificationofdiagnosesanddrugdosagesshouldbemade ISBN:978-0-12-387786-4 ISSN:0070-2153 ForinformationonallAcademicPresspublications visitourwebsiteatelsevierdirect.com PrintedandboundinUSA 12 13 14 15 9 8 7 6 5 4 3 2 1 C ONTRIBUTORS PhilBarnett Department of Anatomy, Embryology and Physiology, Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, TheNetherlands BrianL.Black Cardiovascular Research Institute and Department of Biochemistry and Biophysics,UniversityofCalifornia,SanFrancisco,California,USA HozanaAndradeCastillo BrazilianNationalLaboratoryforBiosciences,BrazilianAssociationforSynchrotron Light Technology, Rua GiuseppeMa´ximo Scolfaro, Campinas, Sa˜o Paulo,Brazil Wen-YeeChoi DepartmentofCellBiology,HowardHughesMedicalInstitute,DukeUniversity MedicalCenter,Durham,NorthCarolina,USA LionelChristiaen CenterforDevelopmentalGenetics,DepartmentofBiology,NewYorkUniver- sity,NewYork,USA VincentChristoffels Department of Anatomy, Embryology and Physiology, Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, TheNetherlands MalouvandenBoogaard Department of Anatomy, Embryology and Physiology, Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, TheNetherlands Ramo´nA.Espinoza-Lewis CardiovascularResearchDivision,DepartmentofCardiology,Children’sHospital Boston,HarvardMedicalSchool,Boston,Massachusetts,USA AibinHe HarvardStemCellInstitute,HarvardUniversity,Cambridge,Massachusetts,USA RobertG.Kelly DevelopmentalBiologyInstituteofMarseilles-Luminy,Aix-MarseilleUniversite´, CNRSUMR7288,Marseilles,France xi xii Contributors JamesD.Kotick MD Program, Leonard M. Miller School of Medicine, University of Miami, Miami,Florida,USA JoyLincoln Center for Cardiovascular and Pulmonary Research, The Research Institute at Nationwide Children’s Hospital, Department of Pediatrics, The Ohio State University,Columbus,Ohio,USA DavidJ.McCulley CardiovascularResearchInstituteandDepartment of BiochemistryandBiophys- ics,UniversityofCalifornia,SanFrancisco,California,USA KennethD.Poss DepartmentofCellBiology,HowardHughesMedicalInstitute,DukeUniversity MedicalCenter,Durham,NorthCarolina,USA WilliamT.Pu DepartmentofCardiology,Children’sHospitalBoston,Boston,andHarvardStem CellInstitute,HarvardUniversity,Cambridge,Massachusetts,USA PaulR.Riley DepartmentofPhysiology,AnatomyandGenetics,UniversityofOxford,Oxford, OX13PT,UnitedKingdom MichaelSchubert Institut de Ge´nomique Fonctionnelle de Lyon (UCBL, CNRS UMR 5242, ENSL, INRA 1288), Ecole Normale Supe´rieure de Lyon, 69364 Lyon Cedex07,France IanC.Scott PrograminDevelopmentalandStemCellBiology,TheHospitalforSickChildren, andDepartmentofMolecularGenetics,UniversityofToronto,Toronto,Ontario, Canada TiagoJose´ PascoalSobreira Brazilian National Laboratory for Biosciences, Brazilian Association for Synchro- tron Light Technology, Rua Giuseppe Ma´ximo Scolfaro, Campinas, Sa˜o Paulo, Brazil HenriqueMarquesSouza Department of Histology and Embryology, Institute of Biology, University of Campinas(UNICAMP),Campinas,Sa˜oPaulo,Brazil AlbertoStolfi Department of Histology and Embryology, Institute of Biology, University of Campinas(UNICAMP),Campinas,Sa˜oPaulo,Brazil Contributors xiii GeTao MolecularCellandDevelopmentalBiologyGraduateProgram,LeonardM.Miller SchoolofMedicine,UniversityofMiami,Miami,Florida,USA TheadoraTolkin CenterforDevelopmentalGenetics,DepartmentofBiology,NewYorkUniver- sity,NewYork,USA SylviaSuraTrueba Brazilian National Laboratory for Biosciences, Brazilian Association for Synchro- tron Light Technology, Rua Giuseppe Ma´ximo Scolfaro, Campinas, Sa˜o Paulo, Brazil Da-ZhiWang CardiovascularResearchDivision,DepartmentofCardiology,Children’sHospital Boston,HarvardMedicalSchool,Boston,Massachusetts,USA Jose´ Xavier-Neto Brazilian National Laboratory for Biosciences, Brazilian Association for Synchro- tron Light Technology, Rua Giuseppe Ma´ximo Scolfaro, Campinas, Sa˜o Paulo, Brazil PingzhuZhou Department of Cardiology, Children’s Hospital Boston, Boston, Massachusetts, USA P REFACE The development of the embryonic heart is a fascinating process that incorporates myriad molecular and morphogenetic events. These precisely assemble multiple different cell types into a functional beating heart. The first heart beat, early in development, is the most evident sign of life and is essential for embryonic life. The importance of the precise assembly of the embryonicheartisevidentinthehighincidenceofcongenitalheartdefects, which affect several thousand children each year. The past 10 years have seenarenaissanceinthisfieldofresearch,andinthisissueofCurrentTopics in Developmental Biology, important advances in our understanding of the development of the heart are reviewed. In Chapter 1, Scott discusses the early decisions that define the initial cardiac lineages and their differentiation, including the transcriptional cues essential for defining the cardiac cell. Kelly follows in Chapter 2 with a comprehensivelook atthelineages that contributetothedeveloping heart andhowtheseareregulatedduringcardiacmorphogenesis.Theconceptof heartfieldshasbeenattheforefrontinthepastdecade,butthisconcepthas beencontroversial.Xavier-Netoandcolleaguescarefullyexaminetheliter- ature and offer a different perspective on the issue in Chapter 3. The vertebrate heart has been the focus of most studies on heart development, and yet important insights into fundamental aspects of cardiogenesis have been obtained from the chordate, Ciona intestinalis, which are reviewed in Chapter 4 by Tolkin and Christiaen. In subsequent chapters, the regulation of cardiac morphogenesis is explored. Puandcolleagues review thevery important Gata4transcription factor, and its impact on heart development and disease in Chapter 5. Christoffels and colleagues in Chapter 6 tackle the concepts of transcrip- tional regulation of localized gene expression, which is the main driving force for precise cardiac morphogenesis, as well as the root of congenital heartdefects.Animportantaspectofheartdevelopmentistheformationof thevalvesthatensuredirectionalbloodflowfromonechambertothenext. Lincolnandcolleagues inChapter7reviewrecent workon understanding valve development and how this aspect of heart development is deeply relevanttohumandisease.Anotherimportantcomponentoftheheartisthe epicardium, a layer of cells that lines the outside of the heart and provides important signals for cardiac growth. In Chapter 8, Riley reviews the current knowledge on epicardial biology, including its potential role in mammalian cardiac regeneration. xv xvi Preface Congenital heart defects are thought to arise largely from mutations in genesencodingfactorsimportantfor variousaspectsof heartdevelopment. McCulley and Black in Chapter 9 review the genetics of congenital heart disease, providing an extensive and thorough insight into the established andpotentialgeneticabnormalitiesthatresultinabnormalheartformation. Protein-codinggeneshavebeentheprimaryfocusofstudiesonembry- onic development, including that of the heart. In the past several years, an exciting discovery has been the involvement of small noncoding RNAs knownasmicroRNAs,infine-tuningimportantaspectsofcardiacorgano- genesis. Espinoza-Lewis and Wang review the now-extensive body of literatureontheimportanceandbroadimpactofmicroRNA-basedregula- tion of cardiovascular development in Chapter 10. Finally, the past decade has seen progress on one of the most unantici- patedandexcitingfields:vertebratecardiacregeneration.Initiallyexplored in fish and newts, studies of cardiac regeneration have extended to mam- malian hearts, bringing hope that damaged hearts could be endogenously repaired. In Chapter 11, Choi and Poss review progress in understanding the biology of cardiac regeneration. Together, these reviews synthesize the most recent and exciting con- cepts in heart development. The past 10 years have seen extraordinary conceptualandtechnicaladvancesthathaverevolutionizedourunderstand- ingofthemorphogenesisoftheheartand,mostimpressively,theimmedi- aterelevancetohumandiseasehasrisentotheforefrontfromthisresearch. I hope that the readers of this volume will be captivated and inspired by these beautifully written chapters. BENOIT G. BRUNEAU C H A P T E R O N E Life Before Nkx2.5: Cardiovascular Progenitor Cells: Embryonic Origins and Development Ian C. Scott*,† Contents 1. Introduction 2 2. EarlyHeartDevelopment:IsItasSimpleasLocation, Location,Location? 3 3. CPCs:TheBuildingBlocksoftheHeart 5 4. CPCDetermination:TheQuestfor“CardioD” 6 5. SignalingPathwaysandCPCFate 14 6. AMovingStory:EarlyCPCMigrationandFate 17 7. ChangingtheProgram:CPCRelationshiptoReprogramming andTransdifferentiation 18 8. Conclusions:FutureQuestionsandPossibleApplications 21 Acknowledgments 22 References 23 Abstract Developmentoftheheart,likethatofotherorgans,requiresthespecificationof progenitorcellpopulationsthatwillultimatelyformthedifferentiatedcelltypes of the functional organ. A relatively recent and exciting advance in cardiac researchhasbeentheidentificationofcardiovascularprogenitorcells(CPCs), whichhavethepotentialtoformthemajorcelltypesoftheheart(cardiomyo- cytes, smooth muscle, and endothelium/endocardium). This suggests that a common progenitor is responsible for much of heart development and has spurredgreatinterestinuseofCPC-likecellsforcardiacrepair.Inthisreview, CPCdevelopmentisdiscussed,withafocusonearlyeventspriortotheinitia- tionofcardiacgeneexpression.Inparticular,IdiscussevidencethatCPCfateis established during gastrulation, well before a time when heart development has typically been studied. Pathways regulating CPC specification are * PrograminDevelopmentalandStemCellBiology,TheHospitalforSickChildren,Toronto,Ontario,Canada { DepartmentofMolecularGenetics,UniversityofToronto,Toronto,Ontario,Canada CurrentTopicsinDevelopmentalBiology,Volume100 #2012ElsevierInc. ISSN0070-2153,DOI:10.1016/B978-0-12-387786-4.00001-4 Allrightsreserved. 1 2 IanC.Scott examined.TherelationshipbetweenCPCspecificationandmigrationisfurther discussed. Finally, how CPCs may be related to efforts to promote cardiac developmentbyapproachesincludingreprogrammingisdiscussed. 1. Introduction Developmentandgrowthofthehearthasbeenahighlyactiveareaof research in the past few decades. Organogenesis in general requires the specification of progenitor cell(s), their migration to the organ-forming region, interactions and signalingwithin andbetween tissues, morphogen- esis to form the proper organ shape, differentiation of progenitor cells to required specialized and subspecialized cell types, and later growth and functional maturation of the organ. Great progress has been made in delineating the molecular and cellular processes that drive heart tube for- mation and later cardiac morphogenesis and maturation. However, the earliest events of heart development—when the progenitor cells that form the heart arise—have been more difficult to examine. This has largely stemmed from an absence of markers to characterize heart progenitors. A relatively recent and exciting advance in cardiac research has been the identification of cardiovascular progenitor cells (CPCs), which have the potential to form many of the major cell types of the heart (cardio- myocytes, endothelium/endocardium, and smooth muscle; Kattman et al., 2006; Moretti et al., 2006; Wu et al., 2006). This suggests that a common progenitor is responsible for much of heart development and has spurred great interest in use of CPC-like cells for cardiac repair. Excellent reviews in the past year have been focused on early events of heart development (Evans et al., 2010; Lopez-Sanchez and Garcia-Martinez, 2011; Meilhac and Buckingham, 2010; Vincent and Buckingham, 2010), and it is not my intention in this review to revisit events covered in detail in these works. Inthisreview,earlyeventsofCPCdevelopmentarediscussed,priorto the initiation of cardiac gene expression. It should be noted that the contribution of the cardiac neural crest, clearly a key participant in heart development (Hutson and Kirby, 2007), is not covered in this chapter. In particular,Ifocusonevidencefromanimalandinvitrostemcellmodelsthat CPC fate is established during gastrulation, well before a time when heart development has typically been studied. The relationship between embry- onic CPCs and efforts to promote cardiac development by approaches including reprogramming will then be examined. Finally, what I see as futureoutstandingquestionsinCPCbiologyandtherapeuticpotentialwill be discussed. OriginsandDevelopmentofHeartProgenitors 3 2. Early Heart Development: Is It as Simple as Location, Location, Location? Wheredoestheheartcomefrom?Fordecades,ithasbeenknownthat cardiomyocytes arise from bilateral populations of anterior lateral plate mesoderm (ALPM; Dehaan, 1963; Stalsberg and DeHaan, 1969). These elegantchickstudiesshowedthatthesebilateralpopulationslaterfuseatthe midline to form the linear heart tube. Explant of tissues to this precardiac mesoderm area can induce cardiac fate (Schultheiss et al., 1995; Tam et al., 1997).Inthemorerecent“molecularbiologyera,”workfromanumberof groups has shown that this region of the ALPM is privileged for cardiac mesodermdevelopment.Thisisachievedthroughabalanceofsignals,both stimulatoryandinhibitoryforcardiacdifferentiation.ProcardiacBMPsand FGFsaresecretedfromtheadjacentlateralendodermandectoderm,which promote both early myocardial fate and further differentiation of cardio- myocytes (Barron et al., 2000; Reifers et al., 2000; Schultheiss et al., 1997; Shi et al., 2000). In contrast, the neurectoderm secretes WNTs, which inhibits cardiac mesoderm formation at the ALPM stage. The secretion of WNT inhibitors in the anterior portion of the embryo further restricts cardiac fate (Marvin et al., 2001; Schneider and Mercola, 2001). The integration of these signals results in cardiac mesoderm being present in specific bilateral positions in a defined anterior region of the embryo. Indeed, perturbation of these gradients of signals can result in ectopic or an absence of myocardial differentiation. Amajoradvanceinthefieldofearlycardiacfatearosefromstudyofthe Drosophila melanogaster (fruit fly) tinman mutant, which lacks a dorsal vessel (theflyheart equivalent,essentiallyabeatingtube)(Bodmer,1993).Clon- ing of the vertebrate tinman homologue, which encodes the NK-class homeodomain transcription factor Nkx2.5 (also referred to as Csx) fol- lowed. Importantly, analysis of Nkx2.5 expression revealed that it is initiated in two bilateral stripes of the ALPM, mirroring in general the precardiac mesoderm described by embryological studies (Chen and Fishman,1996;Schultheissetal.,1995;Tonissenetal.,1994).Itisimportant tonotethattheNkx2.5-positiveALPMpopulationdoesnotrepresentALL ofthefuturemyocardium.AtALPMstagesinmultiplevertebratespecies,a large portion of the future second-heart field myocardium is largely devoid of Nkx2.5 expression (Brade et al., 2007; Cai et al., 2003; Hami etal.,2011;YutzeyandKirby,2002).Conversely,themajorityof,butnot all Nkx2.5-positive cells will contribute to the heart (Goldstein and Fishman, 1998; Raffin et al., 2000; Redkar et al., 2001). In the fruit fly, dorsalvesselformationandtinmanexpressionaredependentonFGF,BMP (dpp in flies), and WNT signaling (Beiman et al., 1996; Frasch, 1995;
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