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Development and Reproduction in Humans and Animal Model Species PDF

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Werner A. Mueller Monika Hassel Maura Grealy Development and Reproduction in Humans and Animal Model Species Development and Reproduction in Humans and Animal Model Species ThiSisaFMBlankPage Werner A. Mueller (cid:129) Monika Hassel (cid:129) Maura Grealy Development and Reproduction in Humans and Animal Model Species WernerA.Mueller MonikaHassel CentreofOrganismalStudies SpezielleZoologie UniversityofHeidelberg Universita¨tMarburgFBBiologie Germany Marburg Germany MauraGrealy PharmacologyandTherapeutics NationalUniversityofIrelandGalway Galway Ireland Translationfromthe5thGermanlanguageedition'Entwicklungsbiologieund ReproduktionsbiologiedesMenschenundbedeutenderModellorganismen'Springer Spektrum,©Springer-VerlagBerlinHeidelberg2012;ISBN:978-3-642-28382-6 ISBN978-3-662-43783-4 ISBN978-3-662-43784-1(eBook) DOI10.1007/978-3-662-43784-1 SpringerHeidelbergNewYorkDordrechtLondon LibraryofCongressControlNumber:2014958295 #Springer-VerlagBerlinHeidelberg2015 Thisworkissubjecttocopyright.AllrightsarereservedbythePublisher,whetherthewholeor part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations,recitation,broadcasting,reproductiononmicrofilmsorinanyotherphysicalway, andtransmissionorinformationstorageandretrieval,electronicadaptation,computersoftware, orbysimilarordissimilarmethodologynowknownorhereafterdeveloped.Exemptedfromthis legalreservationarebriefexcerptsinconnectionwithreviewsorscholarlyanalysisormaterial suppliedspecificallyforthepurposeofbeingenteredandexecutedonacomputersystem,for exclusiveusebythepurchaserofthework.Duplicationofthispublicationorpartsthereofis permitted only under the provisions of the Copyright Law of the Publisher’s location, in its currentversion,andpermissionforusemustalwaysbeobtainedfromSpringer.Permissionsfor usemaybeobtainedthroughRightsLinkattheCopyrightClearanceCenter.Violationsareliable toprosecutionundertherespectiveCopyrightLaw. Theuseofgeneraldescriptivenames,registerednames,trademarks,servicemarks,etc.inthis publicationdoesnotimply,evenintheabsenceofaspecificstatement,thatsuchnamesare exemptfromtherelevantprotectivelawsandregulationsandthereforefreeforgeneraluse. Whiletheadviceandinformationinthisbookarebelievedtobetrueandaccurateatthedateof publication, neither the authors nor the editors nor the publisher can accept any legal responsibilityforanyerrorsoromissionsthatmaybemade.Thepublishermakesnowarranty, expressorimplied,withrespecttothematerialcontainedherein. Cover:Humanfetus,#SebastianKaulitzki/shutterstock Printedonacid-freepaper SpringerispartofSpringerScience+BusinessMedia(www.springer.com) Preface This book is written and designed for students of the biological sciences, undergraduates and graduates and for all those geneticists, biochemists, physicians, teachers and science journalists who are looking for a coherent and readily understandable description of human embryonic development andofthedevelopmentofimportantanimalmodelorganisms.Thisbookis not a collection of review articles composed for professional researches, although we consulted many current bibliographic databases and recent original publications. After an introduction into basic terms we choose an outlinedifferentfromtheorganizationchoseninothertextbooks. Longexperienceasteachersandresearcherswhoareinterestedalsointhe findings obtained in other organisms tells us that nobody reads a textbook fromthefirsttothelastpagewithoutomittingthisorthatchapter.Tocomply withtheactualdemandsofreaderswefirstgiveacomprehensivedescription ofthemostimportantmodelspeciesincludingexperimentalfindings,andof thehumanembryo.Thisrelievesthereadersfromhavingtoreconstructthe complete development of, let’s say, Drosophila or Xenopus by gathering together sections and figures scattered over several chapters. Thereafter comparativeaccountsaregiventogeneraltopicssuchas,forexample,sexual development,theconstructionoftransgenicanimals,thedevelopmentofthe nervoussystem,stemcellresearchandtheevolutionofdevelopment. Thisconcept,however,madeitnecessarytorepeatthisorthatstatement. Thereaderwillprofitfromthisconceptinthat(almost)everychaptercanbe readseparatelywithoutfirstconsultingotherchapters. Separateboxesaredevotedtospecialareasintheperipherysuchas (cid:129) Fromthesoultoinformation:Thehistoryofthedevelopmentalbiology (cid:129) Prenataldiagnostics (cid:129) Disturbancesofhumansexualdevelopment (cid:129) Geneticandmolecularmethodsusedintheanalysisofdevelopment (cid:129) Unsolvedriddles:Primordialmouthandthedirectionofthebodyaxes (cid:129) Onlythreegermlayers? For didactic reasons all figures were drawn not by professional graphic artists butby one ofus (WM). These, the general outline, special areas and emphasisonhumandevelopmentareuniquecharacteristicsofthistextbook. Theliteraturelistattheendofthebookdoesnotonlycontainreferencesbut v vi Preface also further reading. This 6th edition is a translated and updated version of the5thGermanedition. Wearegratefultoallthosecolleagueswhogaveushelpfulcommentsand to the Springer editorial staff, in particular to Miss Anette Lindqvist and AnetteSchneider. Heidelberg,Germany WernerA.Mueller Marburg,Germany MonikaHassel Galway,Ireland MauraGrealy Contents 1 DevelopmentandReproduction:AnIntroduction. . . . . . . . . 1 1.1 DevelopmentasSelf-Construction. . . . . . . . . . . . . . . . 1 1.2 Reproduction:SexVersusNaturalCloning. . . . . . . . . . 4 2 StagesandPrinciplesofAnimalDevelopment: TermsofDevelopmentalBiology. . . . . . . . . . . . . . . . . . . . . . 21 2.1 StagesofDevelopmentinOverview. . . . . . . . . . . . . . . 21 2.2 GeneralPrinciplesinShort. . . . . . . . . . . . . . . . . . . . . . 31 3 TheStart:Fertilization,ActivationoftheEggandaFirst SeriesofCellDivisions(Cleavage). . . . . . . . . . . . . . . . . . . . . 39 3.1 Fertilization. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39 3.2 ActivationoftheEgg. . . . . . . . . . . . . . . . . . . . . . . . . . 45 3.3 Non-ChromosomalSourcesofInformation. . . . . . . . . . 48 3.4 CleavageandtheMPFOscillator. . . . . . . . . . . . . . . . . 51 4 ModelOrganismsinDevelopmentalBiologyI: Invertebrates. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 59 4.1 Seaurchin:BasicModelofAnimalDevelopment inGeneralandSubjectofHistoricallyImportant Experiments. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 59 4.2 AnOutsider:Dictyosteliumdiscoideum. . . . . . . . . . . . . 72 4.3 TheImmortalHydraandFurtherCnidaria,andthe DawnofModernExperimentalBiologyandStem CellResearch. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 77 4.4 Caenorhabditiselegans,ExampleofInvariant CellLineages. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 86 4.5 Spiralians:ARecurringCleavagePattern. . . . . . . . . . . 90 4.6 Drosophila:StilltheModelofReferenceinGenetic andMolecularDevelopmentalBiology. . . . . . . . . . . . . 93 4.7 Tunicates:OftenQuotedasanExampleof‘Mosaic Development’inthePhylumofChordates. . . . . . . . . . 118 5 DevelopmentofImportantModelSpeciesII:Vertebrates. . . 123 5.1 Xenopus:StandardofReferenceforVertebrate Development. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 123 5.2 FavoriteAsianFishes:TheZebrafishDaniorerio andMedakaOryciaslatipes. . . . . . . . . . . . . . . . . . . . . 147 vii viii Contents 5.3 Amniotes:Chick,QuailandChimaerasofBoth. . . . . . . 152 5.4 TheMouse:AProxyforHumans. . . . . . . . . . . . . . . . . 158 6 TheHuman. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 169 6.1 HumanEmbryosandModelOrganisms. . . . . . . . . . . . 169 6.2 FromPrimordialGermCellsuptoFertilization. . . . . . . 170 6.3 FromFertilizationuptothePhylotypicStage. . . . . . . . 171 6.4 InterfaceMother/Child:ThePlacenta. . . . . . . . . . . . . . 181 6.5 HormonalRelationsBetweenChildandMother. . . . . . 186 6.6 ComparativeReview:ThePhylotypicStageof Vertebrates,CommonVersusDistinctFeatures, AspectsofEvolution. . . . . . . . . . . . . . . . . . . . . . . . . . 198 6.7 ConservativePathsVersusNovelties. . . . . . . . . . . . . . 204 7 InPreparationforNewLifeI:SexDetermination andSexualDevelopment. . . . . . . . . . . . . . . . . . . . . . . . . . . . 215 7.1 TheEssenceofSexuality. . . . . . . . . . . . . . . . . . . . . . . 215 7.2 Sex-DeterminingSystemsandGenes. . . . . . . . . . . . . . 216 7.3 EarlySexualDevelopmentofMammalsandHumans. . . 220 7.4 ThePsychologicalSexandPostnatalSexual Development. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 229 8 InPreparationforNewLifeII:Gametogenesis–The DevelopmentofEggCellsandSpermandTheir ProvisionwithHeritableReserves. . . . . . . . . . . . . . . . . . . . . 241 8.1 GermLineandPrimordialGermCells. . . . . . . . . . . . . 241 8.2 Oogenesis:ManufacturingandProvisioningofthe EggCell. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 247 8.3 Spermatogenesis:TheSperm,aGenomewithaMotor... 253 8.4 AnInvisibleInheritance:ImprintedMethylation PatternsfromFatherandMother. . . . . . . . . . . . . . . . . 254 8.5 GeneticConsequencesoftheSoma:GermLine Segregation. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 256 9 SpecificationofBodyAxesandLocalizedFateAllotment byExternalandMaternalCues. . . . . . . . . . . . . . . . . . . . . . . 259 9.1 StartofDifferentiationProgramsinAccordance withPosition. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 259 9.2 DefiningtheBody’sCoordinates. . . . . . . . . . . . . . . . . 260 9.3 EarlyCommitmentofCellTypesbyMaternalFactors. . 266 9.4 AutonomousVersusDependentDevelopment, AsymmetricCellDivisionVersusCellInteractions. . . . 267 10 PositionalInformation,EmbryonicInductionandPattern FormationbyCell-Cell-Communication. . . . . . . . . . . . . . . . 271 10.1 PositionalInformationandGenerationof NewPatterns. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 271 10.2 PatternFormationbyExchangeofSignalBetween AdjacentCells:LateralInhibitionandLateralHelp. . . . 273 10.3 EmbryonicInductionandtheSpemannOrganizer. . . . . 276 Contents ix 10.4 CascadesofInductionandIdentificationofthe SignalMolecules. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 281 10.5 PatternFormation,MorphogensandGradientTheory. . . 288 10.6 ToHaveOne’sHeartintheRightPlace:Left-Right- Asymmetries. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 292 10.7 MorphogeneticFields. . . . . . . . . . . . . . . . . . . . . . . . . 296 10.8 TheAvianWingasaModelLimb. . . . . . . . . . . . . . . . 299 10.9 PatternControlandPositionalMemoryinHydra. . . . . . 304 10.10 PatternCorrectionbyIntercalation. . . . . . . . . . . . . . . . 313 10.11 PeriodicPatterns. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 315 11 ControllingSignals,SignalPropagationandSignal Transduction. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 323 11.1 SignallingSystemsandMechanismsofSignal Propagation:AnOverview. . . . . . . . . . . . . . . . . . . . . . 323 11.2 HowCellsCommunicate:SignalTransmissionand Propagation. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 331 11.3 SignallingMoleculesandAssociatedTransduction Systems. . . .. . . . .. . . . .. . . . .. . . . .. . . . .. . . .. . . 340 11.4 LipophilicSignallingSubstancesandControl ofGeneActivities. . . . . . . . . . . . . . . . . . . . . . . . . . . . 348 12 DevelopmentandGenes. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 353 12.1 DifferentialGeneExpressionastheBasis ofDifferentiation. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 379 12.2 GenesforSpecificationofBodyRegionsandOrgans: TheHoxGenes. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 385 12.3 GenesforProgrammingEyesandCellTypes. . . . . . . . 393 12.4 IrreversibleAlterationsoftheGenomeandof Cell-Type-SpecificGeneticPrograms. . . . . . . . . . . . . . 409 13 Application-OrientedExperimentswithEarlyVertebrate Embryos:Cloning,TransgenicAnimals. . .. . . . . .. . . . . .. . 415 13.1 Cloning,theProductionofIdenticalCopies. . . . . . . . . 415 13.2 ChimerasandTeratomas. . . . . . . . . . . . . . . . . . . . . . . 422 13.3 GeneticManipulationofEmbryos,Knockout MutantsandTransgenicAnimals. . . . . . . . . . . . . . . . . 424 14 Morphogenesis:ShapingbyActiveCellMovement, DifferentialCellAdhesionandCellDeath. . . . . . . . . . . . . . . 433 14.1 ActiveCellMovementandMigration. . . . . . . . . . . . . . 433 14.2 SlidingandSortingbyVirtueofCellAdhesion. . . . . . . 434 14.3 CellAdhesionMoleculesandCellRecognition. . . . . . . 436 14.4 FormationofCurvedSheetsandofBranching TubularStructures. . . . . . . . . . . . . . . . . . . . . . . . . . . . 438 14.5 ShapingbyCellRemoval:Apoptosis,The ProgrammedCellDeath. . . . . . . . . . . . . . . . . . . . . . . . 440

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This book describes human development including sexual reproduction and stem cell research with the development of model organisms that are accessible to genetic and experimental analysis in readily understandable texts and 315 multi-colored graphics. The introductory account of model organisms sele
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