Embryos, Genes and Birth Defects, Second Edition PDF
Preview Embryos, Genes and Birth Defects, Second Edition
Embryos, Genes and Birth Defects Second Edition Embryos, Genes and Birth Defects, Second Edition Edited by Patrizia Ferretti, Andrew Copp, Cheryll Tickle and Gudrun Moore © 2006 John Wiley & Sons, Ltd. ISBN: 978-0-470-09010-7 Embryos, Genes and Birth Defects Second Edition EDITORS Patrizia Ferretti UCL Institute of Child Health, London, UK Andrew Copp UCL Institute of Child Health, London, UK Cheryll Tickle University of Dundee, UK Gudrun Moore Imperial College, London, UK Copyright(cid:1)2006JohnWiley&SonsLtd,TheAtrium,SouthernGate,Chichester, WestSussexPO198SQ,England Telephone(+44)1243779777 Email(forordersandcustomerserviceenquiries):[email protected] VisitourHomePageonwww.wileyeurope.comorwww.wiley.com AllRightsReserved.Nopartofthispublicationmaybereproduced,storedinaretrievalsystemor transmittedinanyformorbyanymeans,electronic,mechanical,photocopying,recording,scanningor otherwise,exceptunderthetermsoftheCopyright,DesignsandPatentsAct1988orunderthetermsofa licenceissuedbytheCopyrightLicensingAgencyLtd,90TottenhamCourtRoad,LondonW1T4LP,UK, withoutthepermissioninwritingofthePublisher.RequeststothePublishershouldbeaddressedtothe PermissionsDepartment,JohnWiley&SonsLtd,TheAtrium,SouthernGate,Chichester,WestSussex PO198SQ,England,[email protected],orfaxedto(+44)1243770620. 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OtherWileyEditorialOffices JohnWiley&SonsInc.,111RiverStreet,Hoboken,NJ07030,USA Jossey-Bass,989MarketStreet,SanFrancisco,CA94103-1741,USA Wiley-VCHVerlagGmbH,Boschstr.12,D-69469Weinheim,Germany JohnWiley&SonsAustraliaLtd,33ParkRoad,Milton,Queensland4064,Australia JohnWiley&Sons(Asia)PteLtd,2ClementiLoop#02-01,JinXingDistripark,Singapore129809 JohnWiley&SonsCanadaLtd,22WorcesterRoad,Etobicoke,Ontario,CanadaM9W1L1 Wileyalsopublishesitsbooksinavarietyofelectronicformats.Somecontentthatappearsinprintmaynot beavailableinelectronicbooks. LibraryofCongressCataloging-in-PublicationData Embryos,genes,andbirthdefects/editors,PatriziaFerretti...[etal.]. –2nded. p.cm. Includesindex. ISBN-13:978-0-470-09010-7(alk.paper) ISBN-10:0-470-09010-3(alk.paper) l. Abnormalities,Human. 2. Teratogeneis. 3. Embryology,Human. I. Ferretti,Patrizia. [DNLM:1. Embryo–abnormalities. 2. GeneExpressionRegulation, Developmental. QS675E535 2006] QM691.E442006 6160 .043–dc22 2005036439 BritishLibraryCataloguinginPublicationData AcataloguerecordforthisbookisavailablefromtheBritishLibrary ISBN-13978-0-470-09010-7 ISBN-100-470-09010-3 Typesetin10.5/12.5ptMinionbyThomsonPress(India)Limited,NewDelhi,India PrintedandboundinGreatBritainbyAntonyRoweLtd.,Chippenham,Wilts Thisbookisprintedonacid-freepaperresponsiblymanufacturedfromsustainableforestry inwhichatleasttwotreesareplantedforeachoneusedforpaperproduction. ImageofmousepawkindlyprovidedbyTomGlaserandEdOliveroftheUniversityofMichigan. TheBst/þmousehaspreaxialpolydactyly-oneextradigitontheanteriorside(precedingthefirstdigit.) Contents Preface to the First Edition ix Preface to the Second Edition xi Contributors xiii 1 The Relationship Between Genotype and Phenotype: Some Basic Concepts 1 Philip Stanier and Gudrun Moore Introduction 1 Therelationship betweengenotype andphenotype 2 Theroleof‘model’systems 8 Thechangingconcept ofhomology 9 2 Uses of Databases in Dysmorphology 19 Michael Baraitser Whatisasyndrome? 19 Some ofthese problemsareaddressedbydysmorphologydatabases 20 Where databases donothelp 23 Dysmorphology databases 25 Howdatabases work 26 3 Human Cytogenetics 33 J. D. A. Delhanty Introduction 33 Populationcytogenetics 34 Structuralanomalies 35 Thegenesisofchromosome abnormalities 36 Embryo survival 44 Thecauseofhighlevelsofchromosome abnormality inhumanembryos 44 Relative parentalrisks– age,translocations, inversions, gonadalandgerminal mosaics 45 4 Identification and Analysis of Genes Involved in Congenital Malformation Syndromes 51 Peter J. Scambler Geneidentification 51 Biological analysisofgenesimplicated inbirthdefect syndromes 59 vi CONTENTS Animal models 64 Whystudyrare humanbirthdefect syndromes? 70 5 Transgenic Technology and Its Role in Understanding Normal and Abnormal Mammalian Development 79 Valerie Vidal and Andreas Schedl Introduction 79 Transgenic mice 80 Geneticmanipulation usinggenetargetinginEScells 88 Outlook andfuturedevelopments 95 6 Chemical Teratogens: Hazards, Tools and Clues 99 Nigel A. Brown (with revisions by Cheryll Tickle) Introduction 99 Teratogensandhumanmalformations 100 General strategyinchemical teratogenesis 102 Valproicacid 102 Gene–teratogen interaction 106 Teratogensandphenocopies 106 Teratogensasmanipulative tools 108 Teratogensasclues 110 Finalcomments 117 7 The Limbs 123 Patrizia Ferretti and Cheryll Tickle Developmental anatomy ofthehumanlimb 123 Main classesoflimbdefects 125 Contemporary studiesonmechanisms oflimbdevelopment 127 Limbregeneration 140 How, when,andwhereexperimentalstudieselucidate abnormal development 145 Agenda forthefuture 151 8 Brain and Spinal Cord 167 Andrew J. Copp Introduction 167 Overviewofnervoussystemdevelopment 169 Defects ofCNSdevelopment: towardsageneticand developmentalunderstanding 175 Agenda forthefuture 192 9 Birth Defects Affecting the Eye 199 Jane C. Sowden Theeye 199 Development oftheeye 200 Congenital eyedefectsandpaediatric blindness 204 CONTENTS vii Genemutations underlyingcongenital eyedefects 205 Cellularandmolecularmechanisms affecting eyedevelopment andhowtheyelucidate thecausesofabnormaldevelopment 213 Agenda forthefuture 220 10 The Ear 231 Sarah L. Spiden and Karen P. Steel Introduction 231 Development oftheouterandmiddle ear 233 Development oftheinnerear 234 Main classesofeardefects 236 Mechanisms involvedindevelopmentoftheouter andmiddleear 248 Mechanisms underlyinginnereardevelopment 249 Mechanisms underlyingdevelopment ofinnerearsensory epithelia 251 Mechanisms involvedinendolymphhomeostasis 253 Thefuture 254 11 Development of the Enteric Nervous System in Relation to Hirschsprung’s Disease 263 Heather M. Young, Donald F. Newgreen and Alan J. Burns Introduction 263 Anatomy andfunction oftheENS 263 Thebest-characterized developmentaldefectoftheENS– Hirschsprung’sdisease 265 Cellbiology ofENSdevelopment 266 Molecular biologyofENSdevelopmentandHirschsprung-like dysplasias 270 HSCR: currentandfuturetreatments 286 Conclusions 288 12 The Head 301 Gillian M. Morriss-Kay Introduction 301 Developmental anatomy 302 Main classesofcraniofacial defect 317 Cellularandmolecularmechanisms 321 Agenda forthefuture 332 13 The Heart 341 Deborah Henderson, Mary R. Hutson and Margaret L. Kirby Developmental anatomy 341 Major cellpopulationsneeded forheartdevelopment 345 Molecular regulation ofheart development 347 Cardiovascular defects 356 Thefuture 362 14 The Skin 373 Ahmad Waseem and Irene M. Leigh Introduction 373 viii CONTENTS Developmental anatomy 374 Main classesofskindefects 391 Futureperspectives 400 15 The Vertebral Column 411 David Rice and Susanne Dietrich Introduction 411 Developmental anatomy ofthevertebralcolumn 414 Making thevertebral column 421 Agenda forthefuture 444 16 The Kidney 463 Paul J. D. Winyard Introduction 463 Structureandfunction 464 Developmental anatomy ofnephrogenesis 465 Transcription factors 473 Growthfactors andtheirreceptors 479 Survival/proliferation factors 487 Celladhesionmolecules 488 Othermolecules 492 Non-genetic causesofrenalmalformations 492 Agenda forthefuture 495 Conclusion 499 17 The Teeth 515 Irma Thesleff Developmental anatomy 515 Main classesofdefects 517 Cellularandmolecularmechanisms affecting development 520 Howcellularandmoleculardevelopmentalmechanisms assistinelucidatingthecausesofabnormal development 525 Agenda forthefuture 529 Index 537 Preface to the First Edition This book has a single purpose. It is to provide, in an intellectually accessible and concise form, an overview of contemporary understanding of the mechanisms of embryonic development, as they pertain to dysmorphogenesis or the generation of birth defects. In order to do so we will explore a variety of systems and strategic approaches to analysis, and the layout of the book is designed to facilitate this. The first six chapters cover selected modern strategies of analysis and introduce some of the major themes. The subsequent nine chapters, all of which are structured accordingtoacommonpattern,reviewcurrentknowledgeofdevelopmentalmecha- nisms in those organ systems for which there has been particular progress in our understanding. Each of these ‘systems’ chapters presents an agenda for future research directions. It is perhaps necessary to point out that we do not attempt to cover the topics of inherited metabolic disease or those syndromes where the phenotype is exclusively behavioural; the emphasis in this volume is largely on physical birth defects. Recognitionoftheneedforabookofthistypehashadagradualgestation.Vague thoughts on the form that such a book might take have been brought sharply into focus through discussion with my immediate colleagues at the Institute of Child Health:AndrewCopp,PatriziaFerrettiandAdrianWoolf.Itismypleasuretobeable to acknowledge with gratitude their contributions not only as chapter authors but also through our various research interactions and the general support provided as we went about our everyday tasks of running busy reserch teams. The image of the humanembryoonthefrontcoverwasprovidedbyRachelMooreandSimonBrown. Finally, my editor at John Wiley & Sons Ltd, Dr Sally Betteridge, and her assistant, Lisa Tickner, have guided the project to completion with wisdom, common sense, but most of all with patience! Thank you. Peter Thorogood Institute of Child Health PeterThorogood Photographby Nicholas Geddes, MedicalIllustrationUnit,ICH Preface to the Second Edition Until the first edition of this book, Embryos, Genes and Birth Defects, most works published on birth defects concentrated on developmental pathology, clinical genetics, syndromology or the consequences for health care of the affected newborn, butneglectedtodiscussindepththemechanismsthatmighthaveledtoaparticular abnormality.ThelatePeterThorogood,whoeditedthefirstedition,hadthevisionto fill this gap and produced a very successful resource for both clinicians and basic scientists.Theneedforsuchabookisevenmorepressingtodaybecauseconsiderable progress in the understanding of normal and abnormal developmental mechanisms has been made since the first edition was published, opening avenues to the development of novel therapeutic approaches for birth defects, such as gene and stem cell therapy. As colleagues of Peter and contributors to the first edition, we thereforefeltthatitwascrucialtobringthisbookuptodateandwededicatethisnew edition to him. The overall purpose and structure of the book have not changed in this new edition.However,additionalchaptersfocusingonhumancytogenetics,identification ofgenesinvolvedincongenitalmalformationsandspecificreviewsofsensoryorgans have been included to illustrate further strategic approaches to the study of birth defects and how basic developmental biology is providing new paradigms for understanding them. We are grateful to all our colleagues who have managed to find the time to contribute to this book despite their busy schedules. We also wish to thank our editorsatJohnWiley&Sons,JoanMarshandAndreaBaier,fortheirencouragement and professionalism that have made publication of this new edition possible. Patrizia Ferretti Andrew Copp Gudrun Moore Cheryll Tickle
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