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Results and Problems in Cell Differentiation 70 Malgorzata Kloc Jacek Z. Kubiak   Editors Nuclear, Chromosomal, and Genomic Architecture in Biology and Medicine Results and Problems in Cell Differentiation Volume 70 SeriesEditors JacekZ.Kubiak,Rennes,France MalgorzataKloc,Houston,TX,USA Results and Problems in Cell Differentiation is an up-to-date book series that presents and explores selected questions of cell and developmental biology. Each volumefocusesonasingle,well-definedtopic.Reviewsaddressbasicquestionsand phenomena, but also provide concise information on the most recent advances. Together,thevolumesprovideavaluableoverviewofthisexcitinganddynamically expandingfield.ThisseriesisindexedinPubMed. (cid:129) Malgorzata Kloc Jacek Z. Kubiak Editors Nuclear, Chromosomal, and Genomic Architecture in Biology and Medicine Editors MalgorzataKloc JacekZ.Kubiak TransplantImmunology InstituteofGeneticsandDevelopmentofRennes TheHoustonMethodistResearchInstitute CNRS Houston,TX,USA UniversitédeRennes Rennes,France ISSN0080-1844 ISSN1861-0412 (electronic) ResultsandProblemsinCellDifferentiation ISBN978-3-031-06572-9 ISBN978-3-031-06573-6 (eBook) https://doi.org/10.1007/978-3-031-06573-6 ©TheEditor(s)(ifapplicable)andTheAuthor(s),underexclusivelicensetoSpringerNatureSwitzerland AG2022 Thisworkissubjecttocopyright.AllrightsaresolelyandexclusivelylicensedbythePublisher,whether thewholeorpartofthematerialisconcerned,specificallytherightsoftranslation,reprinting,reuseof illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similarordissimilarmethodologynowknownorhereafterdeveloped. Theuseofgeneraldescriptivenames,registerednames,trademarks,servicemarks,etc.inthispublication doesnotimply,evenintheabsenceofaspecificstatement,thatsuchnamesareexemptfromtherelevant protectivelawsandregulationsandthereforefreeforgeneraluse. The publisher, the authors and the editors are safe to assume that the advice and information in this bookarebelievedtobetrueandaccurateatthedateofpublication.Neitherthepublishernortheauthorsor theeditorsgiveawarranty,expressedorimplied,withrespecttothematerialcontainedhereinorforany errorsoromissionsthatmayhavebeenmade.Thepublisherremainsneutralwithregardtojurisdictional claimsinpublishedmapsandinstitutionalaffiliations. ThisSpringerimprintispublishedbytheregisteredcompanySpringerNatureSwitzerlandAG. Theregisteredcompanyaddressis:Gewerbestrasse11,6330Cham,Switzerland Preface The volume reviews the current knowledge and hypotheses on the genome, chro- matin,chromosome,centromere,andnucleolusarchitecture,organization,andevo- lution. It also describes how the changes in the structure, nuclear actin dynamics, mechanosensory, and epigenetic modifications affect cell fate, development, and health.Becauseallthesestructuresandprocessesarephysicallyandmechanistically interconnected, and it is impossible to describe them as independent units, the readers should be aware that the following partitioning of the volume content is very arbitrary. The first part of this volume presents hypotheses and models of the genomenano-architecture,spatialorganization,andevolution.Italsodescribeshow thegenomestructureandmodificationsaffectcellfateanddevelopmentandhowthe spatial genomic helps understand whole-body diseases and multimorbidity. The second part is devoted to chromosome, chromatin, and centromere structure, orga- nization,anddynamicsandhowtheyaffectcellfunctionsanddiseasedevelopment. The third part reviews how epigenetic modification and mechanosensing regulate gene expression, cell cycle, functions, and phenotype, and how they contribute to cancer development. The fourth part describes the architecture and three- dimensionality of the nucleus, the nucleolar organizer region, and nucleolus, and how the architectural changes affect health and disease. The fifth part summarizes our current knowledge on the role of nuclear actin and its dynamics in nuclear architecture,polarity,andgeneexpression. Besidesbeinginformativeandscientificallyinspiring, wehopethatthisvolume will open new avenues for the studies of genomic, chromosomal, and nuclear architecture and their relevance to the establishment of cell function, fate, and developmentofdiseases. Houston,TX MalgorzataKloc Rennes,France JacekZ.Kubiak v Book Abstract This book reviews the most current knowledge on the structure, architecture, functions, and evolution of the genome, chromatin, nucleus, and nucleolus and howtheyaffectcellfateindevelopmentanddiseases.Thebookcoversthefollowing subjects: the genome architecture, organization, and evolution and their effects on cell fate; the chromosomes chromatin and centromere properties, architecture, and dynamics; the mechanosensitive and epigenetic regulators of gene expression and chromatin organization; the architecture of nucleus, nucleolus, and nucleolar orga- nizer;theroleofnuclearactininpolarization,genomeorganization,andfunctions.It alsodescribeshowthearchitecturedisruptionofthesestructuresleadstocancerand otherdiseases.Thisbookshouldgivethereadersanewperspectiveonthenuclear, chromosome, and genomic architecture and their importance for evolution and variouscellfunctions. vii Contents PartI GenomeArchitecture,Evolution,andCellFate 1 NetworksandIslandsofGenomeNano-architectureand TheirPotentialRelevanceforRadiationBiology. . . . . . . . . . . . . . . 3 MichaelHausmann,GeorgHildenbrand,andGötzPilarczyk 2 AUnifiedGenomicMechanismofCell-FateChange. . . . . . . . . . . . 35 MasaTsuchiya,AlessandroGiuliani,GiovannaZimatore, JekaterinaErenpreisa,andKenichiYoshikawa 3 AlterationstoGenomeOrganisationinStemCells,Their DifferentiationandAssociatedDiseases. . . . . . . . . . . . . . . . . . . . . . 71 JoannaM.Bridger,RitaTorresPereira,CristinaPina,SabrinaTosi, andAnnabelleLewis 4 HowGenomesEmerge,Function,andEvolve:LivingSystems Emergence—Genotype-Phenotype-Multilism—Genome/Systems Ecology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 103 TobiasA.Knoch 5 IntegratingMultimorbidityintoaWhole-BodyUnderstanding ofDiseaseUsingSpatialGenomics. . . . . . . . . . . . . . . . . . . . . . . . . 157 SreemolGokuladhas,RoanE.Zaied,WilliamSchierding, SophieFarrow,TayazaFadason,andJustinM.O’Sullivan PartII ChromosomesandChromatinArchitectureandDynamics 6 MitoticAntipairingofHomologousChromosomes. . . . . . . . . . . . . 191 LisaL.Hua,ChristianJ.Casas,andTakashiMikawa 7 CENP-A:AHistoneH3VariantwithKeyRolesinCentromere ArchitectureinHealthyandDiseasedStates. . . . . . . . . . . . . . . . . . 221 DanielJeffery,MarinaLochhead,andGenevièveAlmouzni ix x Contents 8 ScalingRelationshipinChromatinasaPolymer. . . . . . . . . . . . . . . 263 TakahiroSakaueandAkatsukiKimura 9 ChromatinDynamicsDuringEntrytoQuiescenceand CompromisedFunctionalityinCancerCells. . . . . . . . . . . . . . . . . . 279 OliviaGraceDobbsandDawnCoverley 10 FunctionalAspectsofSpermChromatinOrganization. . . . . . . . . . 295 JordiRibas-Maynou,HieuNguyen,HongwenWu, andW.StevenWard PartIII MechanosensitiveandEpigeneticRegulatorsofGene ExpressionandChromatinOrganization 11 TheLINCComplexAssiststheNuclearImportof MechanosensitiveTranscriptionalRegulators. . . . . . . . . . . . . . . . . 315 TomoyoTakataandMikiMatsumura 12 Epigenetic-MediatedRegulationofGeneExpressionfor BiologicalControlandCancer:CellandTissueStructure, Function,andPhenotype. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 339 AndrewJ.Fritz,MohammedElDika,RabailH.Toor, PrincessD.Rodriguez,StephenJ.Foley,RahimUllah,DaijingNie, BodhisattwaBanerjee,DorcasLohese,KirstenM.Tracy, KarenC.Glass,SethFrietze,PrachiN.Ghule,JessicaL.Heath, AnthonyN.Imbalzano,AndrevanWijnen,JonathanGordon, JaneB.Lian,JanetL.Stein,andGaryS.Stein 13 Epigenetic-MediatedRegulationofGeneExpressionfor BiologicalControlandCancer:FidelityofMechanisms GoverningtheCellCycle. . . .. . . . . .. . . . .. . . . . .. . . . .. . . . . .. 375 MohammedElDika,AndrewJ.Fritz,RabailH.Toor, PrincessD.Rodriguez,StephenJ.Foley,RahimUllah,DaijingNie, BodhisattwaBanerjee,DorcasLohese,KirstenM.Tracy, KarenC.Glass,SethFrietze,PrachiN.Ghule,JessicaL.Heath, AnthonyN.Imbalzano,AndrevanWijnen,JonathanGordon, JaneB.Lian,JanetL.Stein,andGaryS.Stein 14 HistoneModificationsinMousePronucleiandConsequences forEmbryoDevelopment. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 397 EwaBorsuk,JuliaMichalkiewicz,JacekZ.Kubiak, andMalgorzataKloc PartIV Nucleus,Nucleolus,andNucleolarOrganizerArchitecture 15 NuclearArchitectureintheNervousSystem. . . . . . . . . . . . . . . . . . 419 KenjiItoandTakumiTakizawa Contents xi 16 NuclearMorphologicalAbnormalitiesinCancer:ASearch forUnifyingMechanisms. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 443 IshitaSinghandTanmayP.Lele 17 NuclearOrganizationinResponsetoStress:ASpecialFocus onNucleoli. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 469 EnkhzayaBatnasan,SonjaKoivukoski,MinttuKärkkäinen, andLeenaLatonen 18 SimulationofDifferentThree-DimensionalModelsofWhole InterphaseNucleiComparedtoExperiments-AConsistent Scale-BridgingSimulationFrameworkforGenome Organization. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 495 TobiasA.Knoch 19 NucleolarOrganizerRegionsasTranscription-BasedScaffolds ofNucleolarStructureandFunction. . . . . . . . . . . . . . . . . . . . . . . . 551 AlexandriaJ.CockrellandJenniferL.Gerton 20 ATransientMystery:NucleolarChannelSystems. . . . . . . . . . . . . 581 ClaudiaC.Preston,AshleyC.Stoddard,andRandolphS.Faustino PartV NuclearActinRoleinPolarization,GenomeOrganization, andGeneExpression 21 CellularPolarityTransmissiontotheNucleus. . . . . . . . . . . . . . . . . 597 PaulinaNastałyandPaoloMaiuri 22 TheRoleofNuclearActininGenomeOrganizationandGene ExpressionRegulationDuringDifferentiation. . . . . . . . . . . . . . . . . 607 SyedRazaMahmood,NadineHosnyElSaid, andPiergiorgioPercipalle 23 NuclearActinDynamicsinGeneExpression,DNARepair, andCancer. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 625 YuanjianHuang,ShengzheZhang,andJae-IlPark

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