2024
Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesis
Li Y, Xu W, Cheng Y, Djenoune L, Zhuang C, Cox A, Britto C, Yuan S, Wang S, Sun Z. Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2402818121. PMID: 39541357, PMCID: PMC11588059, DOI: 10.1073/pnas.2402818121.Peer-Reviewed Original ResearchMeSH KeywordsAxonemal DyneinsAxonemeChlamydomonas reinhardtiiMolecular ChaperonesProtein BiosynthesisRNA, MessengerConceptsDynein axonemal assembly factorsAssembly factorsCytosolic fociOuter dynein armsMacromolecular machinesAxonemal dyneinsAssembly hubDynein armsMolecular condensateLiquid-liquid phase separationCochaperoneEncoding mRNAFoci formationCiliary motilityStable interactionLRRC6Functional significanceRUVBL1DyneinMRNAAssembly of multiple componentsAssemblyPotential mechanismsRUVBL2Biogenesis
2017
Axonemal dynein assembly requires the R2TP complex component Pontin
Li Y, Zhao L, Yuan S, Zhang J, Sun Z. Axonemal dynein assembly requires the R2TP complex component Pontin. Development 2017, 144: 4684-4693. PMID: 29113992, PMCID: PMC5769618, DOI: 10.1242/dev.152314.Peer-Reviewed Original ResearchConceptsDynein arm assemblyCilia motilityTah1-Pih1 (R2TP) complexAxonemal dynein assemblyMacromolecular protein complexesIntermediate chain 1Reptin functionsRUVBL1-RUVBL2R2TP complexAAA ATPasesCytosolic punctaArm assemblyDynein assemblyAssembly factorsCytosolic fociProtein complexesZebrafish embryosCilia defectsInner dynein armsPontinCiliated tissuesMouse testisReptinChain 1Dynein armsX-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon J, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C, Amselem S, Sun Z, Bartoloni L, Blouin J, Mitchison H. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications 2017, 8: 14279. PMID: 28176794, PMCID: PMC5309803, DOI: 10.1038/ncomms14279.Peer-Reviewed Original ResearchAdolescentAdultAnimalsApoptosis Regulatory ProteinsAxonemal DyneinsAxonemeChildChild, PreschoolCiliaCytoplasmDisease Models, AnimalExome SequencingFemaleGenes, X-LinkedGenetic Diseases, X-LinkedHEK293 CellsHSP90 Heat-Shock ProteinsHumansInfant, NewbornIntracellular Signaling Peptides and ProteinsKartagener SyndromeMaleMicroscopy, Electron, TransmissionMicrotubule ProteinsMolecular ChaperonesPedigreePhylogenyPoint MutationProtein FoldingSequence AlignmentSequence DeletionSperm MotilityZebrafish
2013
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6. American Journal Of Human Genetics 2013, 93: 336-345. PMID: 23891469, PMCID: PMC3738827, DOI: 10.1016/j.ajhg.2013.06.007.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAutoantigensAxonemal DyneinsBiomarkersCell Cycle ProteinsCiliaCytoskeletal ProteinsExomeGene Expression RegulationHigh-Throughput Nucleotide SequencingHumansKartagener SyndromeMaleMicrotubule-Associated ProteinsMutationPedigreeProtein BindingProtein Structure, TertiaryProteinsRatsRespiratory SystemTumor Suppressor ProteinsXenopus laevisZebrafishConceptsCytoplasmic protein complexesMotile ciliary functionC-terminal domainWhole-exome resequencingProtein complexesHuman primary ciliary dyskinesiaZMYND10LRRC6Motile ciliaHigh-throughput mutation analysisOtolith defectsPrimary ciliary dyskinesiaCiliary functionMutationsCS domainBiallelic mutationsKnockdownCystic kidneysMutation analysisCiliaCiliary dyskinesiaSAS6ResequencingZebrafishCiliogenesisReptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility
Zhao L, Yuan S, Cao Y, Kallakuri S, Li Y, Kishimoto N, DiBella L, Sun Z. Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 12697-12702. PMID: 23858445, PMCID: PMC3732945, DOI: 10.1073/pnas.1300968110.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAxonemal DyneinsAxonemeCiliaDNA DamageMutationNuclear ProteinsZebrafishZebrafish ProteinsConceptsDNA damage responseCilia motilityDamage responseAxonemal dynein armsReptin functionsDefective cilia motilityVertebrate developmentTranscriptional regulationVivo functionCiliary defectsMutantsPCD genesReptinRUVBL2Expression levelsZebrafishSeahorsesDynein armsAutosomal recessive diseasePrimary ciliary dyskinesiaMotilityMultiple processesArm formationRecessive diseaseInteractors