2016
Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts
Li Y, Tian X, Ma M, Jerman S, Kong S, Somlo S, Sun Z. Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts. Journal Of The American Society Of Nephrology 2016, 27: 3628-3638. PMID: 27153923, PMCID: PMC5118478, DOI: 10.1681/asn.2015091004.Peer-Reviewed Original ResearchConceptsSevere patterning defectsMultiple model organismsSmall GTPase essentialDefective hedgehog signalingCystic kidneysNumber of phenotypesKidney cyst formationKidney cystsJoubert syndromeGTPase essentialZebrafish leadsPatterning defectsBiogenesis defectsModel organismsCilia biogenesisLoss of functionCyst progressionDefective ciliaHistone deacetylase inhibitorsHuman mutationsNull mutationHedgehog signalingHypomorphic natureRescue experimentsNeural tubeHypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1
Soens ZT, Li Y, Zhao L, Eblimit A, Dharmat R, Li Y, Chen Y, Naqeeb M, Fajardo N, Lopez I, Sun Z, Koenekoop RK, Chen R. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genetics In Medicine 2016, 18: 1044-1051. PMID: 26820066, PMCID: PMC4965339, DOI: 10.1038/gim.2015.205.Peer-Reviewed Original ResearchConceptsLeber congenital amaurosisLCA genesRescue experimentsEarly-onset formPhotoreceptor cell deathWhole-exome sequencingDysfunctional photoreceptorsRetinal disease genesCause of diseaseSystemic abnormalitiesLCA cohortMouse retinaRetinal degenerationHypomorphic mutationsCongenital amaurosisLCA patientsCilia-associated genesPhotoreceptor functionProband's mutationCell deathDiseaseProbandsSingle probandHuman diseasesCilia function
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 ResearchConceptsDNA damage responseCilia motilityDamage responseAxonemal dynein armsReptin functionsDefective cilia motilityVertebrate developmentTranscriptional regulationVivo functionCiliary defectsMutantsPCD genesReptinRUVBL2Expression levelsZebrafishSeahorsesDynein armsAutosomal recessive diseasePrimary ciliary dyskinesiaMotilityMultiple processesArm formationRecessive diseaseInteractors
2011
Qilin Is Essential for Cilia Assembly and Normal Kidney Development in Zebrafish
Li J, Sun Z. Qilin Is Essential for Cilia Assembly and Normal Kidney Development in Zebrafish. PLOS ONE 2011, 6: e27365. PMID: 22102889, PMCID: PMC3216947, DOI: 10.1371/journal.pone.0027365.Peer-Reviewed Original ResearchConceptsCilia assemblyIFT complex B proteinsKidney developmentForward genetic screenCoiled-coil domainEssential roleKidney cystsNormal kidney developmentGenetic screenMutant phenotypeVestigial organelleNovel genesPolycystic kidney diseaseCilia formationDeletion analysisB geneB proteinB mutantsGenetic analysisMeckel-Gruber syndromeN-terminusFunctional analysisRescue experimentsZebrafishHuman diseases
2010
Intraflagellar Transport Proteins Are Essential for Cilia Formation and for Planar Cell Polarity
Cao Y, Park A, Sun Z. Intraflagellar Transport Proteins Are Essential for Cilia Formation and for Planar Cell Polarity. Journal Of The American Society Of Nephrology 2010, 21: 1326-1333. PMID: 20576807, PMCID: PMC2938599, DOI: 10.1681/asn.2009091001.Peer-Reviewed Original ResearchConceptsPlanar cell polarityIntraflagellar transport proteinsCell polarityCilia formationIFT mutantsIFT proteinsDefective planar cell polarityTransport proteinsCore PCP componentsKidney cyst formationConserved roleEarly developmental stagesCiliary assemblyIFT genesPCP componentsCilia formMulticiliated cellsPronephric ductGene productsMaternal contributionBasal bodiesMultiple organismsDevelopmental stagesMaternal depositionProtein
2009
Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion
Duldulao NA, Lee S, Sun Z. Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. Development 2009, 136: 4033-4042. PMID: 19906870, PMCID: PMC2778746, DOI: 10.1242/dev.036350.Peer-Reviewed Original ResearchConceptsCilia formationVivo functionJoubert syndromeSeries of deletionsSonic hedgehog (Shh) signalingCilia localizationCiliary localizationNull mutantsPoint mutantsGene productsHedgehog signalingArl13bCiliary defectsMutantsKidney ductsZebrafishCiliaAutosomal recessive disorderAbnormal ultrastructureScorpionsRecessive disorderLocalizationRecent studiesKnockdownSignaling
2008
Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway
DiBella LM, Park A, Sun Z. Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway. Human Molecular Genetics 2008, 18: 595-606. PMID: 19008302, PMCID: PMC2722215, DOI: 10.1093/hmg/ddn384.Peer-Reviewed Original ResearchConceptsKidney cyst formationTOR pathwayCiliary mutantsLeft-right asymmetry defectsVertebrate body planCell surface organellesMultiple signaling pathwaysElongation of ciliaLeft-right asymmetryMorpholino knockdownVertebrate cellsAsymmetry defectsBody planCiliary genesEnvironmental signalsCyst formationKnockdown animalsSensory organellesCilia functionSurface organellesCiliary signalsProtein productsSignaling pathwaysSame pathwayWnt pathwayCystic Kidney Gene seahorse Regulates Cilia-Mediated Processes and Wnt Pathways
Kishimoto N, Cao Y, Park A, Sun Z. Cystic Kidney Gene seahorse Regulates Cilia-Mediated Processes and Wnt Pathways. Developmental Cell 2008, 14: 954-961. PMID: 18539122, DOI: 10.1016/j.devcel.2008.03.010.Peer-Reviewed Original ResearchConceptsWnt pathwayCiliary signalsImportant sensory organelleKidney cyst formationNoncanonical Wnt pathwayCanonical Wnt pathwayLeft-right asymmetryCilia assemblySensory organellesCiliated tissuesCellular eventsCell typesSeahorsesCiliary functionPathwayCiliaCyst formationDishevelledInversinGastrulationVertebratesOrganellesTranscriptsProteinCascade
2002
Rad9 Phosphorylation Sites Couple Rad53 to the Saccharomyces cerevisiae DNA Damage Checkpoint
Schwartz MF, Duong JK, Sun Z, Morrow JS, Pradhan D, Stern DF. Rad9 Phosphorylation Sites Couple Rad53 to the Saccharomyces cerevisiae DNA Damage Checkpoint. Molecular Cell 2002, 9: 1055-1065. PMID: 12049741, DOI: 10.1016/s1097-2765(02)00532-4.Peer-Reviewed Original ResearchBinding SitesCell Cycle ProteinsCheckpoint Kinase 1Checkpoint Kinase 2DNA DamageForkhead Transcription FactorsMutationNuclear ProteinsPhosphorylationProtein KinasesProtein Serine-Threonine KinasesProtein Structure, TertiarySaccharomyces cerevisiaeSaccharomyces cerevisiae ProteinsTranscription Factors
1998
Rad53 FHA Domain Associated with Phosphorylated Rad9 in the DNA Damage Checkpoint
Sun Z, Hsiao J, Fay D, Stern D. Rad53 FHA Domain Associated with Phosphorylated Rad9 in the DNA Damage Checkpoint. Science 1998, 281: 272-274. PMID: 9657725, DOI: 10.1126/science.281.5374.272.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceCell Cycle ProteinsCheckpoint Kinase 2DNA DamageDNA ReplicationFungal ProteinsG2 PhaseHydroxyureaMethyl MethanesulfonateMitosisMutationOligopeptidesPeptidesPhosphorylationProtein KinasesProtein Serine-Threonine KinasesSaccharomyces cerevisiaeSaccharomyces cerevisiae ProteinsTranscription, GeneticConceptsRad53 phosphorylationRad53 protein kinaseDNA damage signalsDNA damage checkpointProtein-binding domainsCell cycle phase arrestRNR3 transcriptionRad9 proteinFHA domainDamage checkpointG2/M cell cycle phase arrestCell divisionProtein kinaseSaccharomyces cerevisiaeDamage signalsRad9DNA damageRad53Phase arrestPhosphorylationCheckpointDomainCerevisiaeTranscriptionKinase