Samuel Brady Sondalle, MD, PhD
he/him/his
Clinical FellowAbout
Research
Publications
2023
Human nucleolar protein 7 (NOL7) is required for early pre-rRNA accumulation and pre-18S rRNA processing
McCool M, Bryant C, Huang H, Ogawa L, Farley-Barnes K, Sondalle S, Abriola L, Surovtseva Y, Baserga S. Human nucleolar protein 7 (NOL7) is required for early pre-rRNA accumulation and pre-18S rRNA processing. RNA Biology 2023, 20: 257-271. PMID: 37246770, PMCID: PMC10228412, DOI: 10.1080/15476286.2023.2217392.Peer-Reviewed Original ResearchConceptsPre-rRNA accumulationRibosome biogenesisNonessential roleEukaryotic ribosome biogenesisEssential cellular processesNucleolar stress responsePre-rRNA levelsRRNA processingLikely orthologCellular processesAssociated proteinsTumor suppressorStress responseHuman cellsProtein synthesisProtein 7Human counterpartBiogenesisYeastOrthologsHomologSubcomplexAccumulationRRNATranscription
2019
Fanconi anemia protein FANCI functions in ribosome biogenesis
Sondalle SB, Longerich S, Ogawa LM, Sung P, Baserga SJ. Fanconi anemia protein FANCI functions in ribosome biogenesis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 2561-2570. PMID: 30692263, PMCID: PMC6377447, DOI: 10.1073/pnas.1811557116.Peer-Reviewed Original Research
2018
RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus
Griffin JN, Sondalle SB, Robson A, Mis EK, Griffin G, Kulkarni SS, Deniz E, Baserga SJ, Khokha MK. RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus. Development 2018, 145: dev166181. PMID: 30337486, PMCID: PMC6215398, DOI: 10.1242/dev.166181.Peer-Reviewed Original ResearchConceptsPre-rRNA processingSmall ribosomal subunitCommon disease-associated mutationDisease-associated mutationsRpsA mRNARibosome biogenesisRibosome productionRibosome functionRibosomal subunitCandidate genesHuman mRNAsProtein componentsImpairs expressionSpleen developmentMolecular patterningRPSASpleen anlageMutationsXenopusGenesFirst animal modelUniversal requirementMRNA
2017
Ribosomes Need Straight A’s to Sleep
Sondalle SB, Baserga SJ. Ribosomes Need Straight A’s to Sleep. Cell 2017, 169: 565-567. PMID: 28475888, PMCID: PMC5640166, DOI: 10.1016/j.cell.2017.04.019.Peer-Reviewed Original ResearchThe pre-rRNA processing factor DEF is rate limiting for the pathogenesis of MYCN-driven neuroblastoma
Tao T, Sondalle SB, Shi H, Zhu S, Perez-Atayde AR, Peng J, Baserga SJ, Look AT. The pre-rRNA processing factor DEF is rate limiting for the pathogenesis of MYCN-driven neuroblastoma. Oncogene 2017, 36: 3852-3867. PMID: 28263972, PMCID: PMC5501763, DOI: 10.1038/onc.2016.527.Peer-Reviewed Original ResearchConceptsDigestive organ expansion factorSmall ribosomal subunitPeripheral sympathetic nervous systemPre-ribosomal RNA processingTransgenic zebrafish modelOverexpression of MYCNNeuroblastoma cellsRibosome biogenesisSSU processomeNucleolar factorsRNA processingSympathetic nervous systemRibosomal subunitZebrafish modelHuman neuroblastoma cell lineTumor growth rateHuman neuroblastoma cellsNeuroblastoma cell linesNovel siteZebrafishCell linesNervous systemHuman neuroblastomaDisease penetranceNeuroblastomaA Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism
Paolini NA, Attwood M, Sondalle SB, dos Santos Vieira C, van Adrichem AM, di Summa FM, O’Donohue M, Gleizes PE, Rachuri S, Briggs JW, Fischer R, Ratcliffe PJ, Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers TW, Dinman JD, Baserga SJ, Cockman ME, MacInnes AW. A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. American Journal Of Human Genetics 2017, 100: 506-522. PMID: 28257692, PMCID: PMC5339345, DOI: 10.1016/j.ajhg.2017.01.034.Peer-Reviewed Original ResearchMeSH KeywordsAutism Spectrum DisorderCarrier ProteinsCells, CulturedChildChild, PreschoolCodonDevelopmental DisabilitiesExomeFemaleFibroblastsGenetic VariationHearing LossHumansIntellectual DisabilityMaleMicrocephalyMutationMutation, MissenseNuclear ProteinsOxidative StressProtein BiosynthesisRibosomal ProteinsRibosomesSequence AlignmentSequence Analysis, DNAConceptsMRNA translationRibosomal protein gene mutationsRP gene mutationsAmino acid substitutionsDefective ribosomesSubunit biogenesisCodon translationRibosomal subunitPolysome formationGene mutationsProline residuesDe novo missense mutationsAcid substitutionsLoop regionProtein synthesisBone marrow failurePhenylalanine residuesNovo missense mutationMechanistic distinctionsPrimary cellsMissense mutationsRibosomopathiesProtein gene mutationsUnrelated individualsMutations
2016
The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development
Sondalle SB, Baserga SJ, Yelick PC. The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development. Journal Of Dental Research 2016, 95: 1214-1220. PMID: 27221611, PMCID: PMC5076753, DOI: 10.1177/0022034516651077.Peer-Reviewed Original ResearchConceptsRibosomal proteinsCraniofacial developmentRibosome biogenesis proteinsRibosomal protein functionHuman craniofacial developmentTissue-specific defectsDiverse cell typesHuman ribosomopathiesBiogenesis proteinsTranslational machineryProtein functionDistinct functionsTranslational mechanismsTissue differentiationCell typesWDR43Global defectsProteinExciting researchSurprising similaritiesUnderstanding of rolesRibosomopathiesBiogenesisMachineryMutationsA nucleolar role for the Fanconi anemia pathway protein, FANCI, in rDNA transcription
Sondalle S, Longerich S, Sung P, Baserga S. A nucleolar role for the Fanconi anemia pathway protein, FANCI, in rDNA transcription. The FASEB Journal 2016, 30 DOI: 10.1096/fasebj.30.1_supplement.1048.1.Peer-Reviewed Original ResearchRNA polymerase IRibosome biogenesisDNA repairFanconi anemiaNucleolar proteinsNucleolar roleHeLa cell nuclear extractsPre-ribosomal RNANovel regulatory mechanismCell nuclear extractsDNA repair defectsInterstrand DNA crosslinksMature ribosomesRDNA transcriptionRRNA transcriptionLarge subunitNucleolar functionFA proteinsFANCIUbiquitination stateSubcellular fractionationReduced transcriptionPolymerase IBiogenesisRegulatory mechanisms
2015
The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus
Griffin JN, Sondalle SB, del Viso F, Baserga SJ, Khokha MK. The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus. PLOS Genetics 2015, 11: e1005018. PMID: 25756904, PMCID: PMC4354908, DOI: 10.1371/journal.pgen.1005018.Peer-Reviewed Original ResearchConceptsCranial neural crestCraniofacial developmentRibosome biogenesisRibosome biogenesis proteinsRibosome biogenesis defectsProduction of ribosomesPre-rRNA transcriptionHuman tissue culture cellsMulticellular organismsTissue culture cellsBiogenesis proteinsRDNA transcriptionBiogenesis defectsCraniofacial cartilageRRNA transcriptionNucleolar proteinsP53 rescueNeural crestCell survivalTranscriptionSkeletal phenotypeCulture cellsCritical functionsRibosomopathiesBiogenesis
2013
Human diseases of the SSU processome
Sondalle SB, Baserga SJ. Human diseases of the SSU processome. Biochimica Et Biophysica Acta 2013, 1842: 758-764. PMID: 24240090, PMCID: PMC4058823, DOI: 10.1016/j.bbadis.2013.11.004.Peer-Reviewed Original ResearchConceptsNorth American Indian childhood cirrhosisSSU processome componentsSSU processomeBowen-Conradi syndromeHuman diseasesSmall subunit processomeProduction of ribosomesRibosomal protein assemblyLarge ribonucleoproteinRibosome biogenesisFunctional ribosomesEukaryotic cellsProcessomeProtein assembliesCellular machinesRibosomesRNA cleavageProtein synthesisRibonucleoproteinEukaryotesCirhinAssemblyRRNAsRibosomopathiesBiogenesis