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
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