A 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