Nature Communications · 2016 · 107 citations · 35 references
Life SciencesGeneticsMolecular BiologyGene ExpressionMitochondrial BiologyStructural BiologyMitochondrial DiseaseMitochondrial DisordersMitochondrial DysfunctionMitochondrial PhysiologyMitochondrial RibosomesMitochondrial TranslationMissense MutationsMitochondrial Mrna ProcessingMitochondrial Ribosome RegulationMitochondrial Rna Processing DefectsMitochondrial Rna-binding ProteinsMitochondrial Translation DefectsMutationRna-binding Motif
The recognition and translation of mammalian mitochondrial mRNAs are poorly understood. To gain further insights into these processes in vivo, we characterized mice with a missense mutation that causes loss of the translational activator of cytochrome oxidase subunit I (TACO1). We report that TACO1 is not required for embryonic survival, although the mutant mice have substantially reduced COXI protein, causing an isolated complex IV deficiency. We show that TACO1 specifically binds the mt-Co1 mRNA and is required for translation of COXI through its association with the mitochondrial ribosome. We determined the atomic structure of TACO1, revealing three domains in the shape of a hook with a tunnel between domains 1 and 3. Mutations in the positively charged domain 1 reduce RNA binding by TACO1. The Taco1 mutant mice develop a late-onset visual impairment, motor dysfunction and cardiac hypertrophy and thus provide a useful model for future treatment trials for mitochondrial disease.
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Structure validation by Cα geometry: ϕ,ψ and Cβ deviation
Simon C. Lovell, Ian Davis, W.B. Arendall et al. · Proteins Structure Function and Bioinformatics · 2003 · 4.6K citations