2022
Mitochondrial DNA variation across 56,434 individuals in gnomAD
Laricchia KM, Lake NJ, Watts NA, Shand M, Haessly A, Gauthier L, Benjamin D, Banks E, Soto J, Garimella K, Emery J, Consortium G, Rehm HL, MacArthur DG, Tiao G, Lek M, Mootha VK, Calvo SE. Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Research 2022, 32: gr.276013.121. PMID: 35074858, PMCID: PMC8896463, DOI: 10.1101/gr.276013.121.Peer-Reviewed Original ResearchMeSH KeywordsCell NucleusDNA, MitochondrialGene FrequencyGenomeGenome, MitochondrialHumansMitochondriaSequence Analysis, DNAConceptsMtDNA variantsMitochondrial DNA variationPathogenic mtDNA variantsWhole genome sequencesUnique mtDNA variantsGenome Aggregation DatabasePopulation allele frequenciesAllele frequenciesMtDNA copy numberMitochondrial genomeNuclear sequencesVariant callsDNA variationIndividuals of EuropeanMtDNA genomeAncestral populationsMtDNA moleculesGenomic databasesHeteroplasmic variantsNuclear DNAHomoplasmic variantsMitochondrial originFalse positive variant callsMtDNA copiesMitochondrial haplogroups
2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Lake N, Webb B, Stroud D, Richman T, Ruzzenente B, Compton A, Mountford H, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa M, Schadt E, Houten S, Byrnes J, McCormick E, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo S, Mootha V, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk M, Metodiev M, Thorburn D. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. American Journal Of Human Genetics 2017, 101: 239-254. PMID: 28777931, PMCID: PMC5544391, DOI: 10.1016/j.ajhg.2017.07.005.Peer-Reviewed Original ResearchConceptsSmall mitoribosomal subunitMitoribosomal subunitHuman oxidative phosphorylation (OXPHOS) systemMitochondrial protein translationOxidative phosphorylation systemMitochondrial translation defectQuantitative proteomic analysisSpecific cellular pathwaysLeigh syndromeLentiviral-mediated expressionMitoribosomal proteinsMitochondrial ribosomesOXPHOS subunitsMitochondrial translationOXPHOS defectsProtein translationMitochondrial DNATranslation defectsUnrelated familiesProteomic analysisPhosphorylation systemQuantitative proteomicsCellular pathwaysProtein subunitsSubunit proteins