{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Benegiamo G"],"funding":["Swiss National Science Foundation","European Research Council"],"pagination":["1336-1351"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9584823"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["4(10)"],"pubmed_abstract":["Mitochondrial respiratory complexes form superassembled structures called supercomplexes. COX7A2L is a supercomplex-specific assembly factor in mammals, although its implication for supercomplex formation and cellular metabolism remains controversial. Here we identify a role for COX7A2L for mitochondrial supercomplex formation in humans. By using human cis-expression quantitative trait loci data, we highlight genetic variants in the COX7A2L gene that affect its skeletal muscle expression specifically. The most significant cis-expression quantitative trait locus is a 10-bp insertion in the COX7A2L 3' untranslated region that increases messenger RNA stability and expression. Human myotubes harboring this insertion have more supercomplexes and increased respiration. Notably, increased COX7A2L"],"journal":["Nature metabolism"],"pubmed_title":["COX7A2L genetic variants determine cardiorespiratory fitness in mice and human."],"pmcid":["PMC9584823"],"funding_grant_id":["787702","179435"],"pubmed_authors":["Laurila PP","Benegiamo G","Enriquez JA","Cogliati S","Auwerx J","Brumpton BM","Rodriguez-Lopez S","Eriksson JG","Klevjer M","Jha P","Bou Sleiman M","Bye A","Goeminne LJE","Wohlwend M","Lahti J","Salonen MK"],"additional_accession":[]},"is_claimable":false,"name":"COX7A2L genetic variants determine cardiorespiratory fitness in mice and human.","description":"Mitochondrial respiratory complexes form superassembled structures called supercomplexes. COX7A2L is a supercomplex-specific assembly factor in mammals, although its implication for supercomplex formation and cellular metabolism remains controversial. Here we identify a role for COX7A2L for mitochondrial supercomplex formation in humans. By using human cis-expression quantitative trait loci data, we highlight genetic variants in the COX7A2L gene that affect its skeletal muscle expression specifically. The most significant cis-expression quantitative trait locus is a 10-bp insertion in the COX7A2L 3' untranslated region that increases messenger RNA stability and expression. Human myotubes harboring this insertion have more supercomplexes and increased respiration. Notably, increased COX7A2L","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-05-28T01:20:39.282Z","creation":"2025-04-06T12:10:37.52Z"},"accession":"S-EPMC9584823","cross_references":{"pubmed":["36253618"],"doi":["10.1038/s42255-022-00655-0"]}}