title: Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association.
abstract: Despite the mitochondria ubiquitous nature many of their components display divergences in their expression profile across different tissues. Using the bioinformatics-approach of guilt by association (GBA) we exploited these variations to predict the function of two so far poorly annotated genes: Coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10) and glioblastoma amplified sequence (GBAS). We predicted both genes to be involved in oxidative phosphorylation. Through in vitro experiments using gene-knockdown we could indeed confirm this and furthermore we asserted CHCHD10 to play a role in complex IV activity.
authors.affiliation: Department of Clinical Genomics, Maastricht University, Universiteitssingel 50, P.O. Box 616, 6200 MD, Maastricht, The Netherlands. ruben.martherus@maastrichtuniversity.nl
authors.forename: Ruben S R M
authors.initials: RS
authors.lastname: Martherus
authors.forename: Willem
authors.initials: W
authors.lastname: Sluiter
authors.forename: Erika D J
authors.initials: ED
authors.lastname: Timmer
authors.forename: Sabina J V
authors.initials: SJ
authors.lastname: VanHerle
authors.forename: Hubert J M
authors.initials: HJ
authors.lastname: Smeets
authors.forename: Torik A Y
authors.initials: TA
authors.lastname: Ayoubi
mesh_terms: D000255:Adenosine Triphosphate / Q000096:biosynthesis*; D019295:Computational Biology / Q000379:methods; D003576:Electron Transport Complex IV / Q000378:metabolism*; D055785:Gene Knockdown Techniques; D050259:Genes, Mitochondrial / Q000502:physiology*; D006367:HeLa Cells; D006321:Heart / Q000502:physiology*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins / Q000235:genetics / Q000502:physiology*; D024101:Mitochondrial Proteins / Q000235:genetics / Q000502:physiology*; D010085:Oxidative Phosphorylation; D010750:Phosphoproteins / Q000235:genetics / Q000502:physiology*
chemical_list: C554426:CHCHD10 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C113390:NIPSNAP2 protein, human; D010750:Phosphoproteins; D000255:Adenosine Triphosphate; D003576:Electron Transport Complex IV