Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association.
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.
Martherus
Ruben S R M
RS
Department of Clinical Genomics, Maastricht University, Universiteitssingel 50, P.O. Box 616, 6200 MD, Maastricht, The Netherlands. ruben.martherus@maastrichtuniversity.nl
Sluiter
Willem
W
Timmer
Erika D J
ED
VanHerle
Sabina J V
SJ
Smeets
Hubert J M
HJ
Ayoubi
Torik A Y
TA
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*
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