Human Gene Set: MOOTHA_HUMAN_MITODB_6_2002

Standard name MOOTHA_HUMAN_MITODB_6_2002
Systematic name M9433
Brief description Mitochondrial genes; based on literature and sequence annotation resources and converted to Affymetrix HG-U133A probe sets.
Full description or abstract DNA microarrays can be used to identify gene expression changes characteristic of human disease. This is challenging, however, when relevant differences are subtle at the level of individual genes. We introduce an analytical strategy, Gene Set Enrichment Analysis, designed to detect modest but coordinate changes in the expression of groups of functionally related genes. Using this approach, we identify a set of genes involved in oxidative phosphorylation whose expression is coordinately decreased in human diabetic muscle. Expression of these genes is high at sites of insulin-mediated glucose disposal, activated by PGC-1alpha and correlated with total-body aerobic capacity. Our results associate this gene set with clinically important variation in human metabolism and illustrate the value of pathway relationships in the analysis of genomic profiling experiments.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 12808457   Authors: Mootha VK,Lindgren CM,Eriksson KF,Subramanian A,Sihag S,Lehar J,Puigserver P,Carlsson E,Ridderstråle M,Laurila E,Houstis N,Daly MJ,Patterson N,Mesirov JP,Golub TR,Tamayo P,Spiegelman B,Lander ES,Hirschhorn JN,Altshuler D,Groop LC
Exact source Suppl. file: all_pathways/human_mitoDB_6_2002_HG-U133A_probes
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Source species Homo sapiens
Contributed by Vamsi Mootha (Broad Institute)
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Version history 3.0: Renamed from HUMAN_MITODB_6_2002

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