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Steinmetz LM, et al.  (2002) Systematic screen for human disease genes in yeast. Nat Genet 31(4):400-4

Abstract: High similarity between yeast and human mitochondria allows functional genomic study of Saccharomyces cerevisiae to be used to identify human genes involved in disease. So far, 102 heritable disorders have been attributed to defects in a quarter of the known nuclear-encoded mitochondrial proteins in humans. Many mitochondrial diseases remain unexplained, however, in part because only 40-60% of the presumed 700-1,000 proteins involved in mitochondrial function and biogenesis have been identified. Here we apply a systematic functional screen using the pre-existing whole-genome pool of yeast deletion mutants to identify mitochondrial proteins. Three million measurements of strain fitness identified 466 genes whose deletions impaired mitochondrial respiration, of which 265 were new. Our approach gave higher selection than other systematic approaches, including fivefold greater selection than gene expression analysis. To apply these advantages to human disorders involving mitochondria, human orthologs were identified and linked to heritable diseases using genomic map positions.

Status: Published Type: Journal Article PubMed ID: 12134146

Topics addressed in this paper

Number of different genes curated to this paper: 60

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Topics Topics not linked to Genes Genes linked to topics (#1 - 10 )
ACO1 ACS1 ADH1 AIM22 ALD6 BCS1 CCC2 CCM1 CIT1 CMC1
Additional Literature blue ball blue ball blue ball blue ball blue ball blue ball blue ball
Disease Gene Related blue ball blue ball
Large-scale phenotype analysis yg ball
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Omics yg ball
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Topics Genes linked to topics (#11 - 20 )
COA1 COA4 COX10 FBP1 FUM1 GCV3 GGC1 GTF1 GUT1 GUT2
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Cellular Location blue ball
Disease Gene Related blue ball blue ball blue ball blue ball
Mutants/Phenotypes blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball
Primary Literature blue ball blue ball blue ball
Protein Processing/Modification/Regulation blue ball
Strains/Constructs blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball

Topics Genes linked to topics (#21 - 30 )
HEM14 HXK2 IDH2 KGD1 KGD2 LAT1 LPD1 LSC1 LSC2 MDH1
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Disease Gene Related blue ball blue ball blue ball blue ball
Mutants/Phenotypes blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball
Strains/Constructs blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball
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Topics Genes linked to topics (#31 - 40 )
MHR1 MIP1 MIS1 MLS1 PCK1 PCP1 PDA1 PDB1 PDX1 PET8
Additional Literature blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball
Cellular Location blue ball blue ball
Disease Gene Related blue ball blue ball blue ball blue ball blue ball
Mutants/Phenotypes blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball
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Topics Genes linked to topics (#41 - 50 )
PFK1 PFK2 PPT2 PYC1 RGL1 RHR2 RMR1 RSM18 SCO1 SDH1
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Cellular Location blue ball blue ball
Disease Gene Related blue ball blue ball
Mutants/Phenotypes blue ball blue ball blue ball blue ball blue ball blue ball blue ball blue ball
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Topics Genes linked to topics (#51 - 60 )
SDH2 SDH4 SHY1 TDH3 TPI1 UPS2 YIR024C YJL193W YJR079W YTA12
Additional Literature blue ball blue ball blue ball blue ball blue ball blue ball
Disease Gene Related blue ball blue ball blue ball
Mutants/Phenotypes blue ball blue ball blue ball blue ball blue ball blue ball blue ball
Primary Literature blue ball blue ball blue ball blue ball
Strains/Constructs blue ball blue ball blue ball blue ball blue ball blue ball blue ball
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