Human Gene Set: KEGG_MISMATCH_REPAIR


Standard name KEGG_MISMATCH_REPAIR
Systematic name M13515
Brief description Mismatch repair
Full description or abstract DNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preventing mutations from becoming permanent in dividing cells. MMR also suppresses homologous recombination and was recently shown to play a role in DNA damage signaling. Defects in MMR are associated with genome-wide instability, predisposition to certain types of cancer including HNPCC, resistance to certain chemotherapeutic agents, and abnormalities in meiosis and sterility in mammalian systems. The Escherichia coli MMR pathway has been extensively studied and is well characterized. In E. coli, the mismatch-activated MutS-MutL-ATP complex licenses MutH to incise the nearest unmethylated GATC sequence. UvrD and an exonuclease generate a gap. This gap is filled by pol III and DNA ligase. The GATC sites are then methylated by Dam. Several human MMR proteins have been identified based on their homology to E. coli MMR proteins. These include human homologs of MutS and MutL. Although E. coli MutS and MutL proteins are homodimers, human MutS and MutL homologs are heterodimers. The role of hemimethylated dGATC sites as a signal for strand discrimination is not conserved from E. coli to human. Human MMR is presumed to be nick-directed in vivo, and is thought to discriminate daughter and template strands using a strand-specific nick.
Collection C2: Curated
      CP: Canonical Pathways
            CP:KEGG_LEGACY: KEGG Legacy Pathways
Source publication  
Exact source hsa03430
Related gene sets  
External links http://www.genome.jp/pathway/hsa03430
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Source species Homo sapiens
Contributed by KEGG (Kyoto Encyclopedia of Genes and Genomes)
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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The content of the gene sets in the KEGG_LEGACY collection has not been updated since KEGG restricted their usage terms in 2011. More recent sets are available in the KEGG_MEDICUS collection, derived from KEGG's openly available MEDICUS subset.


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