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Gene Ontology Classifications
mutL homolog 1 (E. coli)

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Mlh1. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of September 12, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Baker SM et al. (1996) Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over [see comments] Nat Genet, 13:336-42. (PubMed:8673133)
  2. Bannister LA et al. (2004) Modulation of error-prone double-strand break repair in mammalian chromosomes by DNA mismatch repair protein Mlh1. DNA Repair (Amst), 3:465-74. (PubMed:15084308)
  3. Bardwell PD et al. (2004) Altered somatic hypermutation and reduced class-switch recombination in exonuclease 1-mutant mice. Nat Immunol, 5:224-9. (PubMed:14716311)
  4. Baross-Francis A et al. (2001) Elevated mutant frequencies and increased C : G-->T : A transitions in Mlh1-/- versus Pms2-/- murine small intestinal epithelial cells. Oncogene, 20:619-25. (PubMed:11313994)
  5. Blake C et al. (2001) Stepwise deletions of polyA sequences in mismatch repair-deficient colorectal cancers. Am J Pathol, 158:1867-70. (PubMed:11337385)
  6. Celeste A et al. (2002) Genomic instability in mice lacking histone H2AX. Science, 296:922-7. (PubMed:11934988)
  7. Chen PC et al. (2005) Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse. Cancer Res, 65:8662-70. (PubMed:16204034)
  8. Cherry SM et al. (2007) The Mre11 complex influences DNA repair, synapsis, and crossing over in murine meiosis. Curr Biol, 17:373-8. (PubMed:17291760)
  9. Eaker S et al. (2002) Meiotic Prophase Abnormalities and Metaphase Cell Death in MLH1-Deficient Mouse Spermatocytes: Insights into Regulation of Spermatogenic Progress. Dev Biol, 249:85. (PubMed:12217320)
  10. Edelmann W et al. (1996) Meiotic pachytene arrest in MLH1-deficient mice. Cell, 85:1125-34. (PubMed:8674118)
  11. Edelmann W et al. (1999) Tumorigenesis in Mlh1 and Mlh1/Apc1638N mutant mice. Cancer Res, 59:1301-7. (PubMed:10096563)
  12. Guillon H et al. (2005) Crossover and noncrossover pathways in mouse meiosis. Mol Cell, 20:563-73. (PubMed:16307920)
  13. Guiraldelli MF et al. (2013) Mouse HFM1/Mer3 Is Required for Crossover Formation and Complete Synapsis of Homologous Chromosomes during Meiosis. PLoS Genet, 9:e1003383. (PubMed:23555294)
  14. Hegan DC et al. (2006) Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6. Carcinogenesis, 27:2402-8. (PubMed:16728433)
  15. Herran Y et al. (2011) The cohesin subunit RAD21L functions in meiotic synapsis and exhibits sexual dimorphism in fertility. EMBO J, 30:3091-105. (PubMed:21743440)
  16. Holloway JK et al. (2014) Mammalian CNTD1 is critical for meiotic crossover maturation and deselection of excess precrossover sites. J Cell Biol, 205:633-41. (PubMed:24891606)
  17. Kawate H et al. (1998) Separation of killing and tumorigenic effects of an alkylating agent in mice defective in two of the DNA repair genes. Proc Natl Acad Sci U S A, 95:5116-20. (PubMed:9560238)
  18. Kawate H et al. (2000) A defect in a single allele of the Mlh1 gene causes dissociation of the killing and tumorigenic actions of an alkylating carcinogen in methyltransferase-deficient mice. Carcinogenesis, 21:301-5. (PubMed:10657972)
  19. Kim J et al. (2014) Meikin is a conserved regulator of meiosis-I-specific kinetochore function. Nature, null:null. (PubMed:25533956)
  20. Kim N et al. (1999) Different mismatch repair deficiencies all have the same effects on somatic hypermutation: intact primary mechanism accompanied by secondary modifications. J Exp Med, 190:21-30. (PubMed:10429667)
  21. Kolas NK et al. (2005) Localization of MMR proteins on meiotic chromosomes in mice indicates distinct functions during prophase I. J Cell Biol, 171:447-58. (PubMed:16260499)
  22. Kolas NK et al. (2004) Novel and diverse functions of the DNA mismatch repair family in mammalian meiosis and recombination. Cytogenet Genome Res, 107:216-31. (PubMed:15467367)
  23. Kouznetsova A et al. (2011) Meiosis in mice without a synaptonemal complex. PLoS One, 6:e28255. (PubMed:22164254)
  24. Li X et al. (2007) Mouse Pachytene Checkpoint 2 (Trip13) Is Required for Completing Meiotic Recombination but Not Synapsis. PLoS Genet, 3:e130. (PubMed:17696610)
  25. Lipkin SM et al. (2002) Meiotic arrest and aneuploidy in MLH3-deficient mice. Nat Genet, 31:385-90. (PubMed:12091911)
  26. Oda S et al. (2000) Efficient repair of A/C mismatches in mouse cells deficient in long-patch mismatch repair. EMBO J, 19:1711-8. (PubMed:10747038)
  27. Phung QH et al. (1999) Hypermutation in Ig V genes from mice deficient in the MLH1 mismatch repair protein. J Immunol, 162:3121-4. (PubMed:10092760)
  28. Prolla TA et al. (1998) Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. Nat Genet, 18:276-9. (PubMed:9500552)
  29. Sansom OJ et al. (2003) MBD4 deficiency reduces the apoptotic response to DNA-damaging agents in the murine small intestine. Oncogene, 22:7130-6. (PubMed:14562041)
  30. Schrader CE et al. (2002) Role for mismatch repair proteins Msh2, Mlh1, and Pms2 in immunoglobulin class switching shown by sequence analysis of recombination junctions. J Exp Med, 195:367-73. (PubMed:11828012)
  31. Schrader CE et al. (2003) Mlh1 can function in antibody class switch recombination independently of Msh2. J Exp Med, 197:1377-83. (PubMed:12743174)
  32. Shao C et al. (2004) Mlh1 mediates tissue-specific regulation of mitotic recombination. Oncogene, 23:9017-24. (PubMed:15480418)
  33. Shoemaker AR et al. (2000) Mlh1 deficiency enhances several phenotypes of Apc(Min)/+ mice. Oncogene, 19:2774-9. (PubMed:10851078)
  34. Takagi Y et al. (2003) Roles of MGMT and MLH1 proteins in alkylation-induced apoptosis and mutagenesis. DNA Repair (Amst), 2:1135-46. (PubMed:13679151)
  35. Wong JC et al. (2003) Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. Hum Mol Genet, 12:2063-76. (PubMed:12913077)
  36. Woods LM et al. (1999) Chromosomal influence on meiotic spindle assembly: abnormal meiosis I in female Mlh1 mutant mice. J Cell Biol, 145:1395-406. (PubMed:10385520)
  37. Yang F et al. (2008) Meiotic failure in male mice lacking an X-linked factor. Genes Dev, 22:682-91. (PubMed:18316482)
  38. Yao X et al. (1999) Different mutator phenotypes in Mlh1- versus Pms2-deficient mice. Proc Natl Acad Sci U S A, 96:6850-5. (PubMed:10359802)
  39. Yoshioka K et al. (2006) ATR kinase activation mediated by MutSalpha and MutLalpha in response to cytotoxic O6-methylguanine adducts. Mol Cell, 22:501-10. (PubMed:16713580)
  40. Zechmeister-Machhart M et al. (1996) Molecular cloning and tissue distribution of mouse protein C inhibitor (PCI). Immunopharmacology, 32:96-8. (PubMed:8796278)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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