DNA mismatch repair proteins
DNA mismatch repair proteins (also: DNA base mismatch repair proteins , MMR proteins ) are proteins in almost all living things that can recognize and cut out a mismatch in DNA double strands. The repair operation is normal, even in the replication used enzymes complete. The MMR proteins are divided into two groups, MutS and MutL, which are each responsible for recognizing and incising the wrong base. The following excision is done by a special exonuclease. The processes are generally part of DNA repair .
Five MutS homologues and three MutL homologues are known in humans. Mutations in the coding genes are, among other things, the cause of hereditary colon cancer susceptibility ( hereditary non-polyposis colorectal cancer , HNPCC).
| protein | Gene (HGNC) |
UniProt | Length (AA) |
Remarks |
|---|---|---|---|---|
| Msh2 | MSH2 | P43246 | 934 | HNPCC1, HNPCC8, Muir-Torre syndrome , susceptibility to endometrial cancer |
| Msh3 | MSH3 | P20585 | 1137 | Susceptibility to endometrial cancer |
| Msh4 | MSH4 | O15457 | 936 | Specific function in meiosis in the ovaries and testes |
| Msh5 | MSH5 | O43196 | 834 | Specific function in meiosis |
| Msh6 | MSH6 | P52701 | 1360 | HNPCC5, susceptibility to endometrial cancer |
| Mlh1 | MLH1 | P40692 | 756 | HNPCC2, Turcot syndrome , Muir-Torre syndrome , susceptibility to endometrial cancer |
| Mlh3 | MLH3 | Q9UHC1 | 1453 | HNPCC7 |
| PMS2 | PMS2 | P54278 | 862 | HNPCC4, Turcot Syndrome |
Individual evidence
- ↑ K. Fukui: DNA mismatch repair in eukaryotes and bacteria. In: Journal of nucleic acids Volume 2010, 2010, S., ISSN 2090-021X . doi : 10.4061 / 2010/260512 . PMID 20725617 . PMC 291566 (free full text).
- ↑ InterPro : IPR002099 DNA mismatch repair protein (English)