DNA-Mismatch-Reparaturproteine

DNA-Mismatch-Reparaturproteine (auch: DNA-Basenfehlpaarungsreparatur-Proteine, MMR-Proteine) sind Proteine in nahezu allen Lebewesen, die eine Fehlpaarung in DNA-Doppelsträngen erkennen und herausschneiden können. Der Reparaturvorgang wird durch normale, auch in der Replikation benutzte Enzyme abgeschlossen. Die MMR-Proteine werden in zwei Gruppen MutS und MutL eingeteilt, die jeweils für Erkennung und Inzision der falschen Base verantwortlich sind. Die folgende Exzision wird von einer speziellen Exonuklease bewerkstelligt. Die Prozesse sind allgemein ein Teil der DNA-Reparatur.[1][2]

Beim Menschen sind fünf MutS-Homologe und drei MutL-Homologe bekannt. Heterozygote Mutationen in den codierenden Genen sind die Ursache für erbliche Darmkrebs-Anfälligkeit (Hereditäres non-polypöses kolorektales Karzinom, HNPCC). Biallele Mutationen führen zum bereits im Kindesalter auftretendem Mismatch-Reparatur-Defizienz-Syndrom.[3]

Protein Gen
(HGNC)		 UniProt Länge
(AA)		 Bemerkungen
Msh2 MSH2 P43246 934 HNPCC1, HNPCC8, Muir-Torre-Syndrom, Anfälligkeit für Endometriumkarzinom
Msh3 MSH3 P20585 1137 Anfälligkeit für Endometriumkarzinom
Msh4 MSH4 O15457 936 Spezifische Funktion bei Meiose in Eierstöcken und Hoden
Msh5 MSH5 O43196 834 Spezifische Funktion bei Meiose
Msh6 MSH6 P52701 1360 HNPCC5, Anfälligkeit für Endometriumkarzinom
Mlh1 MLH1 P40692 756 HNPCC2, Turcot-Syndrom, Muir-Torre-Syndrom, Anfälligkeit für Endometriumkarzinom
Mlh3 MLH3 Q9UHC1 1453 HNPCC7
PMS2 PMS2 P54278 862 HNPCC4, Turcot-Syndrom

Einzelnachweise

  1. ↑ K. Fukui: DNA mismatch repair in eukaryotes and bacteria. In: Journal of nucleic acids Band 2010, 2010, S. , ISSN 2090-021X. doi:10.4061/2010/260512. PMID 20725617. PMC 291566 (freier Volltext).
  2. ↑ InterPro: IPR002099 DNA mismatch repair protein (englisch)
  3. ↑ D. Ingham, C. P. Diggle, I. Berry, C. A. Bristow, B. E. Hayward, N. Rahman, A. F. Markham, E. G. Sheridan, D. T. Bonthron, I. M. Carr: Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. In: Human Mutation. Band 34, Nummer 6, Juni 2013, S. 847–852, doi:10.1002/humu.22311, PMID 23483711.

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