MLH1

(redirected from mutL)

MLH1

A human homologue of the Escherichia coli DNA mismatch repair gene on 3p21.3, which encodes an enzyme that scans newly replicated DNA for errors and repairs mismatched base pairs.

Molecular pathology
A germline mutation of MLH1 occurs in ± 1% of patients with hereditary nonpolyposis colon cancer; defects in MLH1 also cause mismatch repair cancer syndrome, Muir-Torre syndrome and susceptibility to endometrial cancer.
References in periodicals archive ?
2] Human genes: CFTR, cystic fibrosis transmembrane conductance regulator (ATP binding cassette subfamily C, member 7); BRCA1, breast cancer 1, early onset; MLH1, mutL homolog 1.
Refuting Al-Atheina's statement that PAHW has only 38,000 units at present, he said the Authority has 168,400 units distributed as follows; 52,000 in north Mutl, 22,000 in Mutl outskirts, 52,000 in Sabiya, 35,000 in Khairan and 7,400 in west Abdullah Al-Mubarak area.
126) Although this type of tumor will rarely metastasize to the lung, since immunohistochemical detection of mismatch repair protein with antibodies for mutL homolog-1 (MLH1), mutS homologs 2 and 6 (MSH2, MSH6), and postmeiotic segregation increased 2 (PMS2) gives a predictive value that is virtually equivalent to microsatellite instability testing, this may be worth testing in selected cases as microsatellite instability in primary lung adenocarcinomas is extremely rare.
Standard DNA amplification and sequencing of 7 housekeeping genes (acsA, aroE, guaA, mutL, nuoD, ppsA, and trpE) were performed.
The McMaster researchers uncovered how a specific protein, known as MutL, works within a cell to unleash the series of events that repair DNA when the replication machinery makes a mistake.
Collins gave the example of a mutation in a gene called MutL homolog 1, colon cancer, nonpolyposis type 2 (MLH1) that's known to increase a person's lifetime risk of developing colon cancer from an average of about 6 percent to around 60 percent.
However, a recent analysis by Hoerner and Mutl (2001) has estimated the effects of an integrated domestic no-regrets strategy including tax shifts and market reforms.
MSI tumors may result from inactivating germline mutations in one or more genes, including MutL homolog 1, colon cancer, nonpolyposis type 2 (E.
Gastric cancer cells are often characterized by overexpression of Dnmt1 with hypermethylation of genes relevant to the etiology of gastric cancer, including human MutL homologue 1 (hMLH1), thrombospondin-1 (THBS-1), and E-cadherin (Etoh et al.
tuberculosis, mismatch-repair genes (mutH, mutL, mutS, and recJ) were not found in its genome (6).
4] Human genes: MLH1, mutL homolog 1; MSH2, mutS homolog 2; MSH6, mutS homolog 6; PMS2, postmeiotic segregation increased 2 (S.
Ninety percent of LS cases are related to autosomal-dominant inheritance of a mutation in 1 of 2 major MMR genes: mutL homolog 1 (MLH1) and mutS homolog 2 (MSH2).