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MutL homolog 3

MLH3
This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: MLH1, MSH6, MSH2, PMS2, PMS1
Papers on MLH3
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.
New
Grody et al., Toronto, Canada. In Genes Chromosomes Cancer, Feb 2016
Clinical exome sequencing (CES), requested for tumor syndrome diagnosis, revealed two heterozygous missense variants, c.359T>C;p.Phe120Ser and c.3344G>A;p.Arg1115Gln, in MLH3 (NM_001040108.1), a DNA mismatch repair (MMR) gene, Polyphen-predicted as probably damaging, and benign, respectively.
Disease-associated repeat instability and mismatch repair.
Review
New
Pearson et al., Toronto, Canada. In Dna Repair (amst), Jan 2016
Recent advances have broadened our knowledge of both the MMR proteins involved in disease repeat expansions, including: MSH2, MSH3, MSH6, MLH1, PMS2, and MLH3, as well as the types of repeats affected by MMR, now including: (CAG)·(CTG), (CGG)·(CCG), and (GAA)·(TTC) repeats.
Single-nucleotide polymorphism rs 175080 in the MLH3 gene and its relation to male infertility.
New
Messinis et al., Lárisa, Greece. In J Assist Reprod Genet, Dec 2015
PURPOSE: MLH3, a MutL homolog protein in mammals playing a role in DNA mismatch repair, is associated with spermatogenesis and male infertility.
Genetic and epigenetic characterization of low-grade gliomas reveals frequent methylation of the MLH3 gene.
New
Michalova et al., Praha, Czech Republic. In Genes Chromosomes Cancer, Nov 2015
MutL homolog 3 (MLH3) promoter methylation was observed in 61% of LGO and 27% of LGA.
Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family.
New
Miryounesi et al., Tehrān, Iran. In Gene, Nov 2015
This mutation is located in a region coding for the functional domain for the interaction with MLH3/PMS1/PMS2.
Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
New
Goetz et al., Rochester, United States. In Breast Cancer Res Treat, Sep 2015
Twenty-eight deleterious variants were identified in 26/124 (21.0%) patients in the following genes: ATM (n = 3), BLM (n = 1), BRCA1 (n = 4), BRCA2 (n = 8), CHEK2 (n = 2), FANCA (n = 1), FANCI (n = 1), FANCL (n = 1), FANCM (n = 1), FH (n = 1), MLH3 (n = 1), MUTYH (n = 2), PALB2 (n = 1), and WRN (n = 1).
Advances in the study of Lynch syndrome in China.
Review
New
Sheng et al., Beijing, China. In World J Gastroenterol, Jul 2015
In addition to frequently altered MMR genes, such as MLH1, MSH2, MSH6, and MLH3, other MMR-associated genes, such as those encoding human exonuclease 1, transforming growth factor β receptor 2, and alanine aminopeptidase, metastasis-associated protein 2, adenomatosis polyposis coli down-regulated 1, and hepatic and glial cell adhesion molecule have also been implicated in Chinese Lynch syndrome.
DNA mismatch repair enzymes: genetic defects and autoimmunity.
Review
New
Akiyama et al., Nagoya, Japan. In Clin Chim Acta, Apr 2015
The human MutS enzymes consist of MSH2, MSH3 and MSH6, and the human MutL enzymes include MLH1, MLH3, PMS1 and PMS2.
Mismatch repair deficiency in ovarian cancer -- molecular characteristics and clinical implications.
Review
Gourley et al., Edinburgh, United Kingdom. In Gynecol Oncol, 2014
The incidence of germline MMR gene mutations in ovarian cancer is only 2% but other mechanisms of gene inactivation mean that loss of expression of one of the seven main genes (MSH2, MSH3, MSH6, MLH1, MLH3, PMS1 and PMS2) occurs in up to 29% of cases.
Mixed exocrine-neuroendocrine carcinoma of the nasal cavity: clinico-pathologic and molecular study of a case and review of the literature.
Review
Capella et al., Varese, Italy. In Head Neck Pathol, 2013
Gains and losses were found at following chromosome regions: 17p13 (TP53), 14q24 (MLH3), 19q13 (KLK3), 5q21 (APC), 7q21 (CDK6), 9q34 (DAPK1), 12p13 (TNFRSF 1A, CDKN1B), 13q12 (BRCA2), 17p13.3
MutLalpha and proliferating cell nuclear antigen share binding sites on MutSbeta.
GeneRIF
Modrich et al., Durham, United States. In J Biol Chem, 2010
the MutSbeta-MutLalpha interaction is mediated in part by residues ((L/I)SRFF) embedded within the MSH3 PCNA-binding motif
The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia.
GeneRIF
Xiang et al., Changsha, China. In Clin Chim Acta, 2010
There is an association of polymorphism C85T in MSH5 or C2531T in MLH3 with male infertility, specifically azoospermia or severe oligozoospermia, and interaction between these MSH5 and MLH3 polymorphisms increased the risk of developing male infertility
Evidence that hMLH3 functions primarily in meiosis and in hMSH2-hMSH3 mismatch repair.
GeneRIF
Fishel et al., Columbus, United States. In Cancer Biol Ther, 2009
hMLH3 mRNA is present at low levels in numerous tissues but high levels in testis. hMLH3 functions in meiosis as well as hMSH2-hMSH3 repair processes & has little if any role in Hereditary Non-Polyposis Colorectal Cancer (HNPCC).
Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome.
GeneRIF
Hofstra et al., Groningen, Netherlands. In Genes Chromosomes Cancer, 2009
the different biochemical assays yielded no evidence that the eight MLH3 unclassified variants (missense mutations) tested are the cause of hereditary colorectal cancer, including Lynch syndrome
MUS81 generates a subset of MLH1-MLH3-independent crossovers in mammalian meiosis.
GeneRIF
Cohen et al., Ithaca, United States. In Plos Genet, 2007
MLH3-independent crossovers in mammalian meiosis,in Mus81-nullizygous mice.
BLM ortholog, Sgs1, prevents aberrant crossing-over by suppressing formation of multichromatid joint molecules.
Impact
Hunter et al., Davis, United States. In Cell, 2007
Sgs1 and procrossover factors, Msh5 and Mlh3, are antagonistic since Sgs1 prevents dHJ formation in msh5 cells and sgs1 mutation alleviates crossover defects of both msh5 and mlh3 mutants.
Meiotic arrest and aneuploidy in MLH3-deficient mice.
Impact
GeneRIF
Cohen et al., Irvine, United States. In Nat Genet, 2002
Mlh3 is required for Mlh1 binding to meiotic chromosomes and localizes to chromosomes from the mid pachynema stage of prophase. Mlh3(-/-) spermatocytes reach metaphase before succumbing to apoptosis, oocytes fail to complete meiosis I after fertilization.
A role for MLH3 in hereditary nonpolyposis colorectal cancer.
Impact
Hofstra et al., Groningen, Netherlands. In Nat Genet, 2001
We investigated a possible role of the mismatch-repair gene MLH3 in hereditary nonpolyposis colorectal cancer by scanning for mutations in 39 HNPCC families and in 288 patients suspected of having HNPCC.
Mediating mismatch repair.
Impact
Jiricny, In Nat Genet, 2000
The DNA repair picture in humans becomes more complete with the identification of MLH3, a homologue of MutL and a heterodimeric partner of MLH1.
MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability.
Impact
Collins et al., Bethesda, United States. In Nat Genet, 2000
Here we describe the cloning and complete genomic sequence of MLH3, which encodes a new DNA mismatch repair protein that interacts with MLH1.
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