Ask about this productRelated genes to: MLH3 antibody
- Gene:
- MLH3 NIH gene
- Name:
- mutL homolog 3
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 14q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-01-07
- Date modifiied:
- 2019-04-23
Related products to: MLH3 antibody
Related articles to: MLH3 antibody
- TCGA molecular classification has prognostic value in endometrial cancer, but its application in epithelial ovarian cancer is not clear. - Source: PubMed
Publication date: 2026/05/01
Chen Yi-TingLin Po-HanTai Yi-JouHsu Heng-ChengKuo Kuan-TingChiang Ying-Cheng - MutS and MutL proteins and their eukaryotic homologs have important functions in DNA metabolism. MutLβ (MLH1-PMS1 heterodimer) is a poorly understood eukaryotic MutL complex. Recent genetic studies have implicated MutLβ in the process of expansion of the short, tandem DNA repeat tracts that is responsible for the repeat expansion diseases. The function of MutLβ and the mechanism of MutLβ-dependent DNA expansions have not been established. We show here that MutLβ promotes MutSβ- and MutLγ-dependent DNA expansions in human cell extracts and defined systems. Importantly, DNA expansions that occur in human cell extracts in the presence of MutSβ and a low concentration of MutLγ require MutLβ. A MutSβ variant lacking the PCNA-binding motif is proficient in supporting MutLβ-promoted and MutLγ-dependent DNA expansions. We also show that MutLβ enhances the MutSβ-dependent endonuclease activity of MutLγ that incises the loop-lacking strand of loop-containing DNAs. MutLβ also increases the endonuclease activity of MutLγ in the presence of ATP-Mn and physically interacts with MutLγ, MutSβ, and PCNA. In addition, MutLβ suppresses inhibition of DNA expansion by MutSα. An MLH1-F80V substitution in MutLβ causes a defect in the ability of the protein to promote MutSβ- and MutLγ-dependent DNA expansions. Taken together, our findings support a model in which MutLβ is involved in DNA expansions by acting in a MutSβ- and MutLγ-dependent mechanism that includes incision of loop-containing DNAs in the loop-lacking strand. - Source: PubMed
Publication date: 2026/04/22
Kadyrova Lyudmila YKadyrov Farid FHayward BruceUsdin KarenKadyrov Farid A - Unexplained recurrent pregnancy loss (URPL) represents a prevalent obstetric complication and remains a challenging condition with poorly understood genetic etiology. Through whole-exome sequencing of 94 URPL patients, we identified enriched MLH3 gene mutations in five individuals (p.G1302Efs21/p.G752E, p.V741F/p.S845G, p.V1220M/p.L1339F, p.T942I/p.G1163D, p.I988M/p.A1426V), with a 5.32% mutation frequency in this cohort which significantly exceeded the general population prevalence (0-0.011%), suggesting MLH3's potential pathogenicity in URPL. Functional characterization using a Trim-Away-mediated Mlh3 depletion model in mouse germinal vesicle (GV)-stage oocytes revealed that Mlh3 loss disrupts spindle assembly, mislocalizes the spindle assembly checkpoint kinase BubR1, and induces focal chromosomal imbalances in early embryos. These defects lead to impaired blastocyst development and a high rate (63.89%) of post-implantation pregnancy loss after embryo transfer, recapitulating human URPL in vivo. Concurrently, MLH3 knockdown in human endometrial stromal cells impaired decidualization, disrupted morphological transformation, and altered proliferation-apoptosis homeostasis, indicating defective endometrial receptivity. Together, these findings establish maternal MLH3 as a dual-function gene essential for both oocyte quality and endometrial receptivity, providing a novel mechanistic basis for its role in URPL pathogenesis. - Source: PubMed
Publication date: 2026/04/18
Wu YaoqiuLiang TingLiu YajingZhu LiqiongMo HanjieChen XiranHuang XuezheLi HuiZhu MenglanZhang QingxueChen HuiCao Chunwei - This editorial highlights the emerging significance of non-exonuclease domain mutations (non-EDMs) in DNA polymerase epsilon (POLE) in colorectal cancer (CRC), inspired by the recent study by Taskiran . Their study revealed an exceptionally high frequency of POLE mutations (53.65%) in a Turkish CRC cohort, primarily attributed to a specific frameshift variant (p.V1446fs3) with undetermined pathogenic significance. Notably, the non-EDMs showed significant co-occurrence with mutations in critical genes, such as , , , , and , implying a potential synergistic interaction between impaired DNA repair mechanisms and activation of oncogenic pathways. Although POLE-mutant tumors rarely display high microsatellite instability, their hypermutator phenotype may make them more responsive to immunotherapy. This commentary underscores the need for functional assays and validation through multi-center studies to establish the pathogenicity and clinical relevance of non-EDMs. Furthermore, it advocates for the incorporation of comprehensive POLE sequencing, including non-EDM regions, into standard molecular subtyping frameworks for CRC to refine personalized treatment strategies. - Source: PubMed
Xu Jia-JuNi Chun-XiaoXu Jia-Ju - Meiosis assures formation of both male and female gametes. However, cytological studies of female meiotic chromosome behavior in plants are scarce, mainly due to the comparatively low number and inaccessibility of female meiotic cells. We present Female Meiotic cell IDentification (FeM-ID), an approach for cytological identification of female meiotic cells in Arabidopsis. By employing ASY1-eYFP-TurboID, female meiotic cells (chromatin and cytoplasm) are specifically labeled by biotin. This facilitates their rapid microscopic identification and detailed assessment of female meiotic chromosome behavior. ASY1-eYFP-TurboID can be transformed or introgressed into different genetic backgrounds without any adverse effects on meiosis in either sex. Our approach enabled us to analyze female meiotic chromosome behavior, including bivalent and univalent frequencies, minimum chiasma numbers and chromosome segregation, in various ecotypes (Col-0, Ler-0, and Ws-2), colchicine-induced tetraploids (Col-4x) and selected meiotic mutants (sporulation 11-1 (spo11-1), meiotic recombination 11 (mre11), and mutL homolog 3 (mlh3), facilitating cytological studies of heterochiasmy (sex-specific differences in recombination rates or patterns). FeM-ID is compatible with other cytological techniques, such as immunolocalization and fluorescence in situ hybridization, which allowed us, for instance, to assess homologous chromosome pairing or to track individual chromosomes in female meiotic cells. In conclusion, FeM-ID represents an approach that fills a long-standing gap in the dissection of female meiotic chromosome behavior in Arabidopsis and holds the potential for application in other plant species. - Source: PubMed
Feng ChaoWang BaicuiCuacos MariaLorenz JanaHartmann FranziskaHeckmann Stefan