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ProteomicsDNA mismatch repair activity of MutLα is regulated by CK2-dependent phosphorylation of MLH1 (S477)
MutLα, a heterodimer consisting of MLH1 and PMS2, is a key player of DNA mismatch repair (MMR), yet little is known about its regulation. In this study, we used mass spectrometry to identify phosphorylated residues within MLH1 and PMS2. The most frequently detected phosphorylated amino acid was seri...
ORGANISM(S): Homo sapiens (Human) 
2018-08-28 | PXD009524 | Pride
Ck2 Phosphorylation Lynch syndrome Dna mismatch repair Mutlα Mlh1 
TranscriptomicsMethylation profiling of human colon cancer specimens with or without methylation of the MLH1 promoter.
Expression profile was obtained for GeneChip probe sets among colon cancer specimens with or without the methylation of MLH1 promoter.
ORGANISM(S): Homo sapiens 
2007-08-29 | E-GEOD-2138 | biostudies-arrayexpress
GenomicsWhole exome sequencing of DNA purified from colorectal tumors induced by 1% DSS and adjacent colon controls in MLH1-KO mice
In the process of searching for tumor-specific mutations to predict neoantigens for cancer immunotherapy in a Lynch Syndrome mouse model, tumorigenesis was induced with 1% DSS in drinking water. DNA was isolated from tumors and colon tissue separately from 4 MLH1-KO mice using the DNeasy Qiagen kit ...
ORGANISM(S): Mus musculus 
2021-10-02 | E-MTAB-10962 | biostudies-arrayexpress
TranscriptomicsThe MLH1 c.-27C>A and c.85G>T variants are borne on a European ancestral haplotype which underlies an autosomal dominant form of MLH1 epimutation.
Lynch syndrome, caused by germline heterozygous mutations of the DNA mismatch repair genes MLH1, MSH2, MSH6 and PMS2, or deletions affecting the EPCAM gene upstream of MSH2, is characterized by a predisposition to early-onset colorectal and additional extracolonic cancers. An alternative but rare ca...
ORGANISM(S): Homo sapiens 
2013-04-01 | E-GEOD-45149 | biostudies-arrayexpress
TranscriptomicsEndometrial hyperplasia and carcinoma
Using mouse models of endometrial tumorigenesis based on two of the most common molecular alterations found in primary human UEC we sought to characterize the transition from CAH to carcinoma to identify clinically useful biomarkers. In order to identify novel candidate genes associated with invasio...
ORGANISM(S): Mus musculus 
2008-11-19 | E-GEOD-10866 | biostudies-arrayexpress
GenomicsWhole-genome resequencing of BC1 populations from Arabidopsis (Col x Ler) x Col crosses (wild type and mlh1)
This experiment aims at analyzing crossover distribution in female and male meiosis, in the Arabidopsis mlh1 compared to wild type. Plants heterozygous for the mlh1-2 mutation (Col-0) were crossed as females with plants heterozygous for the mlh1-3 mutation (Ler). Wild-type and mlh1-2/mlh1-3 plants w...
ORGANISM(S): Arabidopsis thaliana 
2024-09-23 | E-MTAB-14422 | biostudies-arrayexpress
TranscriptomicsDominant MLH1 epimutation linked to 5'UTR variant c.-27C>A
Constitutional epimutations of tumor suppressor genes manifest as promoter methylation and transcriptional silencing of a single allele in normal somatic tissues, thereby predisposing to cancer. Constitutional MLH1 epimutations occur in individuals with young-onset cancer and demonstrate non-Mendeli...
ORGANISM(S): Homo sapiens 
2011-07-01 | E-GEOD-30348 | biostudies-arrayexpress
GenomicsTranscriptional profiling of striatum and cortex from a mouse model of Huntington's disease (Q140) crossed with Mlh1 heterozygous mice [Mlh1]
Transcriptional profiling of striatum and cortex from a mouse model of Huntington's disease (Q140) crossed with Mlh1 heterozygous mice [Mlh1]
PRJNA956252 | ENA
ProteomicsDNA mismatch repair activity of MutLalpha is regulated by CK2-dependent phosphorylation of MLH1
Mass spectrometry based PTM phosphorylation analysis to study regulation mechanism of MUTL alpha, a heterodimer consisting of MLH1 and PMS2 and a key player in DNA mismatch repair (MMR). It could be demonstrated that phosphorylation of MLH1 by Casein Kinase II (CK2) at amino acid position 477 can sw...
ORGANISM(S): Homo sapiens (Human) 
2018-08-29 | PXD009026 | Pride
Hek293t cells Phosphorylation Immunoprecipitation Mutl alpha Lc-ms/ms 
GenomicsPrimary constitutional MLH1 epimutations: a focal epigenetic event [blood data sets]
Primary constitutional MLH1 epimutations: a focal epigenetic event [blood data sets]
PRJNA419994 | ENA
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