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Pedigree Study and Functional Analysis of Novel Germline p. R21Afs MEN1 Mutation in a Multiple Endocrine Neoplasia Type 1 Family

ABSTRACT: We found a novel MEN1 p. R21Afs mutaion in a multiple endocrine neoplasia type 1 family. To investigate the pathogenic function of p.R21Afs MEN1 mutation, the leukocyte transcriptoma profilings derived from MEN1 patients with heterozygote p.R21Afs MEN1 mutation was compared with the unaffected relatives without p.R21Afs MEN1 mutation.

ORGANISM(S): Homo sapiens

PROVIDER: GSE221993 | GEO | 2023/02/01

REPOSITORIES: GEO

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Differential pancreatic islet global gene expression in young heterozygous Men1 mice and wildtype littermates

Project description:Multiple Endocrine Neoplasia Tumor Syndrome type 1 (MEN 1) is an autosomal dominant tumor syndrome affecting individuals with a heterozygous germline mutaion of the MEN1 gene. MEN 1 carriers commonly develop parathyroid, anterior pituitary, duodenal and pancreatic endocrine tumors. The phenotype of existing mouse models for the MEN 1 syndrome, with a germline heterozygous (hz) Men1 gene inactivation, show close resemblance to the human MEN 1 syndrome. Menin, the protein encoded for by the MEN1/Men1 gene, lacks homology with known proteins, and evidence of its involvement in different cellular processes is steadily growing. Several interaction partners have been identified, involving different interaction sites on the menin protein. Accumulating evidence suggests a role for menin in transcriptional regulation, cell cycle control, apoptosis, chromatin modification and DNA damage response and repair. Loss of heterozygosity (LOH) of the MEN1 gene precedes tumor formation in the MEN 1 heterozygous pancreas. We set out to determine if there is a change in gene expression early on in the hz islet, as compared with islets in wildtype (wt) littermates, long before the LOH events occur. We performed a global mRNA expression microarray on islets from young, five-week-old, hz Men1 mice and their wt littermates, and we have subsequently corroborated a subset of the findings on the qPCR and protein level. Islets were isolated and RNA prepared from five five-week-old female mice heterozygous for the Men1 gene and five female wildtype littermates, and then a global gene expression microarray was performed.

2011-06-02 | E-GEOD-29674 | biostudies-arrayexpress

Expression data from Men1 knockout MEFs

Project description:Multiple endocrine neoplasia type1 (MEN1), an inherited autosomal dominant syndrome characterized by the development of endocrine tumors including NETs, results from mutation in the MEN1 gene that encodes the protein menin. In mouse models, heterozygous loss of Men1 leads to multiple endocrine tumors with loss of heterozygocity at the Men1 locus. Men1 interacts with several partners to regulate cellular processes and gene expression through regulating histone modification. We used microarrays to detail the global gene expression change in Men1 knockout MEFs and identified up-regulated genes during this process.

2017-08-22 | GSE87733 | GEO

Differential pancreatic islet global gene expression in young heterozygous Men1 mice and wildtype littermates

2011-06-02 | GSE29674 | GEO

Loss of MEN1 activates DNMT1 implicating DNA hypermethylation as a driver of MEN1 tumorigenesis

Project description:Multiple endocrine neoplasia type 1 (MEN1) syndrome is the result of mutations in the MEN1 gene and results in tumor formation via mechanisms that are not well understood. Using a novel genome-wide methylation analysis, we studied tissues from patients with MEN1-parathyroid tumors, tissues from Men1 knockout (KO) mouse models, and mouse Men1 null mouse embryonic fibroblast (MEF) cell lines. Tissues from KO mice were used to confirm and assess the findings from the MEN1 clinical samples and further explore the molecular mechanisms of global epigenetic changes following the inactivation of menin. We demonstrated that the inactivation of menin results in enhanced activity of DNA (cytosine-5)-methyltransferase 1 (DNMT1) by retinoblastoma-binding protein 5 (Rbbp5) activation in MEN1 tumor tissues. The increased activity of DNMT1 mediated global DNA hypermethylation, which in turn resulted in aberrant activation of the Wnt/Î²-catenin signaling pathway through inactivation of Sox regulatory genes. Our study provides important insights into the possible regulatory role of menin in DNA methylation and its impact on the pathogenesis of MEN1 tumor development. Global DNA methylation in tissues from patients with MEN1-parathyroid tumors. Thirty-eight human parathyroid specimens were used: 13 sporadic (non-MEN1) parathyroid adenomas, 12 MEN1-parathyroid tumors, 4 parathyroid carcinomas, and 9 normal parathyroids.

2015-12-22 | E-GEOD-64412 | biostudies-arrayexpress

Loss of MEN1 activates DNMT1 implicating DNA hypermethylation as a driver of MEN1 tumorigenesis

2015-12-22 | GSE64412 | GEO

Pedigree Study and Functional Analysis of Novel Germline p. R21Afs MEN1 Mutation in a Multiple Endocrine Neoplasia Type 1 Family

Project description:Pedigree Study and Functional Analysis of Novel Germline p. R21Afs MEN1 Mutation in a Multiple Endocrine Neoplasia Type 1 Family

| PRJNA917289 | ENA

RNA-seq analysis of Men1-/- versus Men1wt MN1-driven AML

Project description:Purpose: To characterize transcriptional changes associated with homozygous inactivation of Men1 in MN1 driven AML Methods: In vivo MN1 transformed cells were transduced with Cre-vector to inactivate Men1 and injected into sublethially irradiated syngeneic recipients. Men1-/- and Men1wt MN1-driven leukemic cells were isolated from moribund recipients and plated in methylcellulose for 7 days before RNA was extracted. Results: Men1-/- MN1-driven leukemic cells failed to propagate leukemia in most secondary recipients, in comparison with Men1wt MN1-driven. In vitro, cells had lost their colony forming activity. Gene expression analysis revealed a downregulation of the MN1 leukemic expression program. Conclusions: Men1 regulates long term maintenance of MN1-driven leukemia.

2020-05-09 | GSE150151 | GEO

Expression data of siRNA interfere men1 expression in N2a cell line

Project description:Menin (MEN1) is a critical modulator of tissue development and maintenance.Although menin is abundantly expressed in the nervous system, little is known with regards to its function in the adult brain. To explore molecular mechanisms associated with the phenotypes observed upon neuronal Men1 deletion, we profiled transcriptomes from the Neuro2a(N2a) cells transfected Men1 siRNA USING NimbleGen Mouse gene expression array [100718_MM9_EXP].

2018-07-17 | GSE115344 | GEO

Differentially regulated genes in adipocytes derived from Men1-null vs WT mouse embryonic stem cells

Project description:MEN1 is a tumor suppressor gene loss of which causes lipoma (fatty tumors under the skin) and many other endocrine and non-endocrine tumors. It's target genes in fat cells (adipocytes) are unknown. Gene expression in adipocytes that were in vitro differentiated from mouse embryonic stem cells (mESCs) of Men1-nul l(Men1-KO) and WT mice were compared to assess the expression of genes upon menin loss in adipocytes that could lead to the deveopment of lipoma. mESCs (Men1-null and WT) were in vitro differentaited into adipocytes. Positive oil red O staining indicated successful differentiation into adipocytes. The cells were processed for RNA isolation. RNA preps were used for microarray analysis.

2016-02-03 | E-GEOD-65859 | biostudies-arrayexpress

Genome-wide changes in H3K4me3 after MEN1 silencing in MCF-7 cells

Project description:We performed ChIP-seq using H3K4me3 antibodies in MCF-7 cells after induction of small hairpin RNA's directed at the MEN1 mRNA or a control sequence. We demonstrate that at a selected group of loci H3K4me3 is affected by MEN1 silencing.

2017-03-09 | GSE85315 | GEO

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