Ask about this productRelated genes to: MBD1 antibody
- Gene:
- MBD1 NIH gene
- Name:
- methyl-CpG binding domain protein 1
- Previous symbol:
- -
- Synonyms:
- PCM1, CXXC3
- Chromosome:
- 18q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 1997-10-29
- Date modifiied:
- 2016-10-05
Related products to: MBD1 antibody
Related articles to: MBD1 antibody
- - Source: PubMed
Karsan Aly - Preeclampsia (PE) is a serious pregnancy-specific hypertensive disorder with unclear pathogenesis. Mitochondrial dysfunction in trophoblasts is implicated in PE. This study aimed to explore the functional mechanism of succinate dehydrogenase complex subunit D (SDHD) in PE. Placental tissues were obtained from PE patients and normotensive pregnant controls. Hypoxia/reoxygenation (H/R) injury was induced in HTR-8/Svneo cells, and a preeclampsia-like rat model was established using reduced uterine perfusion pressure (RUPP) surgery. Cell viability, proliferation, migration, and invasion were evaluated using CCK-8, EdU staining, wound healing, and Transwell assays. Mitochondrial function was assessed by measuring reactive oxygen species (ROS) production, membrane potential, oxygen consumption rate (OCR), mitochondrial DNA (mtDNA) copy number, and electron transport chain (ETC) complex activities. Interactions were examined by co-immunoprecipitation (Co-IP) and chromatin immunoprecipitation (ChIP), while SDHD promoter methylation was assessed using methylation-specific PCR (MSP). SDHD expression was downregulated in human PE placentas and in H/R-induced HTR-8/Svneo cells. SDHD overexpression ameliorated H/R-induced mitochondrial dysfunction, restored HTR-8/Svneo cell proliferation, migration, and invasion, and alleviated disease features in RUPP rats. Mechanistically, MBD1 recruited DNMT1 to the SDHD promoter, leading to transcriptional repression of SDHD. The impairment of mitochondrial function and trophoblast behaviors of MBD1 knockdown was reversed by SDHD depletion. MBD1 recruited DNMT1 to enhance SDHD promoter methylation and suppress its expression, thereby inducing mitochondrial dysfunction in trophoblast cells and ultimately promoting PE progression. - Source: PubMed
Huang ShaopingSu QingLi XuechunZhang Yang - BCL6 is a master transcriptional regulator of germinal center (GC) B cells. BCL6 is frequently translocated at the major translocation cluster (MTC) within intron 1 of the BCL6 locus, a hotspot commonly rearranged in diffuse large B cell lymphomas (DLBCLs). BCL6 amplifications are associated with therapeutic resistance and poor survival outcomes in hematological and solid cancers. However the mechanisms suppressing genome instability at the BCL6-MTC preventing BCL6 rearragements remain unclear. Here, transcriptome analysis and genome-wide mapping of histone H3 lysine 4 trimethylation (H3K4me3) in hydroxyurea (HU)-treated Raji cells (a Burkitt's lymphoma model) revealed the induced expression of MBD1, encoding the DNA CpG methylation-binding protein. Functional studies using shRNA silencing and ectopic overexpression demonstrated that MBD1 suppresses BCL6 transcription whose promoter harbors conserved CpG methylation sites, suggesting a DNA methylation-dependent regulation of BCL6 trasncription by MBD1. Conversely, BCL6 repressed MBD1 expression by binding to its promoter. MBD1-depleted Raji cells exhibited increased genomic instability at the BCL6-MTC upon HU treatment, heightened sensitivity to DNA replication inhibitors (HU, gemcitabine, and etoposide), and reduced tumorigenicity in xenograft mouse models. We propose that MBD1 prevents genomic instability at the BCL6-MTC to suppress DLBCL formation. Moreover, MBD1 promotes genomic stability and cell viability during DNA replication stress. MBD1 thus represents a potential therapeutic target for cancers exhibiting resistance to chemotherapies targeting DNA replication. - Source: PubMed
Gothwal Santosh KumarOichai KyokoKim HongtaeMyung KyungjaeBarlow Jacqueline H - To investigate the effects of methyl-CpG binding domain protein 1 (MBD1) on proliferation, migration, and angiogenesis in human umbilical vein endothelial cells (HUVECs). - Source: PubMed
Dan YutongZhang TingfuLiu HongmeiZhang Peng - Myotonic Dystrophy type 1 (DM1) is an autosomal multisystem disorder manifested due to unstable CTG nucleotide repeat expansion within the 3'-untranslated region of the dystrophia myotonica protein kinase () gene. Although progress towards understanding of molecular pathogenesis in muscle and heart has been made, the pathways that affect the brain in DM1 is fundamentally unknown. In addition, the congenital DM1 manifest even more complicated brain abnormalities. Despite the wealth of existing cellular and animal models, iPSCs based studies are being fostered as they replicate the human model more closely to the disease. In view of this context, we set out to characterize the differentiation potential of congenital DM1 patient derived iPSC lines towards neuronal cells. Using neurogenin2 (NGN2) induced direct reprogramming of iPSCs into neurons and chemically defined media-induced neural induction protocol, we find that congenital DM1 mutant iPSC derived neurons exhibited precocious differentiation, as evidenced by their expression of pan-neuronal markers TUJ1 and Map2, along with increased processes extension and neurite length. Moreover, unbiased RNA sequencing analyses and qPCR validation revealed precocious and enhanced expression of several neurogenic transcription factors including, Ascl1, NeuroG2, and NeuroD1. Furthermore, immunofluorescence imaging of MBNL1 and MBNL2, RNA-splicing factors, displayed enhanced nuclear aggregations, a hallmark of the DM1 disease, in the mutant lines. Moreover, investigation of RNA splicing events identified mis-splicing in many important genes/transcripts including RMST, ANK3 and MBD1 during the neural conversion of congenital DM1 lines. These studies reveal novel paradigms that may contribute to neurological pathogenesis in CDM1 patients. These studies also provide a strong foundation for future mechanistic investigation aimed at understanding CDM1 pathology and may open new avenues for the development of gene therapy approaches for individuals with DM1. - Source: PubMed
Publication date: 2026/07/01
Thumu Surya Chandra RaoGonzales Jean PatrickMunir SohaTuck ConnorDominguez OscarSingh Sandeep K