Ask about this productRelated genes to: MCTS1 antibody
- Gene:
- MCTS1 NIH gene
- Name:
- MCTS1 re-initiation and release factor
- Previous symbol:
- -
- Synonyms:
- MCT-1
- Chromosome:
- Xq24
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-17
- Date modifiied:
- 2019-01-22
Related products to: MCTS1 antibody
Related articles to: MCTS1 antibody
- X-linked recessive (XR) complete MCTS1 deficiency underlies Mendelian susceptibility to mycobacterial disease (MSMD) in patients with bacille Calmette-Guérin (BCG) disease. We investigated the genotypic and phenotypic landscape of four new unrelated families from four distinct countries. Three patients had adverse reactions to the BCG vaccine, whereas another patient was not vaccinated with BCG and had an infection with at 16 years of age. Whole-exome sequencing of the probands revealed hemizygosity for rare germline variants. In addition to a previously reported loss-of-expression (LOE) and loss-of-function (LOF) variant, we identified three new variants. The p.L170* and E60Kfs5* variants are LOF, whereas p.W175* is hypomorphic when overexpressed. Thus, we report four new MSMD patients with complete or partial forms of XR MCTS1 deficiency, including three patients with newly discovered genotypes. A diagnosis of partial or complete XR MCTS1 deficiency should be considered in boys and men with MSMD displaying mycobacterial infection. - Source: PubMed
Publication date: 2026/01/30
Zhou QinhuaBagarić IvanKomma FabianPrakash ChandhanaAbolhassani HassanChavoshzadeh ZahraTsao LuluVatovec TajaSoudée CamilleRosain JérémieMinter Daniel JLu ConnyAl-Sukaiti NashatWu BingbingSun JinqiaoZhang QianCasanova Jean-LaurentPan-Hammarström QiangChan Alice YAl-Farsi TariqWang XiaochuanBustamante JacintaBohlen Jonathan - Hemoglobinopathies are the most common monogenic genetic disorders, primarily managed through blood transfusions or bone marrow transplantation. Clinical severity other than mutational effect is not well investigated and still unknown. This study aimed to identify dysregulated molecular pathways in red blood cells (RBCs) contributing to thalassemia severity. From a cohort of 285 patients with hemoglobinopathy, 10 age-matched individuals with identical compound heterozygous mutations (IVS 1-5 G>C and CD 26 G>A) were screened. Five had severe thalassemia requiring regular transfusions, whereas 5 had a nonsevere form requiring fewer transfusions. RNA sequencing and proteome analysis were conducted on isolated RBCs using NovaSeq and Orbitrap mass spectrometry platforms, respectively. Bioconductor R and different bioinformatics tools were used subsequently. Integrated transcriptome-proteome analysis revealed a global loss of messenger RNA-protein concordance. CDK11A and MCTS1 lost positive correlation, whereas RLP38 and H3C1 showed compensatory overtranslation, linked to transcription factors regulating erythropoiesis. In transfusion-dependent thalassemia (TDT), WNK3, HNRNPUL1, COPS7A, and HTATSF1 displayed discordant expression, indicating posttranscriptional aberrations. Protein-to-transcript ratio analysis showed reduced cytoskeletal (ankyrin, spectrin) expression, elevated chaperone activity, elevated ferroptosis markers (ferritin heavy chain 1, ferritin light chain, heme oxygenase-1), and suppressed autophagy. Collectively, these multilayered alterations, including splicing dysfunction, posttranscriptional deregulation, ferroptosis, autophagy suppression, oxidative stress, and cytoskeletal fragility, underlie the greater disease severity observed in TDT than non-transfusion-dependent thalassemia. - Source: PubMed
Mitra NibeditaBhattacharyya UpasanaChowdhury ProsantoPal ArijitM Korwar ArvindBhattacharjee SamsidhhiBasu Anupam - Although eukaryotic initiation factor 2D (eIF2D) is implicated in translation initiation, reinitiation, and ribosome recycling, its precise role remains unclear. Here, we show that eIF2D promotes 40S ribosome recycling during intrinsic ribosome destabilization (IRD), a process in which ribosomes stochastically destabilize while translating proteins with consecutive acidic amino acids at their NH2-terminus. Unrecycled 40S ribosomes accumulate in eIF2D-deficient cells, leading to 80S ribosome stalling. Selective translation complex profiling (TCP-seq) reveals that eIF2D preferentially associates with IRD-prone regions. The winged helix domain, unique to eIF2D but absent in MCTS1-DENR, enhances its binding to 40S subunits, but likely clashes with ABCE1 during stop-codon-associated recycling. Loss of eIF2D reduces the expression of IRD-inducing proteins, including splicing factors. Together, these findings define a previously unappreciated role for eIF2D in 40S recycling and clarify its mechanistic divergence from the MCTS1-DENR complex. - Source: PubMed
Ichihara KazuyaShiraishi TaichiChadani YuheiKito YukiShiraishi ChisaHirata MinaTakahashi YutaKobo AkinaoHatano AtsushiMatsumoto MasakiMachida KodaiImataka HiroakiToyoda AtsushiMishiro-Sato EmiNojima TakayukiIto TakuhiroTaguchi HidekiNakayama Keiichi IMatsumoto Akinobu - Genomic amplification may result in aberrant gene expression and support development of cancer, including chronic myeloid leukemia (CML). In CML cell line K-562, we recently reported overexpression of TBX1 located at chromosomal position 22q11, focally co-amplified together with BCR, part of the CML hallmark fusion gene BCR::ABL1. Here, we extended that study, by identifying genomically amplified and overexpressed MAPK1/ERK2 at 22q11 together with MCTS1 at Xq22. Using pharmacological inhibitors and siRNA-mediated knockdown assays, our data collectively revealed novel regulatory connections between TBX1, MAPK1 and MCTS1, which may play a role in drug resistance. - Source: PubMed
Publication date: 2025/09/18
Kortendick LeoMeyer CorinnaNagel Stefan - Systemic lupus erythematosus (SLE) is an immune-mediated disease with widespread involvement, and its pathogenesis remains incompletely understood. Recent studies suggest that modifications such as acetylation and lactylation play crucial roles in SLE progression, with potential interrelationships between them. This study aimed to identify biomarker genes co-associated with both lactylation and acetylation and to explore their potential mechanisms in SLE pathogenesis. Microarray data from peripheral blood mononuclear cells (PBMCs) of SLE patients and healthy controls were obtained from the Gene Expression Omnibus (GEO) database. In the training dataset (GSE81622), differential expression analysis was performed to compare SLE samples with healthy controls. Lactate- and acetylation-related genes were used to identify differentially expressed lactate-related genes (LR-DEGs) and acetylation-related genes (AR-DEGs). Genes co-associated with both lactylation and acetylation were further examined. LASSO regression, support vector machine recursive feature elimination (SVM-RFE), and ROC curve analysis were used to identify hub genes. Immune infiltration analysis and a clinical nomogram model were developed for accurate diagnosis and treatment prediction. qPCR was used to validate the hub genes. A total of 1181 differentially expressed genes (DEGs) were identified between SLE and healthy groups. Of these, 33 LR-DEGs and 28 AR-DEGs were identified. Seven genes were found to be co-associated with both lactylation and acetylation. Using LASSO and SVM-RFE, two hub genes, CDCA5 and MCTS1, were identified and validated in the GSE24706 dataset. ROC curve analysis and clinical nomogram revealed significant associations of these biomarkers with SLE pathogenesis. Our study identifies CDCA5 and MCTS1 as potential biomarkers for SLE, potentially influencing its pathogenesis through histone lactylation and acetylation. Experimental validation confirmed their differential expression between SLE patients and healthy controls. These findings underscore the role of epigenetic modifications in SLE, offering new insights into its regulatory mechanisms and immune interactions. - Source: PubMed
Publication date: 2025/05/22
Gao ZhanyanFeng YangZheng ChenghuiLi FeiSun ZhanXiang MengmengZhu JunrongChu MingyuXu JinhuaLiang Jun