keyword
https://read.qxmd.com/read/38335290/cdca7-associated-global-aberrant-dna-hypomethylation-translates-to-localized-tissue-specific-transcriptional-responses
#1
JOURNAL ARTICLE
Maja Vukic, Jihed Chouaref, Veronica Della Chiara, Serkan Dogan, Fallon Ratner, Jenna Z M Hogenboom, Trevor A Epp, Kallayanee Chawengsaksophak, Kelly K D Vonk, Cor Breukel, Yavuz Ariyurek, David San Leon Granado, Susan L Kloet, Lucia Daxinger
Disruption of cell division cycle associated 7 (CDCA7) has been linked to aberrant DNA hypomethylation, but the impact of DNA methylation loss on transcription has not been investigated. Here, we show that CDCA7 is critical for maintaining global DNA methylation levels across multiple tissues in vivo. A pathogenic Cdca7 missense variant leads to the formation of large, aberrantly hypomethylated domains overlapping with the B genomic compartment but without affecting the deposition of H3K9 trimethylation (H3K9me3)...
February 9, 2024: Science Advances
https://read.qxmd.com/read/38187757/cdca7-is-a-hemimethylated-dna-adaptor-for-the-nucleosome-remodeler-hells
#2
Isabel E Wassing, Atsuya Nishiyama, Moeri Hiruta, Qingyuan Jia, Reia Shikimachi, Amika Kikuchi, Keita Sugimura, Xin Hong, Yoshie Chiba, Junhui Peng, Christopher Jenness, Makoto Nakanishi, Li Zhao, Kyohei Arita, Hironori Funabiki
Mutations of the SNF2 family ATPase HELLS and its activator CDCA7 cause immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome, characterized by hypomethylation at heterochromatin. The unique zinc-finger domain, zf-4CXXC_R1, of CDCA7 is widely conserved across eukaryotes but is absent from species that lack HELLS and DNA methyltransferases, implying its specialized relation with methylated DNA. Here we demonstrate that zf-4CXXC_R1 acts as a hemimethylated DNA sensor. The zf-4CXXC_R1 domain of CDCA7 selectively binds to DNA with a hemimethylated CpG, but not unmethylated or fully methylated CpG, and ICF disease mutations eliminated this binding...
December 19, 2023: bioRxiv
https://read.qxmd.com/read/38181024/integrated-bioinformatics-analysis-and-experimental-validation-identified-cdca-families-as-prognostic-biomarkers-and-sensitive-indicators-for-rapamycin-treatment-of-glioma
#3
JOURNAL ARTICLE
Ren Li, Yang Chen, Biao Yang, Ziao Li, Shule Wang, Jianhang He, Zihan Zhou, Xuepeng Li, Jiayu Li, Yanqi Sun, Xiaolong Guo, Xiaogang Wang, Yongqiang Wu, Wenju Zhang, Geng Guo
The cell division cycle associated (CDCA) genes regulate the cell cycle; however, their relationship with prognosis in glioma has been poorly reported in the literature. The Cancer Genome Atlas (TCGA) was utilized to probe the CDCA family in relation to the adverse clinical features of glioma. Glioma single-cell atlas reveals specific expression of CDCA3, 4, 5, 8 in malignant cells and CDCA7 in neural progenitor cells (NPC)-like malignant cells. Glioma data from TCGA, the China Glioma Genome Atlas Project (CGGA) and the gene expression omnibus (GEO) database all demonstrated that CDCA2, 3, 4, 5, 7 and 8 are prognostic markers for glioma...
2024: PloS One
https://read.qxmd.com/read/38168392/the-icf-syndrome-protein-cdca7-harbors-a-unique-dna-binding-domain-that-recognizes-a-cpg-dyad-in-the-context-of-a-non-b-dna
#4
Swanand Hardikar, Ren Ren, Zhengzhou Ying, John R Horton, Matthew D Bramble, Bin Liu, Yue Lu, Bigang Liu, Jiameng Dan, Xing Zhang, Xiaodong Cheng, Taiping Chen
CDCA7 , encoding a protein with a C-terminal cysteine-rich domain (CRD), is mutated in immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome, a disease related to hypomethylation of juxtacentromeric satellite DNA. How CDCA7 directs DNA methylation to juxtacentromeric regions is unknown. Here, we show that the CDCA7 CRD adopts a unique zinc-binding structure that recognizes a CpG dyad in a non-B DNA formed by two sequence motifs. CDCA7, but not ICF mutants, preferentially binds the non-B DNA with strand-specific CpG hemi-methylation...
December 15, 2023: bioRxiv
https://read.qxmd.com/read/37990035/enhanced-cd19-activity-in-b-cells-contributes-to-immunodeficiency-in-mice-deficient-in-the-icf-syndrome-gene-zbtb24
#5
JOURNAL ARTICLE
Zhengzhou Ying, Swanand Hardikar, Joshua B Plummer, Tewfik Hamidi, Bin Liu, Yueping Chen, Jianjun Shen, Yunxiang Mu, Kevin M McBride, Taiping Chen
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by DNA hypomethylation and antibody deficiency. It is caused by mutations in DNMT3B, ZBTB24, CDCA7, or HELLS. While progress has been made in elucidating the roles of these genes in regulating DNA methylation, little is known about the pathogenesis of the life-threatening hypogammaglobulinemia phenotype. Here, we show that mice deficient in Zbtb24 in the hematopoietic lineage recapitulate the major clinical features of patients with ICF syndrome...
November 22, 2023: Cellular & Molecular Immunology
https://read.qxmd.com/read/37769127/coevolution-of-the-cdca7-hells-icf-related-nucleosome-remodeling-complex-and-dna-methyltransferases
#6
JOURNAL ARTICLE
Hironori Funabiki, Isabel E Wassing, Qingyuan Jia, Ji-Dung Luo, Thomas Carroll
5-Methylcytosine (5mC) and DNA methyltransferases (DNMTs) are broadly conserved in eukaryotes but are also frequently lost during evolution. The mammalian SNF2 family ATPase HELLS and its plant ortholog DDM1 are critical for maintaining 5mC. Mutations in HELLS, its activator CDCA7, and the de novo DNA methyltransferase DNMT3B, cause immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome, a genetic disorder associated with the loss of DNA methylation. We here examine the coevolution of CDCA7, HELLS and DNMTs...
September 28, 2023: ELife
https://read.qxmd.com/read/37686244/the-influence-of-race-ethnicity-on-the-transcriptomic-landscape-of-uterine-fibroids
#7
JOURNAL ARTICLE
Tsai-Der Chuang, Nhu Ton, Shawn Rysling, Derek Quintanilla, Drake Boos, Jianjun Gao, Hayden McSwiggin, Wei Yan, Omid Khorram
The objective of this study was to determine if the aberrant expression of select genes could form the basis for the racial disparity in fibroid characteristics. The next-generation RNA sequencing results were analyzed as fold change [leiomyomas/paired myometrium, also known as differential expression (DF)], comparing specimens from White (n = 7) and Black (n = 12) patients. The analysis indicated that 95 genes were minimally changed in tumors from White (DF ≈ 1) but were significantly altered by more than 1...
August 30, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37510310/high-expression-of-cdca7-in-the-prognosis-of-glioma-and-its-relationship-with-ferroptosis-and-immunity
#8
JOURNAL ARTICLE
Yunhan Wang, Yu Zhao, Zongying Zhang, Jie Zhang, Qiuyun Xu, Xiaorong Zhou, Liming Mao
CDCA7 is a copy number amplification gene that promotes tumorigenesis. However, the clinical relevance and potential mechanisms of CDCA7 in glioma are unclear. CDCA7 expression level data were obtained from the Chinese Glioma Genome Atlas (CGGA) and The Cancer Genome Atlas (TCGA) databases, and the enriched genes and related signaling pathways were explored. Data on genes in CDCA7 -related signaling pathways and nine marker genes of ferroptosis were retrieved and a protein-protein interaction (PPI) network analysis was performed...
July 6, 2023: Genes
https://read.qxmd.com/read/37248764/cdca7-serves-as-a-novel-prognostic-marker-in-human-hepatocellular-carcinoma
#9
JOURNAL ARTICLE
Yuan Tian, Wenwen Han, Long Fu, Kaiji Lv, Shugeng Wu
c-Myc oncogene plays an important role in tumorigenesis, cell division cycle associated 7 (CDCA7), recently found that it is a direct target gene of c-Myc, is upregulated in many tumors, but its role in tumor progression is still poorly understood. CDCA7 expression and prognosis were analyzed in hepatocellular carcinoma using TIMER2.0 and Kaplan-Meier databases, while genomic changes were studied using cbioportal. LinkedOmics identified relevant genes and WebGestalt analyzed the associated pathways. Protein interaction networks were explored using the STRING database, and the core PPI network was analyzed with the MCODE plugin of Cytoscape...
May 29, 2023: Biotechnology & Genetic Engineering Reviews
https://read.qxmd.com/read/37077524/gene-dysregulation-in-acute-hiv-1-infection-early-transcriptomic-analysis-reveals-the-crucial-biological-functions-affected
#10
JOURNAL ARTICLE
Erica Parker, Melinda A Judge, Lucia Pastor, Laura Fuente-Soro, Chenjerai Jairoce, Kim W Carter, Denise Anderson, Inácio Mandomando, Holly D Clifford, Denise Naniche, Peter Neils Le Souëf
INTRODUCTION: Transcriptomic analyses from early human immunodeficiency virus (HIV) infection have the potential to reveal how HIV causes widespread and lasting damage to biological functions, especially in the immune system. Previous studies have been limited by difficulties in obtaining early specimens. METHODS: A hospital symptom-based screening approach was applied in a rural Mozambican setting to enrol patients with suspected acute HIV infection (Fiebig stage I-IV)...
2023: Frontiers in Cellular and Infection Microbiology
https://read.qxmd.com/read/36945532/characterization-of-a-mouse-model-of-icf-syndrome-reveals-enhanced-cd19-activation-in-inducing-hypogammaglobulinemia
#11
Zhengzhou Ying, Swanand Hardikar, Joshua B Plummer, Tewfik Hamidi, Bin Liu, Yueping Chen, Jianjun Shen, Yunxiang Mu, Kevin M McBride, Taiping Chen
UNLABELLED: Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by DNA hypomethylation and antibody deficiency. It is caused by mutations in DNMT3B, ZBTB24, CDCA7 or HELLS . While progress has been made in elucidating the roles of these genes in regulating DNA methylation, little is known about the pathogenesis of the life-threatening hypogammaglobulinemia phenotype. Here we show that mice deficient for Zbtb24 in the hematopoietic lineage recapitulate major clinical features of patients with ICF syndrome...
March 11, 2023: bioRxiv
https://read.qxmd.com/read/36860864/research-into-the-characteristic-molecules-significantly-affecting-liver-cancer-immunotherapy
#12
JOURNAL ARTICLE
Junhong Chen, Hengwei Jin, Hao Zhou, Xufei Hei, Kai Liu
BACKGROUND: The past decade has witnessed unprecedented scientific breakthroughs, including immunotherapy, which has great potential in clinical applications for liver cancer. METHODS: Public data were obtained from The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) databases and analyzed with R software. RESULTS: The LASSO and SVM-RFE machine learning algorithms identified 16 differentially expressed genes (DEGs) related to immunotherapy, namely, GNG8, MYH1, CHRNA3, DPEP1, PRSS35, CKMT1B, CNKSR1, C14orf180, POU3F1, SAG, POU2AF1, IGFBPL1, CDCA7, ZNF492, ZDHHC22, and SFRP2...
2023: Frontiers in Immunology
https://read.qxmd.com/read/36811249/a-meta-analysis-of-mrna-expression-profiling-studies-in-sheep-with-different-fecb-genotypes
#13
REVIEW
Xiaofei Ma, Aiju Liu, Shujun Tian
The FecB mutation in the sheep BMPRIB is strongly correlated with high ovulation traits but its mechanism remains unclear. This study explored differentially expressed genes (DEGs) and their associated molecular mechanisms that may be involved in FecB mutation-induced high ovulation from the perspective of the hypothalamic-pituitary-gonadal (HPG) axis by conducting a systematic review and meta-analysis. The PubMed, EMBASE, CNKI, WanFang, and CBM databases were searched for eligible articles published before August 2022, focusing on mRNA sequencing of different tissues in the HPG axis in sheep with different FecB genotypes...
February 22, 2023: Animal Genetics
https://read.qxmd.com/read/36778482/coevolution-of-the-cdca7-hells-icf-related-nucleosome-remodeling-complex-and-dna-methyltransferases
#14
Hironori Funabiki, Isabel E Wassing, Qingyuan Jia, Ji-Dung Luo, Thomas Carroll
5-Methylcytosine (5mC) and DNA methyltransferases (DNMTs) are broadly conserved in eukaryotes but are also frequently lost during evolution. The mammalian SNF2 family ATPase HELLS and its plant ortholog DDM1 are critical for the maintenance of 5mC. Mutations in HELLS, its activator subunit CDCA7, and the de novo DNA methyltransferase DNMT3B, cause immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome, a genetic disorder associated with the loss of DNA methylation. We here examine the coevolution of CDCA7, HELLS and DNMTs...
February 2, 2023: bioRxiv
https://read.qxmd.com/read/36531699/identification-of-key-programmed-cell-death-related-genes-and-immune-infiltration-in-extracorporeal-membrane-oxygenation-treatment-for-acute-myocardial-infarction-based-on-bioinformatics-analysis
#15
JOURNAL ARTICLE
Jingqi Yang, Xiaochao Ouyang, Ming Yang, Guobo Xie, Qianqiang Cao
BACKGROUND: Extracorporeal membrane oxygenation (ECMO) is an important clinical treatment for acute myocardial infarction (AMI) combined with cardiogenic shock, but the role of programmed cell death (PCD)-related genes in prognostication has not yet been investigated. Therefore, we explored the key prognostic biomarkers and immune infiltration in ECMO treatment in AMI combined with cardiogenic shock. METHODS: The GSE93101 dataset was analyzed from the Gene Expression Omnibus (GEO) database, and the expression levels of PCD-related genes in AMI under ECMO were identified...
2022: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/36458887/novel-compound-heterozygous-mutations-in-uhrf1-are-associated-with-atypical-immunodeficiency-centromeric-instability-and-facial-anomalies-icf-syndrome-with-distinctive-genome-wide-dna-hypomethylation
#16
JOURNAL ARTICLE
Motoko Unoki, Guillaume Velasco, Satomi Kori, Kyohei Arita, Yasukazu Daigaku, Wan Kin Au Yeung, Akihiro Fujimoto, Hirofumi Ohashi, Takeo Kubota, Kunio Miyake, Hiroyuki Sasaki
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is in most cases-caused by mutations in either DNMT3B, ZBTB24, CDCA7, or HELLS. However, the causative genes of a few ICF patients remain unknown. We, herein, identified UHRF1 as a novel causative gene of one such patient with atypical symptoms. This patient is a compound heterozygote for two previously unreported mutations in UHRF1: c.886C > T (p.R296W) and c.1852C > T (p.R618X). The R618X mutation plausibly caused nonsense-mediated decay, while the R296W mutation changed the higher order structure of UHRF1, which is indispensable for the maintenance of CG methylation along with DNMT1...
December 2, 2022: Human Molecular Genetics
https://read.qxmd.com/read/36428585/plasma-extracellular-vesicle-long-rna-in-diagnosis-and-prediction-in-small-cell-lung-cancer
#17
JOURNAL ARTICLE
Chang Liu, Jinying Chen, Jiatao Liao, Yuchen Li, Hui Yu, Xinmin Zhao, Si Sun, Zhihuang Hu, Yao Zhang, Zhengfei Zhu, Min Fan, Shenglin Huang, Jialei Wang
(1) Introduction: The aim of this study was to identify the plasma extracellular vesicle (EV)-specific transcriptional profile in small-cell lung cancer (SCLC) and to explore the application value of plasma EV long RNA (exLR) in SCLC treatment prediction and diagnosis. (2) Methods: Plasma samples were collected from 57 SCLC treatment-naive patients, 104 non-small-cell lung cancer (NSCLC) patients and 59 healthy participants. The SCLC patients were divided into chemo-sensitive and chemo-refractory groups based on the therapeutic effects...
November 9, 2022: Cancers
https://read.qxmd.com/read/36090038/the-molecular-immune-features-and-risk-score-construction-of-intraductal-papillary-mucinous-neoplasm-patients
#18
JOURNAL ARTICLE
Xing Huang, Yipeng Feng, Dawei Ma, Hanlin Ding, Gaochao Dong, Yan Chen, Xiaochen Huang, Jingyuan Zhang, Xinyu Xu, Chen Chen
Intraductal papillary mucinous neoplasm (IPMN) is a common pancreatic precancerous lesion, with increasing incidence in recent years. However, the mechanisms of IPMN progression into invasive cancer remain unclear. The mRNA expression data of IPMN/PAAD patients were extracted from the TCGA and GEO databases. First, based on GSE19650, we analyzed the molecular alterations, tumor stemness, immune landscape, and transcriptional regulation of IPMN progression. The results indicated that gene expression changed dramatically, specifically at the intraductal papillary-mucinous adenoma (IPMA) stage...
2022: Frontiers in Molecular Biosciences
https://read.qxmd.com/read/36056599/cdca7-promotes-tgf-%C3%AE-induced-epithelial-mesenchymal-transition-via-transcriptionally-regulating-smad4-smad7-in-escc
#19
JOURNAL ARTICLE
Hongyi Li, Shaojie Wang, Xiubo Li, Yongjia Weng, Dinghe Guo, Pengzhou Kong, Caixia Cheng, Yanqiang Wang, Ling Zhang, Xiaolong Cheng, Yongping Cui
Cell division cycle associated 7 (CDCA7) is a copy number amplification gene that contributes to the metastasis and invasion of tumors, including esophageal squamous cell carcinoma (ESCC). This present study aimed at clarifying whether high expression of CDCA7 promotes the metastasis and invasion of ESCC cell lines and exploring the underlying mechanisms implicated in EMT of ESCC. The role of CDCA7 in the regulation of ESCC metastasis and invasion was evaluated using ESCC cell lines. Expression of EMT-related markers including E-cadherin, N-cadherin, Vimentin, Snail and Slug, TGF-β signaling pathway including Smad2/3, p-Smad2/3, Smad4 and Smad7 were detected in CDCA7 knockdown and overexpressed cell lines...
September 2, 2022: Cancer Science
https://read.qxmd.com/read/35940131/efp-promotes-growth-of-triple-negative-breast-cancer-cells
#20
JOURNAL ARTICLE
Wataru Sato, Kazuhiro Ikeda, Noriko Gotoh, Satoshi Inoue, Kuniko Horie
Triple-negative breast cancer (TNBC) is characterized by its high ability of invasiveness and metastasis, namely lacking expression of estrogen receptor (ER), progesterone receptor, and HER2. We previously demonstrated that estrogen responsive finger protein (Efp) plays a tumor-promotive role in ER-positive breast cancer, yet it remains to be addressed whether Efp contributes to TNBC pathophysiology. We here found that Efp mRNA and protein were abundantly expressed in TNBC patient-derived cells and MDA-MB-231 cells...
October 8, 2022: Biochemical and Biophysical Research Communications
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