CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity

Formicola, Daniela; Lasorsa, Vito Alessandro; Cantalupo, Sueva; Testori, Alessandro; Cardinale, Antonella; Avitabile, Marianna; Diskin, Sharon J.; Iolascon, Achille; Capasso, Mario

doi:10.1016/j.xhgg.2022.100158

Cited by 2 publications

(3 citation statements)

References 59 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition, Wnt/β-catenin signaling in the AV canal regulates specific electrophysiological properties of the AVC and AV node by slowing down conduction velocity [68]. It has been recently reported that CFDP1 is also a neuroblastoma (NB) susceptibility gene [10]. The authors show in this manuscript that it regulates several noradrenergic neuronal genes that could explain the arrythmias in our zebrafish model.…”

Section: The Role Of Cfdp1 In Ventricular Trabeculation and Cardiac F...mentioning

confidence: 71%

“…Recently, a study that used UK Biobank data [5] to evaluate the validity of FDR loci and conducted a meta-analysis using CAD GWAS identified new loci at GWAS significance that were previously on 5% FDR, providing support that variants in this threshold could hold the key for a higher percentage of heritability [4]. Recent publications derived from the analysis of GWAS 2 of 20 human data have highlighted the involvement of BCNT/CFDP1 (Bucentaur/craniofacial development protein 1, hereafter referred to as CFDP1) in the determinants of risk factors for CAD, blood pressure, aortic diameter, neuroblastoma (NB) susceptibility and carotid intima-media thickness, raising the interest for a deeper understanding of the functional analysis of the CFDP1 gene in cardiovascular development and function [6][7][8][9][10].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Cfdp1 Is Essential for Cardiac Development and Function

Giardoglou

Deloukas

Dedoussis

et al. 2023

Cells

View full text Add to dashboard Cite

Cardiovascular diseases (CVDs) are the prevalent cause of mortality worldwide. A combination of environmental and genetic effectors modulates the risk of developing them. Thus, it is vital to identify candidate genes and elucidate their role in the manifestation of the disease. Large-scale human studies have revealed the implication of Craniofacial Development Protein 1 (CFDP1) in Coronary Artery Disease (CAD). CFDP1 belongs to the evolutionary conserved Bucentaur (BCNT) family, and to date, its function and mechanism of action in Cardiovascular Development are still unclear. We utilized zebrafish to investigate the role of cfdp1 in the developing heart due to the high genomic homology, similarity in heart physiology, and ease of experimental manipulations. We showed that cfdp1 was expressed during development, and we tested two morpholinos and generated a cfdp1 mutant line. The cfdp1−/− embryos developed arrhythmic hearts and exhibited defective cardiac performance, which led to a lethal phenotype. Findings from both knockdown and knockout experiments showed that abrogation of cfdp1 leads to downregulation of Wnt signaling in embryonic hearts during valve development but without affecting Notch activation in this process. The cfdp1 zebrafish mutant line provides a valuable tool for unveiling the novel mechanism of regulating cardiac physiology and function. cfdp1 is essential for cardiac development, a previously unreported phenotype most likely due to early lethality in mice. The detected phenotype of bradycardia and arrhythmias is an observation with potential clinical relevance for humans carrying heterozygous CFDP1 mutations and their risk of developing CAD.

show abstract

Section: The Role Of Cfdp1 In Ventricular Trabeculation and Cardiac F...mentioning

confidence: 71%

Section: Introductionmentioning

confidence: 99%

Cfdp1 Is Essential for Cardiac Development and Function

Giardoglou

Deloukas

Dedoussis

et al. 2023

Cells

View full text Add to dashboard Cite

show abstract

“…In contrast, in hepatocellular carcinoma, CFDP1 overexpression was associated with shorter OS (hazard ratio: 2, p = 0.012) and DFS (hazard ratio: 1.8, p = 0.0099), promoting cancer progression by activating the NEDD4/PTEN/PI3K/AKT signaling pathway [ 54 ]. Additionally, in neuroblastoma, CFDP1 overexpression has been reported to be associated with shorter OS ( p = 9.7 × 10 −9 ) and event-free survival ( p = 5.2 × 10 −7 ) [ 55 ]. Among the eight Korean PRCC patients in whom metastasis was discovered in our study, the survival-specific genes observed at high frequency were CFDP1 in four patients (50%), SPATA13 in three patients (37.5%), and JAK1 in two patients (25%).…”

Section: Discussionmentioning

confidence: 99%

Discovery and Validation of Survival-Specific Genes in Papillary Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel

Hwang,

Bang,

Choi

et al. 2024

Cancers

View full text Add to dashboard Cite

Purpose: Papillary renal cell carcinoma (PRCC), the second most common kidney cancer, is morphologically, genetically, and molecularly heterogeneous with diverse clinical manifestations. Genetic variations of PRCC and their association with survival are not yet well-understood. This study aimed to identify and validate survival-specific genes in PRCC and explore their clinical utility. Materials and Methods: Using machine learning, 293 patients from the Cancer Genome Atlas-Kidney Renal Papillary Cell Carcinoma (TCGA-KIRP) database were analyzed to derive genes associated with survival. To validate these genes, DNAs were extracted from the tissues of 60 Korean PRCC patients. Next generation sequencing was conducted using a customized PRCC gene panel of 202 genes, including 171 survival-specific genes. Kaplan–Meier and Log-rank tests were used for survival analysis. Fisher’s exact test was performed to assess the clinical utility of variant genes. Results: A total of 40 survival-specific genes were identified in the TCGA-KIRP database through machine learning and statistical analysis. Of them, 10 (BAP1, BRAF, CFDP1, EGFR, ITM2B, JAK1, NODAL, PCSK2, SPATA13, and SYT5) were validated in the Korean-KIRP database. Among these survival gene signatures, three genes (BAP1, PCSK2, and SPATA13) showed survival specificity in both overall survival (OS) (p = 0.00004, p = 1.38 × 10−7, and p = 0.026, respectively) and disease-free survival (DFS) (p = 0.00002, p = 1.21 × 10−7, and p = 0.036, respectively). Notably, the PCSK2 mutation demonstrated survival specificity uniquely in both the TCGA-KIRP (OS: p = 0.010 and DFS: p = 0.301) and Korean-KIRP (OS: p = 1.38 × 10−7 and DFS: p = 1.21 × 10−7) databases. Conclusions: We discovered and verified genes specific for the survival of PRCC patients in the TCGA-KIRP and Korean-KIRP databases. The survival gene signature, including PCSK2 commonly obtained from the 40 gene signature of TCGA and the 10 gene signature of the Korean database, is expected to provide insight into predicting the survival of PRCC patients and developing new treatment.

show abstract

CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity

Cited by 2 publications

References 59 publications

Cfdp1 Is Essential for Cardiac Development and Function

Cfdp1 Is Essential for Cardiac Development and Function

Discovery and Validation of Survival-Specific Genes in Papillary Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel

Contact Info

Product

Resources

About