CFAP157

Last update 08 May 2025

Basic Info

Synonyms

C9orf117, CFAP157, cilia and flagella associated protein 157

+ [1]

Introduction

Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility. May be required to suppress the formation of supernumerary axonemes and ensure a correct ultrastructure.

100 Clinical Results associated with CFAP157

100 Translational Medicine associated with CFAP157

0 Patents (Medical) associated with CFAP157

Literatures (Medical) associated with CFAP157

01 Jan 2023·Frontiers in endocrinology

Identifying potential biomarkers for non-obstructive azoospermia using WGCNA and machine learning algorithms.

Article

Author: Wei, Letian ; Su, Quanxin ; Tang, Qizhen ; Jiang, Tao ; Wang, Kenan

ObjectiveThe cause and mechanism of non-obstructive azoospermia (NOA) is complicated; therefore, an effective therapy strategy is yet to be developed. This study aimed to analyse the pathogenesis of NOA at the molecular biological level and to identify the core regulatory genes, which could be utilised as potential biomarkers.MethodsThree NOA microarray datasets (GSE45885, GSE108886, and GSE145467) were collected from the GEO database and merged into training sets; a further dataset (GSE45887) was then defined as the validation set. Differential gene analysis, consensus cluster analysis, and WGCNA were used to identify preliminary signature genes; then, enrichment analysis was applied to these previously screened signature genes. Next, 4 machine learning algorithms (RF, SVM, GLM, and XGB) were used to detect potential biomarkers that are most closely associated with NOA. Finally, a diagnostic model was constructed from these potential biomarkers and visualised as a nomogram. The differential expression and predictive reliability of the biomarkers were confirmed using the validation set. Furthermore, the competing endogenous RNA network was constructed to identify the regulatory mechanisms of potential biomarkers; further, the CIBERSORT algorithm was used to calculate immune infiltration status among the samples.ResultsA total of 215 differentially expressed genes (DEGs) were identified between NOA and control groups (27 upregulated and 188 downregulated genes). The WGCNA results identified 1123 genes in the MEblue module as target genes that are highly correlated with NOA positivity. The NOA samples were divided into 2 clusters using consensus clustering; further, 1027 genes in the MEblue module, which were screened by WGCNA, were considered to be target genes that are highly correlated with NOA classification. The 129 overlapping genes were then established as signature genes. The XGB algorithm that had the maximum AUC value (AUC=0.946) and the minimum residual value was used to further screen the signature genes. IL20RB, C9orf117, HILS1, PAOX, and DZIP1 were identified as potential NOA biomarkers. This 5 biomarker model had the highest AUC value, of up to 0.982, compared to other single biomarker models; additionally, the results of this biomarker model were verified in the validation set.ConclusionsAs IL20RB, C9orf117, HILS1, PAOX, and DZIP1 have been determined to possess the strongest association with NOA, these five genes could be used as potential therapeutic targets for NOA patients. Furthermore, the model constructed using these five genes, which possessed the highest diagnostic accuracy, may be an effective biomarker model that warrants further experimental validation.

01 Nov 2019·Clinical & Experimental AllergyQ2 · MEDICINE

Dysregulation of sputum columnar epithelial cells and products in distinct asthma phenotypes

Q2 · MEDICINE

Article

Author: Baines, Katherine J. ; Gibson, Peter G. ; Fricker, Michael ; Powell, Heather ; Qin, Ling ; McDonald, Vanessa M. ; Simpson, Jodie L. ; Wood, Lisa G.

AbstractBackgroundDysfunction of the bronchial epithelium plays an important role in asthma; however, its measurement is challenging. Columnar epithelial cells are often quantified, yet rarely analysed, in induced sputum studies.ObjectiveWe aimed to test whether sputum columnar epithelial cell proportion and count are altered in asthma, and whether they are associated with clinical and inflammatory variables. We aimed to test whether sputum‐based measures could provide a relatively non‐invasive means through which to monitor airway epithelial activation status.MethodsWe examined the relationship of sputum columnar epithelial cells with clinical and inflammatory variables of asthma in a large retrospective cross‐sectional cohort (901 participants with asthma and 138 healthy controls). In further studies, we used flow cytometry, microarray, qPCR and ELISA to characterize sputum columnar epithelial cells and their products.ResultsMultivariate analysis and generation of 90th centile cut‐offs (≥11% or ≥18.1 × 104/mL) to identify columnar epithelial cell “high” asthma revealed a significant relationship between elevated sputum columnar cells and male gender, severe asthma and non‐neutrophilic airway inflammation. Flow cytometry showed viable columnar epithelial cells were present in all sputum samples tested. An epithelial gene signature (SCGB3A1, LDLRAD1, FOXJ1, DNALI1, CFAP157, CFAP53) was detected in columnar epithelial cell‐high sputum. CLCA1 mRNA and periostin protein, previously identified biomarkers of IL‐13‐mediated epithelial activation, were elevated in columnar epithelial cell‐high sputum samples, but only when accompanied by eosinophilia.Conclusions & clinical relevanceSputum columnar epithelial cells are related to important clinical and inflammatory variables in asthma. Measurement of epithelial biomarkers in sputum samples could allow non‐invasive assessment of altered bronchial epithelium status in asthma.

15 Dec 2016·DevelopmentQ2 · BIOLOGY

CFAP157 is a murine downstream effector of FOXJ1 that is specifically required for flagellum morphogenesis and sperm motility

Q2 · BIOLOGY

Article

Author: Boldt, Karsten ; Gossler, Achim ; Stauber, Michael ; Schuster-Gossler, Karin ; Weidemann, Marina ; Serth, Katrin ; Wrede, Christoph ; Beyer, Tina ; Blum, Martin ; Hegermann, Jan ; Ueffing, Marius ; Kremmer, Elisabeth ; Ott, Tim

Motile cilia move extracellular fluids or mediate cellular motility. Their function is essential for embryonic development, adult tissue homeostasis and reproduction throughout vertebrates. FOXJ1 is a key transcription factor for the formation of motile cilia but its downstream genetic programme is only partially understood. Here, we characterise a novel FOXJ1 target, Cfap157, that is specifically expressed in motile ciliated tissues in mouse and Xenopus in a FOXJ1-dependent manner. CFAP157 protein localises to basal bodies and interacts with tubulin and the centrosomal protein CEP350. Cfap157 knockout mice appear normal but homozygous males are infertile. Spermatozoa display impaired motility and a novel phenotype: Cfap157-deficient sperm exhibit axonemal loops, supernumerary axonemal profiles with ectopic accessory structures, excess cytoplasm and clustered mitochondria in the midpiece regions, and defective axonemes along the flagella. Our study thus demonstrates an essential sperm-specific function for CFAP157 and suggests that this novel FOXJ1 effector is part of a mechanism that acts during spermiogenesis to suppress the formation of supernumerary axonemes and ensures a correct ultrastructure.

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