C1D

Last update 08 May 2025

Basic Info

Synonyms

C1D, C1D nuclear receptor corepressor, hC1D

+ [5]

Introduction

Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB (By similarity).

100 Clinical Results associated with C1D

100 Translational Medicine associated with C1D

0 Patents (Medical) associated with C1D

Literatures (Medical) associated with C1D

01 Dec 2024·European Respiratory Journal

Pathogenic variants inCFAP46,CFAP54,CFAP74andCFAP221cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus

Article

Author: Biebach, Luisa ; Wohlgemuth, Kai ; Dworniczak, Bernd ; Hoersting, Niklas ; George, Sebastian ; Cindrić, Sandra ; Raidt, Johanna ; Olbrich, Heike ; Loges, Niki Tomas ; Koenig, Julia ; Schramm, Andre ; Dougherty, Gerard W ; Dougherty, Gerard W. ; Pennekamp, Petra ; Lay, Simon ; Omran, Heymut

BackgroundPrimary ciliary dyskinesia is a rare genetic disorder caused by insufficient mucociliary clearance leading to chronic airway infections. The diagnostic guideline of the European Respiratory Society primarily recommends an evaluation of the clinical history (e.g.by the PICADAR prediction tool), nasal nitric oxide production rate measurements, high-speed videomicroscopy analysis of ciliary beating and an assessment of ciliary axonemesviatransmission electron microscopy. Genetic testing can be implemented as a last step.AimsIn this study, we aimed to characterise primary ciliary dyskinesia with a defective C1d projection of the ciliary central apparatus and we evaluated the applicability of the European Respiratory Society diagnostic guideline to this primary ciliary dyskinesia type.MethodsUsing a high-throughput sequencing approach of genes encoding C1d components, we identified pathogenic variants in the novel primary ciliary dyskinesia genesCFAP46andCFAP54, and the known primary ciliary dyskinesia geneCFAP221. To fully assess this primary ciliary dyskinesia type, we also analysed individuals with pathogenic variants inCFAP74.ResultsCareful evaluation revealed that C1d-defective primary ciliary dyskinesia is associated with normal situs composition, normal nasal nitric oxide production rates, normal ciliary ultrastructure by transmission electron microscopy and normal ciliary beating by high-speed videomicroscopy analysis. Despite chronic respiratory disease, PICADAR does not reliably detect this primary ciliary dyskinesia type. However, we could show byin vitrociliary transport assays that affected individuals exhibit insufficient ciliary clearance.ConclusionsOverall, this study extends the spectrum of primary ciliary dyskinesia genes and highlights that individuals with C1d-defective primary ciliary dyskinesia elude diagnosis when using the current diagnostic algorithm. To enable diagnosis, genetic testing should be prioritised in future diagnostic guidelines.

01 Oct 2024·International Journal of Biological Macromolecules

Comprehensive analysis of single-nucleotide variants and alternative polyadenylation between inbred and outbred pigs

Article

Author: Huang, Ji ; Tu, Weilong ; Meng, Xiangge ; Tan, Yongsong ; Li, Songyu ; Wang, Hongyang ; Liu, Bang ; Zhang, Yingying ; Jiang, Zhihua ; Michal, Jennifer J ; Wu, Qingqing ; Zhou, Xiang ; Han, Yu

Inbreeding can lead to the accumulation of homozygous single nucleotide polymorphisms (SNPs) in the genome, which can significantly affect gene expression and phenotype. In this study, we examined the impact of homozygous SNPs resulting from inbreeding on alternative polyadenylation (APA) site selection and the underlying genetic mechanisms using inbred Luchuan pigs. Genome resequencing revealed that inbreeding results in a high accumulation of homozygous SNPs within the pig genome. 3' mRNA-seq on leg muscle, submandibular lymph node, and liver tissues was performed to identify differences in APA events between inbred and outbred Luchuan pigs. We revealed different tissue-specific APA usage caused by inbreeding, which were associated with different biological processes. Furthermore, we explored the role of polyadenylation signal (PAS) SNPs in APA regulation under inbreeding and identified key genes such as PUM1, SCARF1, RIPOR2, C1D, and LRRK2 that are involved in biological processes regulation. This study provides resources and sheds light on the impact of genomic homozygosity on APA regulation, offering insights into genetic characteristics and biological processes associated with inbreeding.

01 Dec 2023·Frontiers of Medicine

Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients

Article

Author: Fan, Junping ; Ge, Haijun ; Xu, Wenshuai ; Tian, Xinlun ; Zhang, Xue ; Xu, Kai-Feng ; Liu, Yaping ; Cheng, Chongsheng ; Xu, Yan ; Zhou, Wangji ; Zhao, Xinyue

Primary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder. FAP54, the homolog of CFAP54 in Chlamydomonas reinhardtii, was previously demonstrated as the C1d projection of the central microtubule apparatus of flagella. A Cfap54 knockout mouse model was then reported to have PCD-relevant phenotypes. Through whole-exome sequencing, compound heterozygous variants c.2649_2657delinC (p. E883Dfs*47) and c.7312_7313insCGCAGGCTGAATTCTTGG (p. T2438delinsTQAEFLA) in a new suspected PCD-relevant gene, CFAP54, were identified in an individual with PCD. Two missense variants, c.4112A>C (p. E1371A) and c.6559C>T (p. P2187S), in CFAP54 were detected in another unrelated patient. In this study, a minigene assay was conducted on the frameshift mutation showing a reduction in mRNA expression. In addition, a CFAP54 in-frame variant knock-in mouse model was established, which recapitulated the typical symptoms of PCD, including hydrocephalus, infertility, and mucus accumulation in nasal sinuses. Correspondingly, two missense variants were deleterious, with a dramatic reduction in mRNA abundance from bronchial tissue and sperm. The identification of PCD-causing variants of CFAP54 in two unrelated patients with PCD for the first time provides strong supportive evidence that CFAP54 is a new PCD-causing gene. This study further helps expand the disease-associated gene spectrum and improve genetic testing for PCD diagnosis in the future.

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C1D

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