Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease

Skalická, Katarína; Hrčková, Gabriela; Vaska, Annija; Baranyaiová, Ágnes; Kovács, László

doi:10.5527/wjn.v7.i2.65

Cited by 9 publications

(3 citation statements)

References 27 publications

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“…KIF19 is a member of the kinesin-8 subclass and is associated with ciliary vascular motility and vascular depolymerization [29]. Deficiency of KIF19 is associated with hydrocephalus, female infertility and autosomal dominant polycystic kidney disease [29,30].…”

Section: Discussionmentioning

confidence: 99%

Analysis of novel prognostic markers of oral squamous cell carcinoma at the transcriptome-wide level

Li¹,

Liu²,

Jieming³

et al. 2022

ScienceAsia

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Patients with oral squamous cell carcinoma (OSCC) have a poor prognosis. The molecular mechanism of OSCC progression remains unclear. The aim of this study was to explore specific prognostic biomarkers of OSCC at the transcriptome-wide level. A total of 158 differentially expressed long non-coding RNAs (lncRNAs), including 85 cis-acting and 10 trans-acting differentially expressed lncRNAs, were screened in OSCC tissues compared with adjacent normal tissues. Both cisand trans-target genes of differentially expressed lncRNAs were enriched in pathways associated with cancer progression. Additionally, 25 differentially expressed mRNAs were screened. Overlapping analysis of differential protein-coding genes with the cisand trans-target genes of differentially expressed lncRNAs indicated that KIF19 was the only trans-acting gene of differentially expressed lncRNA 'ENST00000626052' (named ENSTa). ENSTa was down-regulated in OSCC tissues and cells, and its low expression corresponded to a poor prognosis in OSCC. KIF19 was highly expressed in OSCC tissues and cells. Patients with high expression of KIF19 had a poor prognosis. Cellular experiments showed that KIF19 expression and cell proliferation were inhibited in cells overexpressing ENSTa. However, KIF19 overexpression counteracted the effect of ENSTa overexpression on cell proliferation. In conclusion, ENSTa regulated the trans-acting KIF19 gene in the inhibition of the progression of OSCC, thus they could be suggested as novel biomarkers for OSCC.

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Section: Discussionmentioning

confidence: 99%

Analysis of novel prognostic markers of oral squamous cell carcinoma at the transcriptome-wide level

Li¹,

Liu²,

Jieming³

et al. 2022

ScienceAsia

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“…Depletion of ALMS1 can lead to significantly longer and bent cilia and reduce the activity of SMAD2/3 induced by TGF‐β1 (Alvarez‐Satta et al., 2021). In addition, it has been reported that genetic defects in ciliary genes, which are essential to ciliogenesis and include kinesin family member 19 (KIF19), are found in human ADPKD tissues and that cilia are elongated in kidney tissues from ADPKD patients (Skalická et al., 2018, Shao et al., 2020). Knockdown of the ADPKD‐related Pkd1 or Pkd2 gene encoding PC1 or PC2 can cause activation of β‐catenin in the Wnt signaling pathway (Shao et al., 2020).…”

Section: Conclusion and Perspectivementioning

confidence: 99%

Functions of actin‐binding proteins in cilia structure remodeling and signaling

Wang

Pan

et al. 2023

Biology of the Cell

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Cilia are microtubule‐based organelles found on the surfaces of many types of cells, including cardiac fibroblasts, vascular endothelial cells, human retinal pigmented epithelial‐1 (RPE‐1) cells and alveolar epithelial cells. These organelles can be classified as immotile cilia, referred to as primary cilia in mammalian cells, and motile cilia. Primary cilia are cellular sensors that detect extracellular signals; this is a critical function associated with ciliopathies, which are characterized by the typical clinical features of developmental disorders. Cilia are extensively studied organelles of the microtubule cytoskeleton. However, the ciliary actin cytoskeleton has rarely been studied. Clear evidence has shown that highly regulated actin cytoskeleton dynamics contribute to normal ciliary function. Actin‐binding proteins (ABPs) play vital roles in filamentous actin (F‐actin) morphology. Here, we discuss recent progress in understanding the roles of ABPs in ciliary structural remodeling and further downstream ciliary signalling with a focus on the molecular mechanisms underlying actin cytoskeleton‐related ciliopathies.This article is protected by copyright. All rights reserved

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“…An important study assessed allelic variants in 191 structural and functional genes of the primary cilium in tissue samples from 7 PKD patients. (Skalická et al 2018) This was a significantly more high-throughput experiment compared to early studies that found one or two genes associated with familial PKD. Illumina sequencing revealed pathogenic variants in 39 genes encoding various structural components of the primary cilium.…”

Section: Targeted Next-generation Sequencingmentioning

confidence: 99%

Cilia Disorders in the Genomics Era: Historical Overview and Commentary on Ciliopathy Diagnostics

Eskinazi

2023

SoS

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Introduction: Motile and sensory (primary) cilia are organelles that are found on the surface of almost all cells. Defects in cilia cause a number of multi-organ diseases known as ciliopathies, which have clinically heterogeneous symptoms. This heterogeneity makes diagnosing cilia disorders challenging and clinicians often rely on genetic sequencing to delineate ciliopathies from other diseases. However, there is not a consensus on which sequencing tools are most optimal for ciliopathy diagnosis and research. Methods: Here I review the implications of next-generation sequencing tools for ciliopathy diagnostics. I describe landmark studies that showed ciliopathies as genetic conditions and transition to the advantages and challenges of using next-generation sequencing techniques. In particular, I compare studies that utilized targeted sequencing with those that used whole-exome and/or whole-genome sequencing. Discussion: High throughput screens can identify novel cilia genes and show promise as a robust diagnostic tool in clinical settings. Moreover, I compare the effectiveness of whole-exome and whole-genome sequencing both for basic science research and clinical applications, arguing that whole-exome sequencing is a sufficient first pass in clinical settings. I also acknowledge that ciliopathies are associated with many, both significant and insignificant, genetic variants making interpreting next-generation sequencing data an ongoing challenge for scientists and clinicians. Conclusion: This review demonstrates the increasing body of knowledge on cilia genomics and highlights that next-generation sequencing will be integral towards optimizing diagnostics for these heterogeneous and debilitating group of disorders.

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Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease

Cited by 9 publications

References 27 publications

Analysis of novel prognostic markers of oral squamous cell carcinoma at the transcriptome-wide level

Analysis of novel prognostic markers of oral squamous cell carcinoma at the transcriptome-wide level

Functions of actin‐binding proteins in cilia structure remodeling and signaling

Cilia Disorders in the Genomics Era: Historical Overview and Commentary on Ciliopathy Diagnostics

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