The novel zebrafish model <i>pretzel</i> demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome

Vos, Ivo J. H. M. de; Wong, Arnette Shi Wei; Taslim, Jason; Ong, Sheena L. M.; Syder, Nicole; Goggi, Julian; Carney, Thomas J.; Steensel, M.A.M. van

doi:10.1242/bio.054270

Cited by 3 publications

(1 citation statement)

References 40 publications

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“…Several zebrafish mutant models of congenital syndromes recapitulate pronounced curvatures of the thoracic spine [24][25][26] . Thus, we investigated whether the phenotype of adult pkd2l1 icm02/icm02 mutants could arise from vertebral malformations.…”

Section: Resultsmentioning

confidence: 99%

Loss of CSF-contacting neuron sensory function is associated with a hyper-kyphosis of the spine reminiscent of Scheuermann’s disease

Marie-Hardy

Lotfi

Messa

et al. 2023

Sci Rep

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Scheuermann’s disease, also referred to as Scheuermann’s kyphosis, is the second most frequent spine deformity occurring in humans after adolescent idiopathic scoliosis (AIS), both with an unclear etiology. Recent genetic studies in zebrafish unraveled new mechanisms linked to AIS, highlighting the role of the Reissner fiber, an acellular polymer bathing in the cerebrospinal fluid (CSF) in close proximity with ciliated cells and mechanosensory neurons lining the central canal of the spinal cord (CSF-cNs). However, while the Reissner fiber and ciliary beating have been linked to AIS-like phenotypes in zebrafish, the relevance of the sensory functions of CSF-cNs for human spine disorders remains unknown. Here, we show that the thoracic hyper-kyphosis of the spine previously reported in adult pkd2l1 mutant zebrafish, in which the mechanosensory function of CSF-cNs is likely defective, is restricted to the sagittal plane and is not associated with vertebral malformations. By applying orthopedic criteria to analyze the amplitude of the curvature at the apex of the kyphosis, the curve pattern, the sagittal balance and sex bias, we demonstrate that pkd2l1 knock-outs develop a phenotype reminiscent of Scheuermann’s disease. Altogether our work consolidates the benefit of combining genetics and analysis of spine deformities in zebrafish to model idiopathic spine disorders in humans.

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Section: Resultsmentioning

confidence: 99%

Loss of CSF-contacting neuron sensory function is associated with a hyper-kyphosis of the spine reminiscent of Scheuermann’s disease

Marie-Hardy

Lotfi

Messa

et al. 2023

Sci Rep

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First person – Ivo de Vos

Vos

2020

Biology Open

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First Person is a series of interviews with the first authors of a selection of papers published in Biology Open, helping early-career researchers promote themselves alongside their papers. Ivo de Vos is first author on ‘The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome’, published in BiO. Ivo conducted the research described in this article while a Research Fellow in Professor Maurice van Steensel's lab at the Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR), Singapore. He is now a Postgraduate House Officer in Clinical Genetics, currently working in patient care in the Department of Genetics, at the University Medical Center Groningen (UMCG), The Netherlands, investigating pathophysiological mechanisms underlying common skin conditions by studying rare genetic skin disorders, ultimately improving patient care.

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A Comprehensive Review of Indel Detection Methods for Identification of Zebrafish Knockout Mutants Generated by Genome-Editing Nucleases

Carrington

Bishop

Sood

2022

Genes

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The use of zebrafish in functional genomics and disease modeling has become popular due to the ease of targeted mutagenesis with genome editing nucleases, i.e., zinc finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), and clustered regularly interspaced short palindromic repeats/Cas9 (CRISPR/Cas9). These nucleases, specifically CRISPR/Cas9, are routinely used to generate gene knockout mutants by causing a double stranded break at the desired site in the target gene and selecting for frameshift insertions or deletions (indels) caused by the errors during the repair process. Thus, a variety of methods have been developed to identify fish with indels during the process of mutant generation and phenotypic analysis. These methods range from PCR and gel-based low-throughput methods to high-throughput methods requiring specific reagents and/or equipment. Here, we provide a comprehensive review of currently used indel detection methods in zebrafish. By discussing the molecular basis for each method as well as their pros and cons, we hope that this review will serve as a comprehensive resource for zebrafish researchers, allowing them to choose the most appropriate method depending upon their budget, access to required equipment and the throughput needs of the projects.

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The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome

Cited by 3 publications

References 40 publications

Loss of CSF-contacting neuron sensory function is associated with a hyper-kyphosis of the spine reminiscent of Scheuermann’s disease

Loss of CSF-contacting neuron sensory function is associated with a hyper-kyphosis of the spine reminiscent of Scheuermann’s disease

First person – Ivo de Vos

A Comprehensive Review of Indel Detection Methods for Identification of Zebrafish Knockout Mutants Generated by Genome-Editing Nucleases

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