ArticleScientific reports2015
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 38 citations in OpenAlex.
- In situ structure of the human ciliary transition zone links linker defects to primary ciliary dyskinesia.Science (New York, N.Y.) · 2026Article
- TCTEX1D2 is essential for sperm flagellum formation in mice.Scientific reports · 2025Article
- Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.Journal of cell science · 2023Article
- A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report.Clinical case reports · 2022Article
- Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.Molecular neurobiology · 2022Article
- Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects.Scientific reports · 2022Article
- Few Fixed Variants between Trophic Specialist Pupfish Species Reveal Candidate Cis-Regulatory Alleles Underlying Rapid Craniofacial Divergence.Molecular biology and evolution · 2021Article
- Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.Molecular genetics & genomic medicine · 2020Article
- WDR34 Activates Wnt/Beta-Catenin Signaling in Hepatocellular Carcinoma.Digestive diseases and sciences · 2019Article
- Dynein tails: how to hitch a ride on an IFT train.Nature structural & molecular biology · 2019Article
- Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function.eLife · 2018Article
- Auto-fatty acylation of transcription factor RFX3 regulates ciliogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.European journal of human genetics : EJHG · 2018Article
- Dynarrestin, a Novel Inhibitor of Cytoplasmic Dynein.Cell chemical biology · 2018Article
- Missense mutations in the WD40 domain ofJournal of medical genetics · 2017Article
- Primary Cilia and Mammalian Hedgehog Signaling.Cold Spring Harbor perspectives in biology · 2017Review
- Microtubule Motors Drive Hedgehog Signaling in Primary Cilia.Trends in cell biology · 2017Review
- The role of the dynein light intermediate chain in retrograde IFT and flagellar function in Chlamydomonas.Molecular biology of the cell · 2016Article
- Specialized Cilia in Mammalian Sensory Systems.Cells · 2015Review
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Authors and funding
15 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Skeletal ciliopathies are a heterogeneous group of autosomal recessive osteochondrodysplasias caused by defects in formation, maintenance and function of the primary cilium. Mutations in the underlying genes affect the molecular motors, intraflagellar transport complexes (IFT), or the basal body. The more severe phenotypes are caused by defects of genes of the dynein-2 complex, where mutations in DYNC2H1, WDR34 and WDR60 have been identified. In a patient with a Jeune-like phenotype we performed exome sequencing and identified compound heterozygous missense and nonsense mutations in DYNC2LI1 segregating with the phenotype. DYNC2LI1 is ubiquitously expressed and interacts with DYNC2H1 to form the dynein-2 complex important for retrograde IFT. Using DYNC2LI1 siRNA knockdown in fibroblasts we identified a significantly reduced cilia length proposed to affect cilia function. In addition, depletion of DYNC2LI1 induced altered cilia morphology with broadened ciliary tips and accumulation of IFT-B complex proteins in accordance with retrograde IFT defects. Our results expand the clinical spectrum of ciliopathies caused by defects of the dynein-2 complex.
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