ArticlePLoS genetics2018
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 67 citations in OpenAlex.
- Discovery and engineering of retrons for precise genome editing.Nature biotechnology · 2026Article
- A novel compound heterozygous variant in DNAH2: preliminary evidence of a potential genetic modifier for persistent cloaca in a Chinese family.Pediatric surgery international · 2026Article
- Exploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.Journal of molecular neuroscience : MN · 2025Review
- Ge-SAND: an explainable deep learning-driven framework for disease risk prediction by uncovering complex genetic interactions in parallel.BMC genomics · 2025Article
- Distinct roles of Kif6 and Kif9 in mammalian ciliary trafficking and motility.The Journal of cell biology · 2024Article
- Review
- Two Tetrahymena kinesin-9 family members exhibit slow plus-end-directed motility in vitro.Scientific reports · 2024Article
- Involvement of kinesins in skeletal dysplasia: a review.American journal of physiology. Cell physiology · 2024Review
- Motor protein Kif6 regulates cilia motility and polarity in brain ependymal cells.Disease models & mechanisms · 2024Article
- Association of genetic variation ineLife · 2024Article
- Regulation of ciliary homeostasis by intraflagellar transport-independent kinesins.Cell death & disease · 2024Review
- Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.Nature communications · 2023Review
- Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.Human genomics · 2023Article
- Resolving primary pathomechanisms driving idiopathic-like spinal curvature using a newiScience · 2022Article
- Genetic animal modeling for idiopathic scoliosis research: history and considerations.Spine deformity · 2022Review
- The axonemal dynein heavy chain 10 gene is essential for monocilia motility and spine alignment in zebrafish.Developmental biology · 2022Article
- Kinesins in Mammalian Spermatogenesis and Germ Cell Transport.Frontiers in cell and developmental biology · 2022Review
- Diversity and function of motile ciliated cell types within ependymal lineages of the zebrafish brain.Cell reports · 2021Article
- Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways.Journal of medical genetics · 2021Article
- Article
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
Abstract
Cerebrospinal fluid flow is crucial for neurodevelopment and homeostasis of the ventricular system of the brain, with localized flow being established by the polarized beating of the ependymal cell (EC) cilia. Here, we report a homozygous one base-pair deletion, c.1193delT (p.Leu398Glnfs*2), in the Kinesin Family Member 6 (KIF6) gene in a child displaying neurodevelopmental defects and intellectual disability. To test the pathogenicity of this novel human KIF6 mutation we engineered an analogous C-terminal truncating mutation in mouse. These mutant mice display severe, postnatal-onset hydrocephalus. We generated a Kif6-LacZ transgenic mouse strain and report expression specifically and uniquely within the ependymal cells (ECs) of the brain, without labeling other multiciliated mouse tissues. Analysis of Kif6 mutant mice with scanning electron microscopy (SEM) and immunofluorescence (IF) revealed specific defects in the formation of EC cilia, without obvious effect of cilia of other multiciliated tissues. Dilation of the ventricular system and defects in the formation of EC cilia were also observed in adult kif6 mutant zebrafish. Finally, we report Kif6-GFP localization at the axoneme and basal bodies of multi-ciliated cells (MCCs) of the mucociliary Xenopus epidermis. Overall, this work describes the first clinically-defined KIF6 homozygous null mutation in human and defines KIF6 as a conserved mediator of neurological development with a specific role for EC ciliogenesis in vertebrates.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.