PUBLICATION

Male germ cell-associated kinase (MAK) is required for axoneme formation during ciliogenesis in zebrafish photoreceptors

Authors
Chiang, H.J., Nishiwaki, Y., Chiang, W.C., Masai, I.
ID
ZDB-PUB-240530-15
Date
2024
Source
Disease models & mechanisms   17(7): (Journal)
Registered Authors
Chiang, Hung-Ju, Chiang, Wei-Chieh, Masai, Ichiro, Nishiwaki, Yuko
Keywords
Ciliogenesis, Ciliopathy, MAK, Photoreceptor degeneration, Zebrafish
MeSH Terms
  • Mutation*/genetics
  • Apoptosis
  • Zebrafish*/embryology
  • Basal Bodies/metabolism
  • Serine-Threonine Kinase 3
  • Cell Survival
  • Zebrafish Proteins*/genetics
  • Zebrafish Proteins*/metabolism
  • Axoneme*/metabolism
  • Photoreceptor Cells, Vertebrate/metabolism
  • Animals
  • Cilia*/metabolism
  • Male
  • Protein Serine-Threonine Kinases*/metabolism
  • Retinal Rod Photoreceptor Cells/metabolism
(all 15)
PubMed
38813692 Full text @ Dis. Model. Mech.
Abstract
Vertebrate photoreceptors are highly specialized retinal neurons that have cilium-derived membrane organelles called outer segments (OS), which function as platforms for phototransduction. Male germ cell-associated kinase (MAK) is a cilium-associated serine/threonine kinase, and its genetic mutation causes photoreceptor degeneration in mice and retinitis pigmentosa in humans. However, the role of MAK in photoreceptors is not fully understood. Here, we report that zebrafish mak mutants show rapid photoreceptor degeneration during embryonic development. In mak mutants, both cone and rod photoreceptors completely lack OSs and undergo apoptosis. Interestingly, zebrafish mak mutants fail to generate axonemes during photoreceptor ciliogenesis, whereas basal bodies are specified. These data suggest that MAK contributes to axoneme development in zebrafish, in contrast to mouse Mak mutants, which have elongated photoreceptor axonemes. Furthermore, the kinase activity of MAK is critical in ciliary axoneme development and photoreceptor survival. Thus, MAK is required for ciliogenesis and OS formation in zebrafish photoreceptors to ensure intracellular protein transport and photoreceptor survival.
Genes / Markers
Figures
Figure Gallery (8 images)
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Expression
Phenotype
Mutations / Transgenics
Allele Construct Type Affected Genomic Region
oki029TgTransgenic Insertion
    oki072TgTransgenic Insertion
      oki073TgTransgenic Insertion
        oki074TgTransgenic Insertion
          oki075TgTransgenic Insertion
            oki076TgTransgenic Insertion
              oki077TgTransgenic Insertion
                oki078TgTransgenic Insertion
                  s351
                    Unknown
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                    Human Disease / Model
                    No data available
                    Sequence Targeting Reagents
                    No data available
                    Fish
                    Antibodies
                    Orthology
                    No data available
                    Engineered Foreign Genes
                    Marker Marker Type Name
                    EGFPEFGEGFP
                    mCherryEFGmCherry
                    TomatoEFGTomato
                    1 - 3 of 3
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                    Mapping
                    No data available