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Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster


Autoři: Yiwen Wang aff001;  Michaela Norum aff001;  Kathrin Oehl aff001;  Yang Yang aff001;  Renata Zuber aff001;  Jing Yang aff001;  Jean-Pierre Farine aff004;  Nicole Gehring aff001;  Matthias Flötenmeyer aff005;  Jean-François Ferveur aff004;  Bernard Moussian aff001
Působiště autorů: Section Animal Genetics, Interfaculty Institute of Cell Biology, University of Tübingen, Tübingen, Germany aff001;  School of Pharmaceutical Science and Technology, Tianjin University, Tianjin, China aff002;  Applied Zoology, Technical University of Dresden, Dresden, Germany aff003;  Centre des Sciences du Goût et de l'Alimentation, UMR-CNRS 6265, Université de Bourgogne, Dijon, France aff004;  Microscopy Unit, Max-Planck-Institut für Entwicklungsbiologie, Tübingen, Germany aff005;  Institute of Biology Valrose, CNRS, Inserm, Université Côte d’Azur, Nice, France aff006
Vyšlo v časopise: Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster. PLoS Genet 16(1): e32767. doi:10.1371/journal.pgen.1008363
Kategorie: Research Article
doi: https://doi.org/10.1371/journal.pgen.1008363

Souhrn

Prevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major role in protection against exaggerated water loss. Here, we report that the ABC transporter Oskyddad (Osy)—a human ABCA12 paralog—contributes to the waterproof barrier function of the cuticle in the fruit fly Drosophila melanogaster. We show that the reduction or elimination of Osy function provokes rapid desiccation. Osy is also involved in defining the inward barrier against xenobiotics penetration. Consistently, the amounts of cuticular hydrocarbons that are involved in cuticle impermeability decrease markedly when Osy activity is reduced. GFP-tagged Osy localises to membrane nano-protrusions within the cuticle, likely pore canals. This suggests that Osy is mediating the transport of cuticular hydrocarbons (CHC) through the pore canals to the cuticle surface. The envelope, which is the outermost cuticle layer constituting the main barrier, is unaffected in osy mutant larvae. This contrasts with the function of Snu, another ABC transporter needed for the construction of the cuticular inward and outward barriers, that nevertheless is implicated in CHC deposition. Hence, Osy and Snu have overlapping and independent roles to establish cuticular resistance against transpiration and xenobiotic penetration. The osy deficient phenotype parallels the phenotype of Harlequin ichthyosis caused by mutations in the human abca12 gene. Thus, it seems that the cellular and molecular mechanisms of lipid barrier assembly in the skin are conserved during evolution.

Klíčová slova:

Animal wings – Cell membranes – Drosophila melanogaster – Embryos – Epidermis – Insects – Larvae – Lipids


Zdroje

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