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

Wang, Y., Norum, M., Oehl, K., Yang, Y., Zuber, R., Yang, J., et al. (2020). Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster. PLoS Genetics, 16(1): e1008363. doi:10.1371/journal.pgen.1008363.

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Wang, Y, Autor
Norum, M, Autor
Oehl, K, Autor
Yang, Y, Autor
Zuber, R, Autor
Yang, J, Autor
Farine, J-P, Autor
Gehring, N, Autor
Flötenmeyer, M1, Autor           
Ferveur, J-F, Autor
Moussian, B, Autor           
Affiliations:
1Electron Microscopy, Max Planck Institute for Developmental Biology, Max Planck Society, ou_3375794              

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 Zusammenfassung: 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.

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 Datum: 2020-01
 Publikationsstatus: Online veröffentlicht
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 Identifikatoren: DOI: 10.1371/journal.pgen.1008363
PMID: 31929524
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Titel: PLoS Genetics
  Andere : PLoS Genet.
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: San Francisco, CA : Public Library of Science
Seiten: 17 Band / Heft: 16 (1) Artikelnummer: e1008363 Start- / Endseite: - Identifikator: ISSN: 1553-7390
CoNE: https://pure.mpg.de/cone/journals/resource/1000000000017180