Genome mapping of a LYST mutation in corn snakes indicates that vertebrate chromatophore vesicles are lysosome-related organelles
| Autor: | Asier Ullate-Agote, Henrik Kaessmann, Rodrigue Peraldi, Athanasia C. Tzika, Adrien Debry, Michel C. Milinkovitch, Carine Langrez, Ingrid Burgelin, Florent Montange, Jean Daraspe |
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| Rok vydání: | 2020 |
| Předmět: |
LYST
Mutant Melanophores Vesicular Transport Proteins Color Skin Pigmentation Biology Genome 03 medical and health sciences 0302 clinical medicine Gene mapping Organelle Lysosomal trafficking regulator Genetics Animals pigmentation Gene Skin 030304 developmental biology Melanosome Melanins 0303 health sciences Melanosomes Multidisciplinary chromatophores corn snake lysosome-related organelles Colubridae Chromosome Mapping Snakes Biological Sciences Biological Evolution Chromatophore Cell biology Mutation Vertebrates Lysosomes 030217 neurology & neurosurgery |
| Zdroj: | Proceedings of the National Academy of Sciences of the United States of America, vol. 117, no. 42, pp. 26307-26317 Proceedings of the National Academy of Sciences of the United States of America |
| ISSN: | 1091-6490 0027-8424 |
| Popis: | Significance Reptiles exhibit a spectacular diversity of skin colors generated by interactions among black melanophores, red and yellow xanthophores, as well as iridophores producing structural colors. Here, we use the corn snake to investigate the generative mechanisms of skin colors beyond the zebrafish model. We perform sequencing and annotation of a nearly chromosome-quality genome of the corn snake, followed by mapping-by-sequencing and identification of a mutation in the lysosomal trafficking regulator gene (LYST) in the lavender variant with strongly affected coloration. Further analyses indicate that color-producing organelles of all chromatophores are substantially impacted in the LYST mutant, indicating that not only melanosomes, but also xanthosomes and iridosomes, are all lysosome-related organelles. Reptiles exhibit a spectacular diversity of skin colors and patterns brought about by the interactions among three chromatophore types: black melanophores with melanin-packed melanosomes, red and yellow xanthophores with pteridine- and/or carotenoid-containing vesicles, and iridophores filled with light-reflecting platelets generating structural colors. Whereas the melanosome, the only color-producing endosome in mammals and birds, has been documented as a lysosome-related organelle, the maturation paths of xanthosomes and iridosomes are unknown. Here, we first use 10x Genomics linked-reads and optical mapping to assemble and annotate a nearly chromosome-quality genome of the corn snake Pantherophis guttatus. The assembly is 1.71 Gb long, with an N50 of 16.8 Mb and L50 of 24. Second, we perform mapping-by-sequencing analyses and identify a 3.9-Mb genomic interval where the lavender variant resides. The lavender color morph in corn snakes is characterized by gray, rather than red, blotches on a pink, instead of orange, background. Third, our sequencing analyses reveal a single nucleotide polymorphism introducing a premature stop codon in the lysosomal trafficking regulator gene (LYST) that shortens the corresponding protein by 603 amino acids and removes evolutionary-conserved domains. Fourth, we use light and transmission electron microscopy comparative analyses of wild type versus lavender corn snakes and show that the color-producing endosomes of all chromatophores are substantially affected in the LYST mutant. Our work provides evidence characterizing xanthosomes in xanthophores and iridosomes in iridophores as lysosome-related organelles. |
| Databáze: | OpenAIRE |
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