Genome mapping of a LYST mutation in corn snakes indicates that vertebrate chromatophore vesicles are lysosome-related organelles

• Verfasst von: Ullate-Agote, Asier [VerfasserIn]
• Verfasst von: Burgelin, Ingrid [VerfasserIn]
• Verfasst von: Debry, Adrien [VerfasserIn]
• Verfasst von: Langrez, Carine [VerfasserIn]
• Verfasst von: Montange, Florent [VerfasserIn]
• Verfasst von: Peraldi, Rodrigue [VerfasserIn]
• Verfasst von: Daraspe, Jean [VerfasserIn]
• Verfasst von: Kaessmann, Henrik [VerfasserIn]
• Verfasst von: Milinkovitch, Michel C. [VerfasserIn]
• Verfasst von: Tzika, Athanasia C. [VerfasserIn]
• Titel: Genome mapping of a LYST mutation in corn snakes indicates that vertebrate chromatophore vesicles are lysosome-related organelles
• Verf.angabe: Asier Ullate-Agote, Ingrid Burgelin, Adrien Debry, Carine Langrez, Florent Montange, Rodrigue Peraldi, Jean Daraspe, Henrik Kaessmann, Michel C. Milinkovitch, and Athanasia C. Tzika
• E-Jahr: 2020
• Jahr: October 5, 2020
• Umfang: 11 S.
• Fussnoten: Gesehen am 01.12.2020
• Titel Quelle: Enthalten in: National Academy of Sciences (Washington, DC)Proceedings of the National Academy of Sciences of the United States of America
• Ort Quelle: Washington, DC : National Acad. of Sciences, 1915
• Jahr Quelle: 2020
• Band/Heft Quelle: 117(2020), 42, Seite 26307-26317
• ISSN Quelle: 1091-6490
• DOI: doi:10.1073/pnas.2003724117
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: chromatophores
• Sach-SW: corn snake
• Sach-SW: lysosome-related organelles
• Sach-SW: LYST
• Sach-SW: pigmentation
• K10plus-PPN: 174154808X

Abstract

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.