Genome mapping of a LYST mutation in corn snakes indicates that vertebrate chromatophore vesicles are lysosome-related organelles.
Genome mapping of a LYST mutation in corn snakes indicates that vertebrate chromatophore vesicles are lysosome-related organelles.
复制标题
DOI：
10.1073/pnas.2003724117
复制
发表时间：
2020-10-20
影响因子：
11.1
通讯作者：
Tzika AC
中科院分区：
文献类型：
--
作者：
Ullate-Agote A;Burgelin I;Debry A;Langrez C;Montange F;Peraldi R;Daraspe J;Kaessmann H;Milinkovitch MC;Tzika AC
爬行动物表现出惊人的多样性的皮肤颜色之间的相互作用所产生的黑色黑色素细胞，红色和黄色的黄色素细胞，以及虹膜细胞产生的结构色。在这里，我们使用玉米蛇来研究斑马鱼模型之外的肤色生成机制。我们对玉米蛇的近染色体质量的基因组进行测序和注释，然后通过测序进行映射，并鉴定熏衣草变体中溶酶体运输调节基因（LYST）的突变，该突变强烈影响着色。进一步的分析表明，所有色素细胞的产色细胞器在LYST突变体中受到实质性影响，这表明不仅黑素体，而且黄色素体和虹彩体都是溶酶体相关的细胞器。爬行动物表现出惊人的多样性的皮肤颜色和图案之间的相互作用所带来的三种色素细胞类型：黑色黑色素细胞与黑色素包装的黑素体，红色和黄色的黄色素细胞与蝶啶和/或类胡萝卜素含有囊泡，和虹膜充满光反射血小板产生结构色。然而，黑素体，哺乳动物和鸟类中唯一产生颜色的内体，已被证明是溶酶体相关的细胞器，黄质体和虹彩体的成熟途径是未知的。在这里，我们首先使用10 x基因组学链接读取和光学映射来组装和注释玉米蛇Pantherophis guttatus的近染色体质量的基因组。该组件的长度为1.71 Gb，N50为16.8 Mb，L50为24。其次，我们进行测序分析，并确定了3.9 Mb的基因组间隔，熏衣草变异居住。玉米蛇的淡紫色变体的特征是在粉红色而不是橙子背景上的灰色而不是红色斑点。第三，我们的测序分析揭示了一个单核苷酸多态性，在溶酶体运输调节基因（LYST）中引入了一个提前终止密码子，缩短了603个氨基酸的相应蛋白质，并删除了进化保守的结构域。第四，我们使用光和透射电子显微镜的野生型与熏衣草玉米蛇的比较分析，并表明，所有的色素细胞的颜色产生的内体在LYST突变体的影响很大。我们的工作提供了证据特征的xanthophores和iridophores作为溶酶体相关的细胞器中的黄小体和iridosomes。
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.
登录
查看更多内容
影响因子：
56.9
作者：
BAGNARA, JT;MATSUMOTO, J;TAYLOR, JD
通讯作者：
TAYLOR, JD
影响因子：
9.2
作者：
Cao H;Hastie AR;Cao D;Lam ET;Sun Y;Huang H;Liu X;Lin L;Andrews W;Chan S;Huang S;Tong X;Requa M;Anantharaman T;Krogh A;Yang H;Cao H;Xu X
通讯作者：
Xu X
影响因子：
3.5
作者：
Barbosa, MDFS;Barrat, FJ;Kingsmore, SF
通讯作者：
Kingsmore, SF
影响因子：
2.8
作者：
Hargreaves, Adam D.;Swain, Martin T.;Mulley, John F.
通讯作者：
Mulley, John F.
影响因子：
12.3
作者：
Haas, Brian J.;Salzberg, Steven L.;Zhu, Wei;Pertea, Mihaela;Allen, Jonathan E.;Orvis, Joshua;White, Owen;Buell, C. Robin;Wortman, Jennifer R.
通讯作者：
Wortman, Jennifer R.