CLCN2基因的调节和破坏变异与玉米蛇的皮肤颜色模式表型的改变有关

IF 10.1 1区 生物学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
Sophie A. Montandon, Pierre Beaudier, Asier Ullate-Agote, Pierre-Yves Helleboid, Maya Kummrow, Sergi Roig-Puiggros, Denis Jabaudon, Leif Andersson, Michel C. Milinkovitch, Athanasia C. Tzika
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引用次数: 0

摘要

蛇表现出各种各样的自适应颜色和颜色图案,这些颜色和图案是由色素团的空间排列产生的,但人们对这些惊人特征的机制知之甚少。在这里,我们研究了一个单位点性状,具有两个隐性等位基因,杂色和条纹,这两个等位基因都导致玉米蛇的模式畸变。我们使用测序图谱来确定因果突变所在的基因组间隔。通过我们的差异基因表达分析,我们发现CLCN2(氯电压门控通道2)是基因组区间内的一个基因,在莫特利胚胎皮肤中显着下调。此外,我们鉴定出条带等位基因为CLCN2中ltr -反转录转座子的插入,导致该蛋白的破坏性突变。我们证实了CLCN2参与了颜色图案的形成,产生了一种与条纹相似的表型的敲除蛇。在人类和小鼠中,CLCN2的破坏导致白质脑病,以及视网膜和睾丸变性。我们对蛇的单细胞转录组学分析显示,CLCN2确实在胚胎发育和成年大脑的染色质中表达,但杂色蛇和条纹蛇的行为和生育能力不受影响。我们的基因组学、转录组学和功能分析发现,一个质膜阴离子通道参与了蛇的颜色模式发育,并表明一个活跃的ltr -反转录转座子可能是玉米蛇性状多样化的关键驱动因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Regulatory and disruptive variants in the CLCN2 gene are associated with modified skin color pattern phenotypes in the corn snake
Snakes exhibit a broad variety of adaptive colors and color patterns, generated by the spatial arrangement of chromatophores, but little is known of the mechanisms responsible for these spectacular traits. Here, we investigate a mono-locus trait with two recessive alleles, motley and stripe, that both cause pattern aberrations in the corn snake. We use mapping-by-sequencing to identify the genomic interval where the causal mutations reside. With our differential gene expression analyses, we find that CLCN2 (Chloride Voltage-Gated Channel 2), a gene within the genomic interval, is significantly downregulated in Motley embryonic skin. Furthermore, we identify the stripe allele as the insertion of an LTR-retrotransposon in CLCN2, resulting in a disruptive mutation of the protein. We confirm the involvement of CLCN2 in color pattern formation by producing knock-out snakes that present a phenotype similar to Stripe. In humans and mice, disruption of CLCN2 results in leukoencephalopathy, as well as retinal and testes degeneration. Our single-cell transcriptomic analyses in snakes reveal that CLCN2 is indeed expressed in chromatophores during embryogenesis and in the adult brain, but the behavior and fertility of Motley and Stripe corn snakes are not impacted. Our genomic, transcriptomic, and functional analyses identify a plasma membrane anion channel to be involved in color pattern development in snakes and show that an active LTR-retrotransposon might be a key driver of trait diversification in corn snakes.
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来源期刊
Genome Biology
Genome Biology Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
21.00
自引率
3.30%
发文量
241
审稿时长
2 months
期刊介绍: Genome Biology stands as a premier platform for exceptional research across all domains of biology and biomedicine, explored through a genomic and post-genomic lens. With an impressive impact factor of 12.3 (2022),* the journal secures its position as the 3rd-ranked research journal in the Genetics and Heredity category and the 2nd-ranked research journal in the Biotechnology and Applied Microbiology category by Thomson Reuters. Notably, Genome Biology holds the distinction of being the highest-ranked open-access journal in this category. Our dedicated team of highly trained in-house Editors collaborates closely with our esteemed Editorial Board of international experts, ensuring the journal remains on the forefront of scientific advances and community standards. Regular engagement with researchers at conferences and institute visits underscores our commitment to staying abreast of the latest developments in the field.
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