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玉米锦蛇(Pantherophis guttatus)的基因组序列,这是有鳞目动物进化发育生物学研究的宝贵资源。

The genome sequence of the corn snake (Pantherophis guttatus), a valuable resource for EvoDevo studies in squamates.

作者信息

Ullate-Agote Asier, Milinkovitch Michel C, Tzika Athanasia C

机构信息

Laboratory of Artificial and Natural Evolution (LANE), Dept. of Genetics and Evolution, University of Geneva, Geneva, Switzerland.

出版信息

Int J Dev Biol. 2014;58(10-12):881-8. doi: 10.1387/ijdb.150060at.

Abstract

Squamates (snakes and lizards) exhibit a striking variety of phenotypes, with little known on their generative mechanisms. Studies aiming to understand the genetic basis of this wide diversity in morphology, physiology and ecology will greatly benefit from whole genome sequencing initiatives, as they provide the foundation for comparative analyses and improve our understanding of the evolution, development and diversification of traits. Here, we present the first draft genome of the corn snake Pantherophis guttatus, an oviparous snake that we promote as a particularly appropriate model species for evolutionary developmental studies in squamates. We sequenced 100-base paired-end reads from multiple individuals of a single family (parents and offspring) that produced a genome assembly of 1.53 gigabases (Gb), roughly covering 75% of the expected total genome size, and 297,768 scaffolds >1 Kb. We were able to fully retrieve 86, and partially another 106, of the 248 CEGMA core genes, indicating that a high genome completeness was achieved, even though the assembly is fragmented. Using MAKER2, we annotated 10,917 genes with high confidence (Annotation Edit Distance (AED)<1) and an additional 5,263 predicted genes matched with the species' transcriptome. Numerous colour and colour pattern morphs exist in P. guttatus, making it an ideal model to study the genetic determinism, development, and evolution of adaptive colour traits in reptiles. Using our draft genome and a Single-Nucleotide Polymorphism (SNP) calling approach, we confirmed the interval with the causative mutation for the amelanistic phenotype, a result supported by a parallel exome-based study.

摘要

有鳞目动物(蛇和蜥蜴)展现出了惊人的多样表型,但其生成机制却鲜为人知。旨在了解这种在形态学、生理学和生态学上广泛多样性的遗传基础的研究,将极大地受益于全基因组测序计划,因为这些计划为比较分析提供了基础,并增进了我们对性状的进化、发育和多样化的理解。在此,我们展示了玉米锦蛇(Pantherophis guttatus)的首个基因组草图,这是一种卵生蛇类,我们认为它是有鳞目动物进化发育研究中特别合适的模式物种。我们对来自一个单一家族(父母和后代)的多个个体进行了100碱基对末端配对测序,生成了一个1.53千兆碱基(Gb)的基因组组装,大致覆盖预期全基因组大小的75%,以及297,768个长度大于1千碱基的支架。我们能够完整找回248个CEGMA核心基因中的86个,另外部分找回106个,这表明即使组装是碎片化的,也实现了较高的基因组完整性。使用MAKER2,我们高置信度注释了10,917个基因(注释编辑距离(AED)<1),另外还有5,263个预测基因与该物种的转录组匹配。玉米锦蛇存在众多颜色和颜色图案变体,使其成为研究爬行动物适应性颜色性状的遗传决定性、发育和进化的理想模型。利用我们的基因组草图和单核苷酸多态性(SNP)检测方法,我们确认了无黑色素表型致病突变所在区间,这一结果得到了一项基于外显子组的平行研究的支持。

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