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通过整合宏和微同线性方法描绘的全进化和调控基因组结构。

Pan-evolutionary and regulatory genome architecture delineated by an integrated macro- and microsynteny approach.

机构信息

Fang Zongxi Center for Marine Evo-Devo & MOE Key Laboratory of Marine Genetics and Breeding, College of Marine Life Sciences, Ocean University of China, Qingdao, China.

Laboratory for Marine Biology and Biotechnology, Laoshan Laboratory, Qingdao, China.

出版信息

Nat Protoc. 2024 Jun;19(6):1623-1678. doi: 10.1038/s41596-024-00966-4. Epub 2024 Mar 21.

Abstract

The forthcoming massive genome data generated by the Earth BioGenome Project will open up a new era of comparative genomics, for which genome synteny analysis provides an important framework. Profiling genome synteny represents an essential step in elucidating genome architecture, regulatory blocks/elements and their evolutionary history. Here we describe PanSyn, ( https://github.com/yhw320/PanSyn ), the most comprehensive and up-to-date genome synteny pipeline, providing step-by-step instructions and application examples to demonstrate its usage. PanSyn inherits both basic and advanced functions from existing popular tools, offering a user-friendly, highly customized approach for genome macrosynteny analysis and integrated pan-evolutionary and regulatory analysis of genome architecture, which are not yet available in public synteny software or tools. The advantages of PanSyn include: (i) advanced microsynteny analysis by functional profiling of microsynteny genes and associated regulatory elements; (ii) comprehensive macrosynteny analysis, including the inference of karyotype evolution from ancestors to extant species; and (iii) functional integration of microsynteny and macrosynteny for pan-evolutionary profiling of genome architecture and regulatory blocks, as well as integration with external functional genomics datasets from three- or four-dimensional genome and ENCODE projects. PanSyn requires basic knowledge of the Linux environment and Perl programming language and the ability to access a computer cluster, especially for large-scale genomic comparisons. Our protocol can be easily implemented by a competent graduate student or postdoc and takes several days to weeks to execute for dozens to hundreds of genomes. PanSyn provides yet the most comprehensive and powerful tool for integrated evolutionary and functional genomics.

摘要

即将由地球生物基因组计划产生的大量基因组数据将开创比较基因组学的新时代,而基因组同线性分析为其提供了重要的框架。基因组同线性分析是阐明基因组结构、调控模块/元件及其进化历史的重要步骤。在这里,我们描述了 PanSyn(https://github.com/yhw320/PanSyn),这是最全面和最新的基因组同线性分析流水线,提供了逐步的说明和应用示例,以展示其用法。PanSyn 继承了现有流行工具的基本和高级功能,为基因组宏观同线性分析以及基因组结构的泛进化和调控分析提供了一种用户友好、高度定制的方法,而这些在公共同线性软件或工具中尚不可用。PanSyn 的优势包括:(i)通过对微同线性基因和相关调控元件进行功能分析,进行高级微同线性分析;(ii)全面的宏观同线性分析,包括从祖先到现存物种的染色体进化推断;(iii)微同线性和宏观同线性的功能整合,用于基因组结构和调控模块的泛进化分析,以及与三维或四维基因组和 ENCODE 项目的外部功能基因组数据集的整合。PanSyn 需要对 Linux 环境和 Perl 编程语言有基本的了解,并能够访问计算机集群,特别是对于大规模的基因组比较。我们的方案可以由有能力的研究生或博士后轻松实施,对于数十到数百个基因组,执行时间为数天到数周。PanSyn 为综合进化和功能基因组学提供了最全面和强大的工具。

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