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蝾螈基因组的染色体级组装。

A chromosome-scale assembly of the axolotl genome.

机构信息

Department of Biology, University of Kentucky, Lexington, Kentucky 40506, USA.

Department of Embryology, Carnegie Institution for Science, Baltimore, Maryland 21218, USA.

出版信息

Genome Res. 2019 Feb;29(2):317-324. doi: 10.1101/gr.241901.118. Epub 2019 Jan 24.

Abstract

The axolotl () provides critical models for studying regeneration, evolution, and development. However, its large genome (∼32 Gb) presents a formidable barrier to genetic analyses. Recent efforts have yielded genome assemblies consisting of thousands of unordered scaffolds that resolve gene structures, but do not yet permit large-scale analyses of genome structure and function. We adapted an established mapping approach to leverage dense SNP typing information and for the first time assemble the axolotl genome into 14 chromosomes. Moreover, we used fluorescence in situ hybridization to verify the structure of these 14 scaffolds and assign each to its corresponding physical chromosome. This new assembly covers 27.3 Gb and encompasses 94% of annotated gene models on chromosomal scaffolds. We show the assembly's utility by resolving genome-wide orthologies between the axolotl and other vertebrates, identifying the footprints of historical introgression events that occurred during the development of axolotl genetic stocks, and precisely mapping several phenotypes including a large deletion underlying the mutant. This chromosome-scale assembly will greatly facilitate studies of the axolotl in biological research.

摘要

蝾螈提供了研究再生、进化和发育的关键模型。然而,其庞大的基因组(约 32 Gb)对遗传分析构成了巨大的障碍。最近的研究成果产生了由数千个未排序的支架组成的基因组组装,这些支架可以解析基因结构,但还不能进行大规模的基因组结构和功能分析。我们采用了一种已建立的映射方法,利用密集的 SNP 分型信息,首次将蝾螈基因组组装成 14 条染色体。此外,我们使用荧光原位杂交技术验证了这 14 个支架的结构,并将每个支架分配给其相应的物理染色体。这个新的组装覆盖了 27.3 Gb,包含了染色体支架上注释基因模型的 94%。我们通过解析蝾螈和其他脊椎动物之间的全基因组同源性,确定了在蝾螈遗传品系发展过程中发生的历史渗入事件的痕迹,以及精确映射了包括突变体背后的大片段缺失在内的几种表型,展示了该组装的实用性。这个染色体水平的组装将极大地促进对蝾螈的生物学研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ac1/6360810/ec181b96487e/317f01.jpg

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