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端粒到端粒桉树 regnans 基因组:揭示世界上最高的树木之一的结构和基因中的单倍型变异。

A telomere-to-telomere Eucalyptus regnans genome: unveiling haplotype variance in structure and genes within one of the world's tallest trees.

机构信息

Research School of Biology, Australian National University, Canberra, ACT, Australia.

Giant Tree Expeditions, Hobart, TAS, Australia.

出版信息

BMC Genomics. 2024 Sep 30;25(1):913. doi: 10.1186/s12864-024-10810-4.

Abstract

BACKGROUND

Eucalyptus regnans (Mountain Ash) is an Australian native giant tree species which form forests that are among the highest known carbon-dense biomasses in the world. To enhance genomic studies in this ecologically important species, we assembled a high-quality, mostly telomere-to-telomere complete, chromosome-level, haplotype-resolved reference genome. We sampled a single tree, the Centurion, which is currently a contender for the world's tallest flowering plant.

RESULTS

Using long-read sequencing data (PacBio HiFi, Oxford Nanopore ultra-long reads) and chromosome conformation capture data (Hi-C), we assembled the most contiguous and complete Eucalyptus reference genome to date. For each haplotype, we observed contig N50s exceeding 36 Mbp, scaffold N50s exceeding 43 Mbp, and genome BUSCO completeness exceeding 99%. The assembled genome revealed extensive structural variations between the two haplotypes, consisting mostly of insertions, deletions, duplications and translocations. Analysis of gene content revealed haplotype-specific genes, which were enriched in functional categories related to transcription, energy production and conservation. Additionally, many genes reside within structurally rearranged regions, particularly duplications, suggesting that haplotype-specific variation may contribute to environmental adaptation in the species.

CONCLUSIONS

Our study provides a foundation for future research into E. regnans environmental adaptation, and the high-quality genome will be a powerful resource for conservation of carbon-dense giant tree forests.

摘要

背景

桉树(山灰)是澳大利亚的一种本土巨型树种,其所形成的森林是世界上已知碳密度最高的生物量之一。为了增强对这个生态重要物种的基因组研究,我们组装了一个高质量的、基本上端粒到端粒完整的、染色体水平的、单倍型解析的参考基因组。我们对一棵名为“Centurion”的树进行了采样,这棵树目前是世界上最高的开花植物的有力竞争者。

结果

使用长读测序数据(PacBio HiFi、Oxford Nanopore 超长读长)和染色体构象捕获数据(Hi-C),我们组装了迄今为止桉树最连续和完整的参考基因组。对于每个单倍型,我们观察到的 contig N50 超过 36 Mbp,scaffold N50 超过 43 Mbp,基因组 BUSCO 完整性超过 99%。组装的基因组揭示了两个单倍型之间广泛的结构变异,主要由插入、缺失、重复和易位组成。对基因含量的分析揭示了单倍型特异性基因,这些基因在与转录、能量产生和保护相关的功能类别中富集。此外,许多基因位于结构重排区域内,特别是在重复区域内,这表明单倍型特异性变异可能有助于该物种的环境适应。

结论

我们的研究为桉树环境适应的未来研究提供了基础,高质量的基因组将成为保护碳密度高的巨型树种森林的有力资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2143/11443909/a0aa75bb8e58/12864_2024_10810_Fig1_HTML.jpg

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