利用Synteny为保护生成参考基因组:组装Hector's和Māui海豚的基因组。

IF 5.5 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
S Alvarez-Costes, C S Baker, R Constantine, E L Carroll, J Guhlin, L Dutoit, S Ferreira, D Heimeier, N J Gemmell, J Gillum, R M Hamner, W Rayment, W Roe, B Te Aikā, L Urban, A Alexander
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引用次数: 0

摘要

对遗传多样性减少对濒危物种保护影响的日益关注,促使人们努力通过脊椎动物基因组计划等联盟获得染色体水平的基因组。然而,为许多濒危物种组装参考基因组仍然具有挑战性,因为难以获得可作为长期保护收集特征的最佳输入样本(例如新鲜组织、细胞系)。在这里,我们提出了一个管道,利用基因组合成来构建高质量的基因组保护关注的物种,尽管不理想的样本和/或测序数据,证明其在Hector's和Māui海豚上的使用。这些新西兰特有的海豚由于其沿海栖息地和较小的种群规模而受到人类活动的威胁。赫克托耳海豚被世界自然保护联盟列为濒危物种,而Māui海豚是最濒危的海洋哺乳动物之一。为了组装这些海豚的参考基因组,我们创建了一个管道,将从头组装工具与参考指导技术结合起来,利用密切相关物种的染色体水平基因组。尽管非最佳输入组织样本,该管道组装了高度连续的染色体水平基因组(支架N50: 110 MB,支架L50: 9, miniBUSCO完整性评分bb0 96.35%)。我们证明这些基因组可以提供与保护相关的见解,包括揭示长期小种群规模的历史人口统计学,亚种分化发生在约20 kya,可能与末次盛冰期有关。Māui海豚的杂合度比赫克托耳低40%,与其他以遗传多样性降低而著称的鲸类物种相当。通过这些范例基因组,我们证明我们的管道可以提供高质量的基因组资源,以促进正在进行的保护基因组学研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Leveraging Synteny to Generate Reference Genomes for Conservation: Assembling the Genomes of Hector's and Māui Dolphins.

Escalating concern regarding the impacts of reduced genetic diversity on the conservation of endangered species has spurred efforts to obtain chromosome-level genomes through consortia such as the Vertebrate Genomes Project. However, assembling reference genomes for many threatened species remains challenging due to difficulties obtaining optimal input samples (e.g., fresh tissue, cell lines) that can characterise long-term conservation collections. Here, we present a pipeline that leverages genome synteny to construct high-quality genomes for species of conservation concern despite less-than-optimal samples and/or sequencing data, demonstrating its use on Hector's and Māui dolphins. These endemic New Zealand dolphins are threatened by human activities due to their coastal habitat and small population sizes. Hector's dolphins are classified as endangered by the IUCN, while the Māui dolphin is among the most critically endangered marine mammals. To assemble reference genomes for these dolphins, we created a pipeline combining de novo assembly tools with reference-guided techniques, utilising chromosome-level genomes of closely related species. The pipeline assembled highly contiguous chromosome-level genomes (scaffold N50: 110 MB, scaffold L50: 9, miniBUSCO completeness scores > 96.35%), despite non-optimal input tissue samples. We demonstrate that these genomes can provide insights relevant for conservation, including historical demography revealing long-term small population sizes, with subspecies divergence occurring ~20 kya, potentially linked to the Last Glacial Maximum. Māui dolphin heterozygosity was 40% lower than Hector's and comparable to other cetacean species noted for reduced genetic diversity. Through these exemplar genomes, we demonstrate that our pipeline can provide high-quality genomic resources to facilitate ongoing conservation genomics research.

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来源期刊
Molecular Ecology Resources
Molecular Ecology Resources 生物-进化生物学
CiteScore
15.60
自引率
5.20%
发文量
170
审稿时长
3 months
期刊介绍: Molecular Ecology Resources promotes the creation of comprehensive resources for the scientific community, encompassing computer programs, statistical and molecular advancements, and a diverse array of molecular tools. Serving as a conduit for disseminating these resources, the journal targets a broad audience of researchers in the fields of evolution, ecology, and conservation. Articles in Molecular Ecology Resources are crafted to support investigations tackling significant questions within these disciplines. In addition to original resource articles, Molecular Ecology Resources features Reviews, Opinions, and Comments relevant to the field. The journal also periodically releases Special Issues focusing on resource development within specific areas.
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