Refinement of the Antarctic fur seal (Arctocephalus gazella) reference genome increases continuity and completeness.

IF 2.1 3区 生物学 Q3 GENETICS & HEREDITY G3: Genes|Genomes|Genetics Pub Date : 2024-07-31 DOI:10.1093/g3journal/jkae179
Kosmas Hench, David L J Vendrami, Jaume Forcada, Joseph I Hoffman
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Abstract

The Antarctic fur seal (Arctocephalus gazella) is an important top predator and indicator of the health of the Southern Ocean ecosystem. Although abundant, this species narrowly escaped extinction due to historical sealing and is currently declining as a consequence of climate change. Genomic tools are essential for understanding these anthropogenic impacts and for predicting long-term viability. However, the current reference genome ("arcGaz3") shows considerable room for improvement in terms of both completeness and contiguity. We therefore combined PacBio sequencing, haplotype-aware HiRise assembly and scaffolding based on Hi-C information to generate a refined assembly of the Antarctic fur seal reference genome ("arcGaz4_h1"). The new assembly is 2.53Gb long, has a scaffold N50 of 55.6Mb and includes 18 chromosome-sized scaffolds, which correspond to the 18 chromosomes expected in otariids. Genome completeness is greatly improved, with 23,408 annotated genes and a Benchmarking Universal Single-Copy Orthologs (BUSCO) score raised from 84.7% to 95.2%. We furthermore included the new genome in a reference-free alignment of the genomes of eleven pinniped species to characterize evolutionary conservation across the Pinnipedia using genome-wide Genomic Evolutionary Rate Profiling (GERP). We then implemented Gene Ontology (GO) enrichment analyses to identify biological processes associated with those genes showing the highest levels of either conservation or differentiation between the two major pinniped families, the Otariidae and Phocidae. We show that processes linked to neuronal development, the circulatory system and osmoregulation are overrepresented both in conserved as well as in differentiated regions of the genome.

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南极海狗(Arctocephalus gazella)参考基因组的完善提高了连续性和完整性。
南极海狗(Arctocephalus gazella)是一种重要的顶级掠食者,也是南大洋生态系统健康状况的指标。虽然该物种数量丰富,但由于历史上的海豹捕杀,它险些灭绝,目前由于气候变化正在减少。基因组工具对于了解这些人为影响和预测长期生存能力至关重要。然而,目前的参考基因组("arcGaz3")在完整性和连续性方面都有很大的改进空间。因此,我们将 PacBio 测序、单体型感知 HiRise 组装和基于 Hi-C 信息的脚手架相结合,生成了南极海狗参考基因组("arcGaz4_h1")的精细组装。新的组装体长 2.53Gb,脚手架 N50 为 55.6Mb,包括 18 个染色体大小的脚手架,与椭圆形海豹的 18 条染色体相对应。基因组的完整性大大提高,注释了 23,408 个基因,通用单拷贝同源物基准(BUSCO)得分从 84.7% 提高到 95.2%。此外,我们还将新基因组纳入了对 11 个鳍足类物种基因组的无参照比对中,以利用全基因组范围的基因组进化率分析(GERP)来描述整个鳍足类的进化保护情况。然后,我们进行了基因本体(GO)富集分析,以确定与那些在两个主要的凤头鱼科(Otariidae 和 Phocidae)之间显示出最高水平的保守性或分化性的基因相关的生物过程。我们发现,与神经元发育、循环系统和渗透调节有关的过程在基因组的保守区和分化区都有较高的代表性。
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来源期刊
G3: Genes|Genomes|Genetics
G3: Genes|Genomes|Genetics GENETICS & HEREDITY-
CiteScore
5.10
自引率
3.80%
发文量
305
审稿时长
3-8 weeks
期刊介绍: G3: Genes, Genomes, Genetics provides a forum for the publication of high‐quality foundational research, particularly research that generates useful genetic and genomic information such as genome maps, single gene studies, genome‐wide association and QTL studies, as well as genome reports, mutant screens, and advances in methods and technology. The Editorial Board of G3 believes that rapid dissemination of these data is the necessary foundation for analysis that leads to mechanistic insights. G3, published by the Genetics Society of America, meets the critical and growing need of the genetics community for rapid review and publication of important results in all areas of genetics. G3 offers the opportunity to publish the puzzling finding or to present unpublished results that may not have been submitted for review and publication due to a perceived lack of a potential high-impact finding. G3 has earned the DOAJ Seal, which is a mark of certification for open access journals, awarded by DOAJ to journals that achieve a high level of openness, adhere to Best Practice and high publishing standards.
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