Chromosome-level genome assembly of the Endangered scaly-sided merganser Mergus squamatus with insight into its demographic history.

IF 2.4 3区 生物学 Q3 GENETICS & HEREDITY
Joshua J Wright, Heleen De Weerd, Alexander C Lees, Kirsty J Shaw, Sarah M Griffiths
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Abstract

The scaly-sided merganser, Mergus squamatus, is an Endangered piscivorous duck which has been declining since the late 1900s due to habitat loss, over-hunting, and climate change. Despite being a species of global conservation concern and subject to ex- and in-situ conservation efforts, genomic research has been limited, hindering our understanding of its population genetic status and evolutionary history. In this study, we present the first fully annotated, chromosome-level genome for the scaly-sided merganser, generated using Oxford Nanopore long reads, Illumina short reads, and Hi-C sequencing. The final assembly spans 1.1 Gb across 308 scaffolds, 64 of which are anchored into 35 chromosomes, plus the mitogenome, covering 99.5% of the genome. The assembly shows high contiguity (N50 = 84.3Mb) and completeness, with a Benchmarking Universal Single-Copy Ortholog (BUSCO) score of 98%. Repeat sequences comprise 9.55% of the genome. Homology-based gene annotation identified ∼15,200 protein-coding genes. A complete 16,624 bp mitochondrial genome was also assembled and annotated. Synteny analysis revealed strong chromosomal conservation across the wider Anatidae family, with evidence of lineage-specific rearrangements. Pairwise Sequential Markovian Coalescence modelling indicates recent stability in the effective population size of the species, with past declines coinciding with Pleistocene glacial cycles. Our high-quality genome provides an essential resource for conservation genomic and evolutionary studies of the scaly-sided merganser, supporting ongoing efforts to manage and protect this globally threatened species.

濒危鳞片面秋沙鸭的染色体水平基因组组装与洞察其人口历史。
长有鳞片的秋沙鸭(Mergus squamatus)是一种濒临灭绝的食鱼鸭,自20世纪后期以来,由于栖息地丧失、过度捕猎和气候变化,这种鸭的数量一直在减少。尽管它是一种全球保护的物种,并受到前地和原位保护的努力,但基因组研究有限,阻碍了我们对其种群遗传状况和进化历史的了解。在这项研究中,我们提出了第一个完全注释的染色体水平的鳞片侧merganser基因组,使用Oxford Nanopore长读取,Illumina短读取和Hi-C测序生成。最终的组装横跨308个支架,直径1.1 Gb,其中64个固定在35条染色体上,加上有丝分裂基因组,覆盖了99.5%的基因组。该程序集具有较高的连续性(N50 = 84.3Mb)和完整性,基准通用单拷贝Ortholog (BUSCO)得分为98%。重复序列占基因组的9.55%。基于同源性的基因注释鉴定了约15,200个蛋白质编码基因。一个完整的16,624 bp线粒体基因组也被组装和注释。Synteny分析显示,在更广泛的鸭科家族中,有很强的染色体保守性,有谱系特异性重排的证据。两两顺序马尔可夫聚结模型表明,该物种的有效种群规模最近保持稳定,过去的下降与更新世冰川旋回相吻合。我们的高质量基因组为鳞面秋沙鸭的保护基因组和进化研究提供了重要的资源,支持了管理和保护这一全球濒危物种的持续努力。
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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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