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濒危黑足雪貂(Mustela nigripes)的染色体长度基因组组装和核型。

Chromosome-length genome assembly and karyotype of the endangered black-footed ferret (Mustela nigripes).

机构信息

Center for Evolutionary Hologenomics, The Globe Institute, The University of Copenhagen, Copenhagen, Denmark.

Beckman Center for Conservation Research, San Diego Zoo Wildlife Alliance, Escondido, CA, United States.

出版信息

J Hered. 2023 Aug 23;114(5):539-548. doi: 10.1093/jhered/esad035.

Abstract

The black-footed ferret (Mustela nigripes) narrowly avoided extinction to become an oft-cited example of the benefits of intensive management, research, and collaboration to save a species through ex situ conservation breeding and reintroduction into its former range. However, the species remains at risk due to possible inbreeding, disease susceptibility, and multiple fertility challenges. Here, we report the de novo genome assembly of a male black-footed ferret generated through a combination of linked-read sequencing, optical mapping, and Hi-C proximity ligation. In addition, we report the karyotype for this species, which was used to anchor and assign chromosome numbers to the chromosome-length scaffolds. The draft assembly was ~2.5 Gb in length, with 95.6% of it anchored to 19 chromosome-length scaffolds, corresponding to the 2n = 38 chromosomes revealed by the karyotype. The assembly has contig and scaffold N50 values of 148.8 kbp and 145.4 Mbp, respectively, and is up to 96% complete based on BUSCO analyses. Annotation of the assembly, including evidence from RNA-seq data, identified 21,406 protein-coding genes and a repeat content of 37.35%. Phylogenomic analyses indicated that the black-footed ferret diverged from the European polecat/domestic ferret lineage 1.6 million yr ago. This assembly will enable research on the conservation genomics of black-footed ferrets and thereby aid in the further restoration of this endangered species.

摘要

黑足雪貂(Mustela nigripes)曾濒临灭绝,后来通过强化管理、研究和合作,通过易地保护繁殖和重新引入其先前的栖息地,成功地成为一个经常被引用的物种保护成功案例。然而,由于可能的近亲繁殖、疾病易感性和多种生育挑战,该物种仍然处于危险之中。在这里,我们报告了通过连接读取测序、光学图谱和 Hi-C 接近连接组合生成的雄性黑足雪貂的从头基因组组装。此外,我们还报告了该物种的核型,该核型用于将染色体编号锚定和分配给染色体长度支架。该草图组装约为 2.5 Gb,其中 95.6%锚定到 19 个染色体长度支架,与核型揭示的 2n = 38 条染色体相对应。组装的 contig 和 scaffold N50 值分别为 148.8 kbp 和 145.4 Mbp,基于 BUSCO 分析,组装的完整性高达 96%。组装的注释,包括来自 RNA-seq 数据的证据,鉴定了 21,406 个编码蛋白的基因和 37.35%的重复含量。系统发育基因组学分析表明,黑足雪貂与欧洲雪貂/家猫的谱系在 160 万年前分化。该组装将使黑足雪貂保护基因组学的研究成为可能,从而有助于进一步恢复这一濒危物种。

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