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染色体级别的渔猫参考基因组,用于评估潜在的生殖系风险变异。

A chromosome-scale fishing cat reference genome for the evaluation of potential germline risk variants.

机构信息

Bond Life Sciences Center, University of Missouri, 1201 Rollins St., Columbia, MO, 65211, USA.

Department of Veterinary Integrative Biosciences, Texas A and M University, College Station, TX, 77843-4458, USA.

出版信息

Sci Rep. 2024 Apr 5;14(1):8073. doi: 10.1038/s41598-024-56003-7.

Abstract

The fishing cat, Prionailurus viverrinus, faces a population decline, increasing the importance of maintaining healthy zoo populations. Unfortunately, zoo-managed individuals currently face a high prevalence of transitional cell carcinoma (TCC), a form of bladder cancer. To investigate the genetics of inherited diseases among captive fishing cats, we present a chromosome-scale assembly, generate the pedigree of the zoo-managed population, reaffirm the close genetic relationship with the Asian leopard cat (Prionailurus bengalensis), and identify 7.4 million single nucleotide variants (SNVs) and 23,432 structural variants (SVs) from whole genome sequencing (WGS) data of healthy and TCC cats. Only BRCA2 was found to have a high recurrent number of missense mutations in fishing cats diagnosed with TCC when compared to inherited human cancer risk variants. These new fishing cat genomic resources will aid conservation efforts to improve their genetic fitness and enhance the comparative study of feline genomes.

摘要

渔猫(Prionailurus viverrinus)面临种群数量下降的问题,这使得维持健康的动物园种群变得更加重要。不幸的是,目前圈养的渔猫个体中存在较高的移行细胞癌(TCC)发病率,这是一种膀胱癌。为了研究圈养渔猫遗传性疾病的遗传学,我们提供了一个染色体级别的组装结果,生成了动物园管理种群的系谱,再次确认了与亚洲豹猫(Prionailurus bengalensis)的密切遗传关系,并从健康和 TCC 猫的全基因组测序(WGS)数据中鉴定出 740 万个单核苷酸变异(SNV)和 23432 个结构变异(SV)。与遗传性人类癌症风险变异相比,仅在被诊断患有 TCC 的渔猫中发现 BRCA2 具有高频率的错义突变。这些新的渔猫基因组资源将有助于保护工作,以提高它们的遗传适应性,并增强对猫科基因组的比较研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/996d/10997796/8bc0f0db8234/41598_2024_56003_Fig1_HTML.jpg

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