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

Autor: Carroll RA; Bond Life Sciences Center, University of Missouri, 1201 Rollins St., Columbia, MO, 65211, USA., Rice ES; Bond Life Sciences Center, University of Missouri, 1201 Rollins St., Columbia, MO, 65211, USA., Murphy WJ; Department of Veterinary Integrative Biosciences, Texas A and M University, College Station, TX, 77843-4458, USA., Lyons LA; Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO, 65211, USA., Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA., Coghill LM; Bioinformatics and Analytics Core, University of Missouri, 1201 Rollins St., Columbia, MO, 65211, USA., Swanson WF; Center for Conservation and Research of Endangered Wildlife, Cincinnati Zoo and Botanical Garden, 3400 Vine St., Cincinnati, OH, 45220, USA., Terio KA; Zoological Pathology Program, University of Illinois, 3300 Golf Rd, Brookfield, IL, 60513, USA., Boyd T; Oklahoma City Zoo and Botanical Garden, 2000 Remington Pl., Oklahoma, OK, 73111, USA., Warren WC; Bond Life Sciences Center, University of Missouri, 1201 Rollins St., Columbia, MO, 65211, USA. warrenwc@missouri.edu.; Department of Surgery, Bond Life Sciences Center, Institute of Data Science and Informatics, University of Missouri, 1201 Rollins St., Columbia, MO, 65211, USA. warrenwc@missouri.edu.
Jazyk: angličtina
Zdroj: Scientific reports [Sci Rep] 2024 Apr 05; Vol. 14 (1), pp. 8073. Date of Electronic Publication: 2024 Apr 05.
DOI: 10.1038/s41598-024-56003-7
Abstrakt: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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