@article{5e45904bd38540debc05494f947347bc,
title = "A chromosome-scale fishing cat reference genome for the evaluation of potential germline risk variants",
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.",
author = "Carroll, {Rachel A.} and Rice, {Edward S.} and Murphy, {William J.} and Lyons, {Leslie A.} and Francoise Thibaud-Nissen and Coghill, {Lyndon M.} and Swanson, {William F.} and Terio, {Karen A.} and Tyler Boyd and Warren, {Wesley C.}",
note = "We thank the following North American zoo institutions that provided sample collection and shipment: Oklahoma City Zoo and Botanical Garden, Cincinnati Zoo and Botanical Garden, San Antonio Zoo, Memphis Zoological Garden and Aquarium, San Francisco Zoo, San Diego Zoo, Point Defiance Zoo and Aquarium, Mill Mountain Zoo, Smithsonian National Zoo, and The Jackson Zoo. We also want to thank the Chicago Zoological Society fishing cat Animal Care Specialists for providing insight into fishing cat management and for providing a photograph of the reference cat. Finally, the funding for all WGS data used for the population analysis and TCC investigation were covered under the University of Missouri Genomics Technology Core Tier 1 Sequencing Funds, with additional support provided by the Basis Foundation. WJM acknowledges support from National Science Foundation grant DEB-1753760. The work of FTN was supported by the National Center for Biotechnology Information of the National Library of Medicine (NLM), National Institutes of Health. The computation for this work was performed on the high-performance computing infrastructure provided by Research Support Solutions and in part by the National Science Foundation under grant number CNS-1429294 at the University of Missouri, Columbia MO. DOI: https://doi.org/ https://doi.org/10.32469/10355/69802 .",
year = "2024",
month = dec,
doi = "10.1038/s41598-024-56003-7",
language = "English (US)",
volume = "14",
journal = "Scientific reports",
issn = "2045-2322",
publisher = "Nature Research",
number = "1",
}