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Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat


Hair length can be a highly variable trait within the Felis catus species, varying between and within different cat breeds. Previous research has demonstrated this variability is due to recessive mutations within the fibroblast growth factor 5 (FGF5) gene. Following a genetic screen, four longhaired Maine Coons were identified that had only one copy of a known FGF5 mutation. We performed DNA sequencing on samples from two of these Maine Coons and identified a missense mutation in FGF5 c.577G > A p.Ala193Thr. Genetic screening via restriction digest was then performed on samples from the other two Maine Coons and an additional 273 cats of various breeds. This screening found that only the two additional Maine Coons were heterozygous for the novel variant. Furthermore, the novel variant was not identified after in silico analysis of 68 whole genome cat sequences from various breeds, demonstrating that this novel mutation is most likely a breed-specific variant for the Maine Coon, contributing to the longhair phenotype in about 3% of these cats.

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Funding for this study was provided by Genetic Veterinary Sciences, Inc.

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Authors and Affiliations



GDS and HF-S contributed to the study conceptualization and design. Any additional sample recruitment was arranged by LGS. All experiments were performed by GDS. Results were analyzed by GDS and HF-S. GDS produced the figures. In silico analysis was done by KM. GDS wrote the first draft of the manuscript. LGS and BCB provided critical review of the manuscript. GDS and BCB submitted the variant to GenBank. All authors commented on and approved the final manuscript.

Corresponding author

Correspondence to Lisa G. Shaffer.

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Conflict of interest

LGS and GDS are owners of Genetic Veterinary Sciences, Inc, DBA Paw Print Genetics which provides genetic testing on a fee-for-service basis including the CatScan genetic screen for cats. The remaining authors have no conflicts of interest to declare.

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All relevant data generated in this study are included in this published article.

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All feline samples included in this study were obtained through consent of the individual owners or were obtained from otherwise discarded DNA samples after clinical testing at Paw Print Genetics.

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Shaffer, G.D., Ballif, B.C., Meurs, K. et al. Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat. Hum Genet 140, 1517–1523 (2021).

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