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

• Published in: Human genetics Vol. 140; no. 11; pp. 1517 - 1523
• Main Authors: Shaffer, Griffin D., Ballif, Blake C., Meurs, Kathryn, Shaffer, Lisa G., Flores-Smith, Helen
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.11.2021; Springer; Springer Nature B.V
• Subjects: Analysis; Biomedical and Life Sciences; Biomedicine; Companion Animal Genetics; DNA sequencing; Fibroblast growth factor 5; Fibroblast growth factors; Fibroblasts; Gene Function; Genes; Genetic aspects; Genetic research; Genetic screening; Genomes; Genomics; Growth factors; Human Genetics; Metabolic Diseases; Missense mutation; Molecular Medicine; Mutation; Nucleotide sequencing; Original Investigation; Phenotypes; United States > US; Maine
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s00439-021-02373-1

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.