A frameshift variant in the EXT1 gene in a feline leukemia virus-negative cat with osteochondromatosis. 2022

Yuji Fujii, and Akihiro Uno, and Shinichi Takitani, and Ryota Iwasaki, and Ryutaro Yoshikawa, and Misuzu Okajima, and Yasushi Makino, and Naoto Ito, and Takashi Mori
Joint Graduate School of Veterinary Sciences, Gifu University, Gifu, Gifu, Japan.

Osteochondromatosis is a benign proliferative disorder characterized by cartilage-capped bony protuberances. In humans and most mammals, variants in the EXT1 or EXT2 gene are strongly correlated with the etiology of osteochondromatosis. However, in cats, osteochondromatosis has only been associated with feline leukemia virus infection. In this study, to explore other factors involved in the etiology of feline osteochondromatosis, we examined the EXT1 and EXT2 genes in a feline leukemia virus-negative cat with osteochondromatosis. Genetic analysis revealed a heterozygous single base pair duplication in exon 6 of the EXT1 gene (XM_023248762.2:c.1468dupC), leading to a premature stop codon in the EXT1 protein. Notably, this frameshift variant is recognized as one of the most common pathogenic variants in human osteochondromatosis. Our data suggest for the first time that genetic variants can have etiologic roles in osteochondromatosis in cats, as in humans and other animals.

UI MeSH Term Description Entries
D008322 Mammals Warm-blooded vertebrate animals belonging to the class Mammalia, including all that possess hair and suckle their young. Mammalia,Mammal
D002371 Cat Diseases Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used. Feline Diseases,Cat Disease,Disease, Cat,Disease, Feline,Diseases, Cat,Diseases, Feline,Feline Disease
D002415 Cats The domestic cat, Felis catus, of the carnivore family FELIDAE, comprising over 30 different breeds. The domestic cat is descended primarily from the wild cat of Africa and extreme southwestern Asia. Though probably present in towns in Palestine as long ago as 7000 years, actual domestication occurred in Egypt about 4000 years ago. (From Walker's Mammals of the World, 6th ed, p801) Felis catus,Felis domesticus,Domestic Cats,Felis domestica,Felis sylvestris catus,Cat,Cat, Domestic,Cats, Domestic,Domestic Cat
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D005097 Exostoses, Multiple Hereditary Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. Chondrodysplasia, Hereditary Deforming,Diaphyseal Aclasis,Exostoses, Familial,Exostoses, Hereditary Multiple,Exostoses, Multiple,Exostoses, Multiple Cartilaginous,Hereditary Multiple Exostoses,Osteochondromas, Multiple,Bessel-Hagen Disease,Exostoses, Multiple, Type I,Exostosis, Familial,Exostosis, Hereditary Multiple,Exostosis, Multiple,Exostosis, Multiple Cartilaginous,Familial Exostoses,Hereditary Multiple Exostosis,Multiple Cartilaginous Exostoses,Multiple Hereditary Exostoses,Multiple Osteochondromas,Multiple Osteochondromatosis,Aclases, Diaphyseal,Aclasis, Diaphyseal,Cartilaginous Exostoses, Multiple,Cartilaginous Exostosis, Multiple,Chondrodysplasias, Hereditary Deforming,Deforming Chondrodysplasia, Hereditary,Deforming Chondrodysplasias, Hereditary,Diaphyseal Aclases,Familial Exostosis,Hereditary Deforming Chondrodysplasia,Hereditary Deforming Chondrodysplasias,Hereditary Exostoses, Multiple,Multiple Cartilaginous Exostosis,Multiple Exostoses,Multiple Exostoses, Hereditary,Multiple Exostosis,Multiple Exostosis, Hereditary,Multiple Osteochondroma,Osteochondroma, Multiple
D005256 Leukemia Virus, Feline A species of GAMMARETROVIRUS causing leukemia, lymphosarcoma, immune deficiency, or other degenerative diseases in cats. Several cellular oncogenes confer on FeLV the ability to induce sarcomas (see also SARCOMA VIRUSES, FELINE). Cat Leukemia Virus,FeLV,Feline Lymphoma Virus,Feline Leukemia Virus,Cat Leukemia Viruses,Feline Leukemia Viruses,Feline Lymphoma Viruses,Leukemia Virus, Cat,Leukemia Viruses, Cat,Leukemia Viruses, Feline,Lymphoma Virus, Feline,Lymphoma Viruses, Feline
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D016368 Frameshift Mutation A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. Mutation, Frameshift,Frame Shift Mutation,Out-of-Frame Deletion,Out-of-Frame Insertion,Out-of-Frame Mutation,Deletion, Out-of-Frame,Deletions, Out-of-Frame,Frame Shift Mutations,Frameshift Mutations,Insertion, Out-of-Frame,Insertions, Out-of-Frame,Mutation, Frame Shift,Mutation, Out-of-Frame,Mutations, Frame Shift,Mutations, Frameshift,Mutations, Out-of-Frame,Out of Frame Deletion,Out of Frame Insertion,Out of Frame Mutation,Out-of-Frame Deletions,Out-of-Frame Insertions,Out-of-Frame Mutations
D018216 Osteochondromatosis A condition marked by the presence of multiple osteochondromas. (Dorland, 27th ed) Osteochondromatoses

Related Publications

Yuji Fujii, and Akihiro Uno, and Shinichi Takitani, and Ryota Iwasaki, and Ryutaro Yoshikawa, and Misuzu Okajima, and Yasushi Makino, and Naoto Ito, and Takashi Mori
August 2023, Journal of comparative pathology,
Yuji Fujii, and Akihiro Uno, and Shinichi Takitani, and Ryota Iwasaki, and Ryutaro Yoshikawa, and Misuzu Okajima, and Yasushi Makino, and Naoto Ito, and Takashi Mori
January 2014, Tierarztliche Praxis. Ausgabe K, Kleintiere/Heimtiere,
Yuji Fujii, and Akihiro Uno, and Shinichi Takitani, and Ryota Iwasaki, and Ryutaro Yoshikawa, and Misuzu Okajima, and Yasushi Makino, and Naoto Ito, and Takashi Mori
July 2020, The Journal of veterinary medical science,
Yuji Fujii, and Akihiro Uno, and Shinichi Takitani, and Ryota Iwasaki, and Ryutaro Yoshikawa, and Misuzu Okajima, and Yasushi Makino, and Naoto Ito, and Takashi Mori
December 2016, Veterinary clinical pathology,
Yuji Fujii, and Akihiro Uno, and Shinichi Takitani, and Ryota Iwasaki, and Ryutaro Yoshikawa, and Misuzu Okajima, and Yasushi Makino, and Naoto Ito, and Takashi Mori
January 1989, Journal of the American Veterinary Medical Association,
Yuji Fujii, and Akihiro Uno, and Shinichi Takitani, and Ryota Iwasaki, and Ryutaro Yoshikawa, and Misuzu Okajima, and Yasushi Makino, and Naoto Ito, and Takashi Mori
January 2004, Journal of the American Animal Hospital Association,
Yuji Fujii, and Akihiro Uno, and Shinichi Takitani, and Ryota Iwasaki, and Ryutaro Yoshikawa, and Misuzu Okajima, and Yasushi Makino, and Naoto Ito, and Takashi Mori
January 2022, Veterinary sciences,
Yuji Fujii, and Akihiro Uno, and Shinichi Takitani, and Ryota Iwasaki, and Ryutaro Yoshikawa, and Misuzu Okajima, and Yasushi Makino, and Naoto Ito, and Takashi Mori
December 2003, The Canadian veterinary journal = La revue veterinaire canadienne,
Yuji Fujii, and Akihiro Uno, and Shinichi Takitani, and Ryota Iwasaki, and Ryutaro Yoshikawa, and Misuzu Okajima, and Yasushi Makino, and Naoto Ito, and Takashi Mori
September 1987, Journal of the American Veterinary Medical Association,
Yuji Fujii, and Akihiro Uno, and Shinichi Takitani, and Ryota Iwasaki, and Ryutaro Yoshikawa, and Misuzu Okajima, and Yasushi Makino, and Naoto Ito, and Takashi Mori
December 2018, Animal genetics,
Copied contents to your clipboard!