ArticleG3 (Bethesda, Md.)2014
Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats.
Article in G3 (Bethesda, Md.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
41 citing papers in PubMed.
- Blue eyes in Felis catus: genetics and health impacts.Companion animal health and genetics · 2026Review
- Whole-genome sequencing of CRFK and PG-4 cells to infer the phenotype of the original donor cats.Companion animal health and genetics · 2026Article
- Review
- The late arrival of domestic cats in China via the Silk Road after 3,500 years of human-leopard cat commensalism.Cell genomics · 2026Article
- Dominant blue eyes in Maine Coon cats: New PAX3 variant and updated phenotypic data.Animal genetics · 2025Article
- Taurine pangenome uncovers a segmental duplication upstream ofGenome research · 2025Article
- Genetic Testing: practical dos and don'ts for cats.Journal of feline medicine and surgery · 2024Review
- PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome.G3 (Bethesda, Md.) · 2024Article
- Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat.Animals : an open access journal from MDPI · 2024Article
- TAD border deletion at the Kit locus causes tissue-specific ectopic activation of a neighboring gene.Nature communications · 2024Article
- Domestication GeneInternational journal of molecular sciences · 2024Article
- Evaluation of the prevalence of congenital sensorineural deafness in a population of 72 client-owned purebred white cats examined from 2007 to 2021.BMC veterinary research · 2022Article
- Article
- Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.PLoS genetics · 2022Article
- Identification of Candidate Genes for Pigmentation in Camels Using Genotyping-by-Sequencing.Animals : an open access journal from MDPI · 2022Article
- Retrotransposon Insertion Polymorphisms (RIPs) in Pig Coat Color Candidate Genes.Animals : an open access journal from MDPI · 2022Article
- Prevalence of Varied Coat Coloration in a Yellow-Throated Marten (Animals : an open access journal from MDPI · 2021Article
- A retroviral insertion in the tyrosinase (Journal of animal science and technology · 2021Article
- Examining the molecular basis of coat color in a nocturnal primate family (Lorisidae).Ecology and evolution · 2021Article
- A Porcine Congenital Single-Sided Deafness Model, Its Population Statistics and Degenerative Changes.Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
The Dominant White locus (W) in the domestic cat demonstrates pleiotropic effects exhibiting complete penetrance for absence of coat pigmentation and incomplete penetrance for deafness and iris hypopigmentation. We performed linkage analysis using a pedigree segregating White to identify KIT (Chr. B1) as the feline W locus. Segregation and sequence analysis of the KIT gene in two pedigrees (P1 and P2) revealed the remarkable retrotransposition and evolution of a feline endogenous retrovirus (FERV1) as responsible for two distinct phenotypes of the W locus, Dominant White, and white spotting. A full-length (7125 bp) FERV1 element is associated with white spotting, whereas a FERV1 long terminal repeat (LTR) is associated with all Dominant White individuals. For purposes of statistical analysis, the alternatives of wild-type sequence, FERV1 element, and LTR-only define a triallelic marker. Taking into account pedigree relationships, deafness is genetically linked and associated with this marker; estimated P values for association are in the range of 0.007 to 0.10. The retrotransposition interrupts a DNAase I hypersensitive site in KIT intron 1 that is highly conserved across mammals and was previously demonstrated to regulate temporal and tissue-specific expression of KIT in murine hematopoietic and melanocytic cells. A large-population genetic survey of cats (n = 270), representing 30 cat breeds, supports our findings and demonstrates statistical significance of the FERV1 LTR and full-length element with Dominant White/blue iris (P < 0.0001) and white spotting (P < 0.0001), respectively.
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