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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 &amp;lt; 0.0001) and white spotting (P &amp;lt; 0.0001), respectively.<\/jats:p>","DOI":"10.1534\/g3.114.013425","type":"journal-article","created":{"date-parts":[[2014,8,12]],"date-time":"2014-08-12T22:52:41Z","timestamp":1407883961000},"page":"1881-1891","source":"Crossref","is-referenced-by-count":74,"title":["Endogenous Retrovirus Insertion in the<i>KIT<\/i>Oncogene Determines<i>White<\/i>and<i>White spotting<\/i>in Domestic Cats"],"prefix":"10.1093","volume":"4","author":[{"given":"Victor A","family":"David","sequence":"first","affiliation":[{"name":"Laboratory of Genomic Diversity, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn","family":"Menotti-Raymond","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Diversity, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702"},{"name":"Laboratory of Genomic Diversity, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea Coots","family":"Wallace","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Diversity, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melody","family":"Roelke","sequence":"additional","affiliation":[{"name":"Leidos Biomedical Research Frederick National Laboratory for Cancer Research, Frederick, Maryland 21702"},{"name":"Labooratory Animal Sciences Program (LASP) Bethesda Leidos Biomedical Research, Bethesda, Maryland 20892-2471"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Kehler","sequence":"additional","affiliation":[{"name":"Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20814"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Leighty","sequence":"additional","affiliation":[{"name":"Data Management Services, Inc., National Cancer Institute-Frederick, Frederick, Maryland 21702"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Eizirik","sequence":"additional","affiliation":[{"name":"Faculdade de Bioci\u00eancias, Pontif\u00edcia Universidade Cat\u00f3lica do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul 90619-900, Brazil"},{"name":"Instituto Pr\u00f3-Carn\u00edvoros, Atibaia, Sao Paulo 12945-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven S","family":"Hannah","sequence":"additional","affiliation":[{"name":"Nestl\u00e9 Purina PetCare, St. Louis, Missouri 63164"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Nelson","sequence":"additional","affiliation":[{"name":"BSP-CCR Genetics Core, Frederick National Laboratory, Frederick, Maryland 21702"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro A","family":"Sch\u00e4ffer","sequence":"additional","affiliation":[{"name":"National Center for Biotechnology Information, National Institutes of Health, Bethesda, Maryland 20894"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine J","family":"Connelly","sequence":"additional","affiliation":[{"name":"Garvan Institute of Medical Research, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen J","family":"O\u2019Brien","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Diversity, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702"},{"name":"Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David K","family":"Ryugo","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, Center for Hearing Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205"},{"name":"Garvan Institute of Medical Research, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,10,1]]},"reference":[{"key":"2021042011441143500_bib1","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1101\/gr.8.3.211","article-title":"Software for constructing and verifying pedigrees within large genealogies and an application to the Old Order Amish of Lancaster County.","volume":"8","author":"Agarwala","year":"1998","journal-title":"Genet. 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