Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats.
Bottom Line: B1) as the feline W locus.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.
Affiliation: Laboratory of Genomic Diversity, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702.Show MeSH
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Mentions: A domestic cat Dominant White pedigree was maintained for approximately 20 years at The Johns Hopkins University to research the physical basis of sensorineural deafness in these animals (Morgan et al. 1994; Saada et al. 1996; Ryugo et al. 2003, 1997, 1998) (Pedigree 1 in Figure 1). The white spotting phenotype was also observed at low frequency in more recent generations of the pedigree. Archival samples of genomic DNA from this pedigree were utilized in the analysis.
Affiliation: Laboratory of Genomic Diversity, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702.