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Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats.

David VA, Menotti-Raymond M, Wallace AC, Roelke M, Kehler J, Leighty R, Eizirik E, Hannah SS, Nelson G, Schäffer AA, Connelly CJ, O'Brien SJ, Ryugo DK - G3 (Bethesda) (2014)

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.

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Genomic Diversity, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702.

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Related in: MedlinePlus

Graphic depiction of JHU Pedigree. Pedigree 1 (PI) illustrates matings of white to white cats in the JHU archival colony. Pedigree 2 illustrates pedigree developed to map the W locus that is segregating for White coat color. Phenotype of individuals is indicated by color symbol and outline. White symbols denote individuals with a white coat; gray, fully pigmented individuals; half and half symbols (gray/white), white spotted individuals). Hearing capacity is indicated by color outline of the symbol: red outline, deaf; blue, partial hearing; green, normal hearing; black, unknown. Genotypes are depicted below symbol: W, White allele (W, insert of solo LTR; ws, White Spotting allele (insert of full-length FERV element); w, wild-type (no insertion).
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fig1: Graphic depiction of JHU Pedigree. Pedigree 1 (PI) illustrates matings of white to white cats in the JHU archival colony. Pedigree 2 illustrates pedigree developed to map the W locus that is segregating for White coat color. Phenotype of individuals is indicated by color symbol and outline. White symbols denote individuals with a white coat; gray, fully pigmented individuals; half and half symbols (gray/white), white spotted individuals). Hearing capacity is indicated by color outline of the symbol: red outline, deaf; blue, partial hearing; green, normal hearing; black, unknown. Genotypes are depicted below symbol: W, White allele (W, insert of solo LTR; ws, White Spotting allele (insert of full-length FERV element); w, wild-type (no insertion).

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.


Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats.

David VA, Menotti-Raymond M, Wallace AC, Roelke M, Kehler J, Leighty R, Eizirik E, Hannah SS, Nelson G, Schäffer AA, Connelly CJ, O'Brien SJ, Ryugo DK - G3 (Bethesda) (2014)

Graphic depiction of JHU Pedigree. Pedigree 1 (PI) illustrates matings of white to white cats in the JHU archival colony. Pedigree 2 illustrates pedigree developed to map the W locus that is segregating for White coat color. Phenotype of individuals is indicated by color symbol and outline. White symbols denote individuals with a white coat; gray, fully pigmented individuals; half and half symbols (gray/white), white spotted individuals). Hearing capacity is indicated by color outline of the symbol: red outline, deaf; blue, partial hearing; green, normal hearing; black, unknown. Genotypes are depicted below symbol: W, White allele (W, insert of solo LTR; ws, White Spotting allele (insert of full-length FERV element); w, wild-type (no insertion).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4199695&req=5

fig1: Graphic depiction of JHU Pedigree. Pedigree 1 (PI) illustrates matings of white to white cats in the JHU archival colony. Pedigree 2 illustrates pedigree developed to map the W locus that is segregating for White coat color. Phenotype of individuals is indicated by color symbol and outline. White symbols denote individuals with a white coat; gray, fully pigmented individuals; half and half symbols (gray/white), white spotted individuals). Hearing capacity is indicated by color outline of the symbol: red outline, deaf; blue, partial hearing; green, normal hearing; black, unknown. Genotypes are depicted below symbol: W, White allele (W, insert of solo LTR; ws, White Spotting allele (insert of full-length FERV element); w, wild-type (no insertion).
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.

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.

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Genomic Diversity, Center for Cancer Research, National Cancer Institute, Frederick, Maryland 21702.

Show MeSH
Related in: MedlinePlus