Research output: Contribution to journal › Article
Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats. / David, V.A.; Menotti-Raymond, M.; Wallace, A.C.; Roelke, M.; Kehler, J.; Leighty, R.; Eizirik, E.; Hannah, S.S.; Nelson, G.; Schäffer, A.A.; Connelly, C.J.; O'Brien, S.J.; Ryugo, D.K.
In: G3 (Bethesda, Md.), No. 10, 2014, p. 1881-1891.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats
AU - David, V.A.
AU - Menotti-Raymond, M.
AU - Wallace, A.C.
AU - Roelke, M.
AU - Kehler, J.
AU - Leighty, R.
AU - Eizirik, E.
AU - Hannah, S.S.
AU - Nelson, G.
AU - Schäffer, A.A.
AU - Connelly, C.J.
AU - O'Brien, S.J.
AU - Ryugo, D.K.
PY - 2014
Y1 - 2014
N2 - Copyright © 2014 David et al. 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
AB - Copyright © 2014 David et al. 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
U2 - 10.1534/g3.114.013425
DO - 10.1534/g3.114.013425
M3 - Article
SP - 1881
EP - 1891
JO - G3: Genes, Genomes, Genetics
JF - G3: Genes, Genomes, Genetics
SN - 2160-1836
IS - 10
ER -
ID: 7065897