title: Characterization of Ws mutant allele of rats: a 12-base deletion in tyrosine kinase domain of c-kit gene.
abstract: Homozygous mutant rats at the newly found white spotting (Ws) locus were anemic and deficient in mast cells and melanocytes. Because the phenotype of Ws/Ws rats resembled the phenotype of mice possessing a double-gene dose of mutant alleles at the W locus and because the c-kit gene was mapped at the W locus of mice, we characterized the c-kit gene of Ws/Ws rats. The authentic sequence of the rat c-kit cDNA was determined by using a cDNA library prepared from the hippocampus of Sprague-Dawley rats. The c-kit cDNA of Ws/Ws and normal (+/+) control rats was obtained by reverse transcriptase modification of the polymerase chain reaction. When compared with the authentic sequence, a deletion of 12 bases was found in the c-kit cDNA of Ws/Ws rats. This change was shown to be a result of the deletion of the genomic DNA. Four amino acids encoded by the deleted 12 bases (ie, Val-Lys-Gly-Asn) were located at two amino acids downstream from the tyrosine autophosphorylation site in the c-kit kinase and were conserved not only in mouse and human c-kit kinases but also in mouse and human c-fms kinases (ie, receptors of colony-stimulating factor-1). Taken together, the Ws/Ws rat is the first characterized mutant of the c-kit gene in an animal species other than the mouse.
authors.affiliation: Department of Pathology, Osaka University Medical School, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Tsujimura
authors.forename: S
authors.initials: S
authors.lastname: Hirota
authors.forename: S
authors.initials: S
authors.lastname: Nomura
authors.forename: Y
authors.initials: Y
authors.lastname: Niwa
authors.forename: M
authors.initials: M
authors.lastname: Yamazaki
authors.forename: T
authors.initials: T
authors.lastname: Tono
authors.forename: E
authors.initials: E
authors.lastname: Morii
authors.forename: H M
authors.initials: HM
authors.lastname: Kim
authors.forename: K
authors.initials: K
authors.lastname: Kondo
authors.forename: Y
authors.initials: Y
authors.lastname: Nishimune
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002872:Chromosome Deletion; D008969:Molecular Sequence Data; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D051381:Rats; D011914:Rats, Inbred BN; D011922:Rats, Mutant Strains / Q000235:genetics*
chemical_list: D011505:Protein-Tyrosine Kinases