Characterization of Ws Mutant Allele of Rats: A 12-Base Deletion in Tyrosine Kinase Domain of c-kit Gene

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 th...

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Bibliographic Details
Published in:Blood 1991-10, Vol.78 (8), p.1942-1946
Main Authors: Tsujimura, Tohru, Hirota, Seiichi, Nomura, Shintaro, Niwa, Yoshiki, Yamazaki, Masaru, Tono, Toshiharu, Morii, Eiichi, Kim, Hyung-Min, Kondo, Kyoji, Nishimune, Yoshitake, Kitamura, Yukihiko
Format: Article
Language:English
Subjects:
Alleles
Animals
Base Sequence
Biological and medical sciences
Chromosome Deletion
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Molecular Sequence Data
Protein-Tyrosine Kinases - genetics
Rats
Rats, Inbred BN
Rats, Mutant Strains - genetics
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Summary: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.© 1991 by The American Society of Hematology. 0006-4971/91 / 7808-0007$3.00/0
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V78.8.1942.1942