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Publication : The Genomic Structure of the Proto-Oncogene c-kit Encoded at the Murine White Spotting Locus.

First Author  Chu TY Year  1995
Journal  J Biomed Sci Volume  2
Issue  1 Pages  36-45
PubMed ID  11725039 Mgi Jnum  J:25052
Mgi Id  MGI:72766 Doi  10.1007/BF02257923
Citation  Chu TY, et al. (1995) The genomic structure of the proto-oncogene c-kit encoded at the murine White Spotting locus. J Biomed Sci 2(1):36-45
abstractText  The proto-oncogene c-kit encodes a transmembrane receptor with tyrosine kinase activity, which transduces signal from kit ligand (KL), and is responsible for hematogenesis, melanogenesis and gametogenesis during fetal development and adult life. Partial or complete loss of c-kit function due to mutation of the c-kit or KL gene accounts for the phenotypes of the murine White-spotting and Steel mutations, respectively. The c-kit protein has the structural features of extracellular immunoglobulin-like domains and intracellular kinase domain with a hydrophilic 'insert'. These features have categorized c-kit along with platelet-derived growth factor receptors, colony-stimulating factor 1 receptor (c-fms) and others to subclass III of the receptor tyrosine kinases. We report the structure of the murine c-kit gene. The c-kit gene consists of 21 exons and spans at least 70 kb. The 5' and 3' flanking exons encode the untranslated sequences as well as part of the coding sequence. The internal exons are typically small with each of them encoding a structurally important subunit of the protein. Comparison of gene structures of members of the subclass III receptor tyrosine kinases has improved our understanding of the structure-functional relationship of the c-kit protein. Copyright 1995 S. Karger AG, Basel
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