Open AccessExon skipping by mutation of an authentic splice site ofc-kitgene inW/Wmouse
Author(s) -
Shin Ichi Hayashi,
Takahiro Kunisada,
Michio Ogawa,
Kikuo Yamaguchi,
Shin Ichi Nishikawa
Publication year - 1991
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/19.6.1267
Subject(s) - biology , exon , splice site mutation , exon trapping , genetics , microbiology and biotechnology , mutation , exon skipping , transmembrane domain , splice , transmembrane protein , gene , rna splicing , alternative splicing , coding region , proto oncogene proteins c kit , receptor , haematopoiesis , rna , stem cell , stem cell factor
The murine mutation dominant white spotting (W) is in the proto-oncogene, c-kit. The receptor tyrosine kinase encoded by this gene has pleiotropic effects on murine development including hemopoietic cells, pigment cells, and germ cells. In this study, mutation in W homozygous mouse was identified as a single base substitution (GT----AT) at the 5'-splice donor site of the exon which encodes the transmembrane domain. Two types of aberrant exon skipping resulted from this mutation, occurred in a tissue specific manner. Either transcript lost the exon coding for transmembrane region and therefore the product might not be functional for signal transduction. Any unusual cryptic splice sites were not activated by this mutation as beta-globin gene in beta-thalassaemia. In addition, twelve base pair sequence of the 3'-end of the exon prior to the exon coding for transmembrane domain was found to be alternatively spliced. These findings should provide the genetic base for not only the receptor function but the splicing mechanism.