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Wn mutation of c-kit receptor affects its post-translational processing and extracellular expression
U Koshimizu1, T Tsujimura, K Isozaki
1Research Institute for Microbial Diseases, Osaka University, Japan.
Oncogene
|January 1, 1994
Summary
The Wn mutation in mice affects c-kit protein maturation, causing truncation and impaired transport. This novel c-kit mutation impacts post-translational processing and cell surface expression.
Area of Science:
- Molecular Biology
- Genetics
- Cell Biology
Background:
- The W locus in mice encodes the c-kit receptor tyrosine kinase, crucial for various cellular functions.
- A novel mutant allele, Wn, results in c-kit protein with reduced size and surface expression in cultured mast cells (CMC).
Purpose of the Study:
- To investigate the biochemical characteristics of the Wn-mutant c-kit protein.
- To understand the impact of the Wn mutation on c-kit protein processing and localization.
Main Methods:
- Biochemical analysis of c-kit protein from Wn/Wn CMC.
- Expression studies using 293T cells transfected with Wn-type c-kit cDNA (c-kitWn).
Main Results:
- The c-kit product in Wn/Wn CMC exhibited truncation of the cytoplasmic domain and reduced glycosylation.
- Transfected cells expressing c-kitWn showed impaired glycosylation and extracellular expression, but no truncation.
- These findings suggest defective post-translational processing and endoplasmic reticulum retention of the Wn-mutant c-kit protein.
Conclusions:
- The Wn mutation impairs c-kit protein maturation, affecting its transport to the plasma membrane.
- This study provides the first evidence of a c-kit mutation influencing post-translational processing of its product.