Article

A novel mutation in CD40 and its functional characterization.

Medical Biotechnology Institute and Clinical Immunology Laboratory for Jiangsu Province, Soochow University, Suzhou, China.
Human Mutation (impact factor: 5.69). 06/2009; 30(6):985-94. DOI:10.1002/humu.20967 pp.985-94
Source: PubMed

ABSTRACT CD40 is a costimulatory protein expressed on the surface of many different cells. It delivers signals regulating diverse cellular responses, including proliferation, differentiation, growth suppression, and cell death. In this study, we report a novel CD40 mutant (c.234C>A or p.H78Q) that is expressed in the U266 cell line and in freshly isolated tumor cells. Three-dimensional structural model and Scatchard analysis revealed that the mutated residue located in a region is important for binding to CD40L (CD154). Functional analysis indicated that the mutated CD40 was translocated to the CD40 signalosome and involved in CD40 signal transduction. In conclusion, the mutation in CD40 can lead to an alteration of function, including the change of antigen epitope and the binding affinity with CD40L.

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Keywords

binding
 
binding affinity
 
CD40 signal transduction
 
CD40 signalosome
 
different cells
 
freshly
 
growth suppression
 
mutated CD40
 
mutated residue
 
novel CD40 mutant
 
proliferation
 
signals regulating diverse cellular responses
 
Three-dimensional structural model
 
U266 cell line