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A novel mutation in CD40 and its functional characterization.

Qi, Chun-Jian; Zheng, Lu; Ma, Hong-Bing; Fei, Min; Qian, Ke-Qing; Shen, Bai-Rong; Wu, Chang-Ping; Vihinen, Mauno LU and Zhang, Xue-Guang (2009) In Human Mutation 30(6). p.985-994
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... (More)
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. (Less)
Please use this url to cite or link to this publication:
author
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Mutation: genetics, Mutant Proteins: metabolism, CD40 Ligand: metabolism, B-Lymphocytes: metabolism, CD40: metabolism, CD40: genetics, Annexin A5: metabolism, Antigens, CD40: chemistry, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins: metabolism
in
Human Mutation
volume
30
issue
6
pages
985 - 994
publisher
John Wiley & Sons
external identifiers
  • pmid:19479954
  • scopus:66349083821
ISSN
1059-7794
DOI
10.1002/humu.20967
language
English
LU publication?
no
id
c16873c6-e49c-4b19-af3f-2014047bc769 (old id 3634784)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/19479954?dopt=Abstract
date added to LUP
2013-06-12 20:40:44
date last changed
2017-01-01 07:35:10
@article{c16873c6-e49c-4b19-af3f-2014047bc769,
  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.},
  author       = {Qi, Chun-Jian and Zheng, Lu and Ma, Hong-Bing and Fei, Min and Qian, Ke-Qing and Shen, Bai-Rong and Wu, Chang-Ping and Vihinen, Mauno and Zhang, Xue-Guang},
  issn         = {1059-7794},
  keyword      = {Mutation: genetics,Mutant Proteins: metabolism,CD40 Ligand: metabolism,B-Lymphocytes: metabolism,CD40: metabolism,CD40: genetics,Annexin A5: metabolism,Antigens,CD40: chemistry,Tumor Necrosis Factor Receptor-Associated Peptides and Proteins: metabolism},
  language     = {eng},
  number       = {6},
  pages        = {985--994},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {A novel mutation in CD40 and its functional characterization.},
  url          = {http://dx.doi.org/10.1002/humu.20967},
  volume       = {30},
  year         = {2009},
}