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A novel mutation in CD40 and its functional characterization.

In English

Författare

  • Chun-Jian Qi
  • Lu Zheng
  • Hong-Bing Ma
  • Min Fei
  • Ke-Qing Qian
  • Bai-Rong Shen
  • Chang-Ping Wu
  • Mauno Vihinen
  • Xue-Guang Zhang

Summary, in English

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.

Publiceringsår

2009

Språk

Engelska

Sidor

985-994

Publikation/Tidskrift/Serie

Human Mutation

Volym

30

Issue

6

Dokumenttyp

Artikel i tidskrift

Förlag

John Wiley & Sons Inc.

Ämne

  • Medical Genetics

Nyckelord

  • 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

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1059-7794