A BAFF-R mutation associated with non-Hodgkin lymphoma alters TRAF recruitment and reveals new insights into BAFF-R signaling

J Exp Med. 2010 Nov 22;207(12):2569-79. doi: 10.1084/jem.20100857. Epub 2010 Nov 1.

Abstract

The cytokine B cell activating factor (BAFF) and its receptor, BAFF receptor (BAFF-R), modulate signaling cascades critical for B cell development and survival. We identified a novel mutation in TNFRSF13C, the gene encoding human BAFF-R, that is present in both tumor and germline tissue from a subset of patients with non-Hodgkin lymphoma. This mutation encodes a His159Tyr substitution in the cytoplasmic tail of BAFF-R adjacent to the TRAF3 binding motif. Signaling through this mutant BAFF-R results in increased NF-κB1 and NF-κB2 activity and increased immunoglobulin production compared with the wild-type (WT) BAFF-R. This correlates with increased TRAF2, TRAF3, and TRAF6 recruitment to His159Tyr BAFF-R. In addition, we document a requirement for TRAF6 in WT BAFF-R signaling. Together, these data identify a novel lymphoma-associated mutation in human BAFF-R that results in NF-κB activation and reveals TRAF6 as a necessary component of normal BAFF-R signaling.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Amino Acid Sequence
  • B-Cell Activation Factor Receptor / genetics*
  • Cell Line
  • Humans
  • Immunoglobulins / biosynthesis
  • Lymphoma, Non-Hodgkin / genetics*
  • Lymphoma, Non-Hodgkin / metabolism
  • Molecular Sequence Data
  • Mutation*
  • NF-kappa B / metabolism
  • Signal Transduction*
  • TNF Receptor-Associated Factor 3 / metabolism
  • TNF Receptor-Associated Factor 6 / metabolism*

Substances

  • B-Cell Activation Factor Receptor
  • Immunoglobulins
  • NF-kappa B
  • TNF Receptor-Associated Factor 3
  • TNF Receptor-Associated Factor 6
  • TNFRSF13C protein, human