Loss- and gain-of-function mutations reveal an important role of BSAP (Pax-5) at the start and end of B cell differentiation

Semin Immunol. 1998 Apr;10(2):133-42. doi: 10.1006/smim.1998.0115.

Abstract

Pax-5 codes for the transcription factor BSAP which is expressed throughout B cell development except in terminally differentiated plasma cells. Gene targeting experiments in the mouse revealed a differential dependency of fetal and adult B-lymphopoiesis on this transcription factor. BSAP is required for B-lineage commitment in the fetal liver and for progression beyond an early pro-B cell stage in adult bone marrow. The characterization of Pax-5-deficient pro-B cells demonstrated an important role of BSAP in the regulation of the CD19, mb-1 (Ig alpha) and N-myc genes as well as in the developmental pathway controlling VH-to-DHJH recombination at the immunoglobulin heavy-chain (IgH) locus. The human PAX-5 gene was recently shown to participate together with the IgH locus in the chromosomal translocation t(9;14)(p13;q32). This translocation is characteristic of a small subset of non-Hodgkin lymphomas exhibiting plasmacytoid differentiation. The translocated PAX-5 gene is deregulated by the insertion of IgH regulatory elements into its 5' region, which may contribute to tumorigenesis by interfering with the shut-down of PAX-5 transcription and thus with the completion of plasma cell differentiation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Animals
  • B-Lymphocytes / cytology*
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / physiology*
  • Down-Regulation
  • Gene Expression Regulation
  • Gene Expression Regulation, Neoplastic
  • Gene Rearrangement, B-Lymphocyte
  • Genes, Immunoglobulin
  • Humans
  • Immunoglobulin Heavy Chains / genetics
  • Leukopoiesis / physiology*
  • Liver / embryology
  • Lymphoma, Non-Hodgkin / genetics
  • Mice
  • Mutation
  • Nuclear Proteins / genetics
  • Nuclear Proteins / physiology*
  • PAX5 Transcription Factor
  • Transcription Factors / genetics
  • Transcription Factors / physiology*
  • Translocation, Genetic

Substances

  • DNA-Binding Proteins
  • Immunoglobulin Heavy Chains
  • Nuclear Proteins
  • PAX5 Transcription Factor
  • PAX5 protein, human
  • Pax5 protein, mouse
  • Transcription Factors