SLP65 deficiency results in perpetual V(D)J recombinase activity in pre-B-lymphoblastic leukemia and B-cell lymphoma cells

Oncogene. 2006 Aug 24;25(37):5180-6. doi: 10.1038/sj.onc.1209520. Epub 2006 Apr 24.

Abstract

Perpetual V(D)J recombinase activity involving multiple DNA double-strand break events in B-cell lineage leukemia and lymphoma cells may introduce secondary genetic aberrations leading towards malignant progression. Here, we investigated defective negative feedback signaling through the (pre-) B-cell receptor as a possible reason for deregulated V(D)J recombinase activity in B-cell malignancy. On studying 28 cases of pre-B-lymphoblastic leukemia and 27 B-cell lymphomas, expression of the (pre-) B-cell receptor-related linker molecule SLP65 (SH2 domain-containing lymphocyte protein of 65 kDa) was found to be defective in seven and five cases, respectively. SLP65 deficiency correlates with RAG1/2 expression and unremitting V(H) gene rearrangement activity. Reconstitution of SLP65 expression in SLP65-deficient leukemia and lymphoma cells results in downregulation of RAG1/2 expression and prevents both de novo V(H)-DJ(H) rearrangements and secondary V(H) replacement. We conclude that iterative V(H) gene rearrangement represents a frequent feature in B-lymphoid malignancy, which can be attributed to SLP65 deficiency in many cases.

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Base Sequence
  • Burkitt Lymphoma / enzymology
  • Burkitt Lymphoma / genetics*
  • Carrier Proteins / genetics*
  • Cell Line, Tumor
  • DNA Damage
  • Gene Rearrangement
  • Genes, Immunoglobulin
  • Humans
  • Lymphoma, B-Cell / genetics*
  • Molecular Sequence Data
  • Phosphoproteins / deficiency*
  • Phosphoproteins / genetics*
  • Sequence Deletion
  • VDJ Recombinases / genetics
  • VDJ Recombinases / metabolism*

Substances

  • Adaptor Proteins, Signal Transducing
  • B cell linker protein
  • Carrier Proteins
  • Phosphoproteins
  • VDJ Recombinases