Rearrangement of antigen receptor genes is defective in mice with severe combined immune deficiency

Cell. 1986 Sep 26;46(7):963-72. doi: 10.1016/0092-8674(86)90695-1.


A process unique to lymphocyte differentiation is the rearrangement of genes encoding antigen-specific receptors on B and T cells. A mouse mutant (C.B-17scid) with severe combined immune deficiency, i.e., that lacks functional B and T cells, shows no evidence of such gene rearrangements. However, rearrangements were detected in Abelson murine leukemia virus-transformed bone marrow cells and in spontaneous thymic lymphomas from C.B-17scid mice. Most of these rearrangements were abnormal: approximately 80% of Igh rearrangements deleted the entire Jh region, and approximately 60% of TCR beta rearrangements deleted the entire J beta 2 region. The deletions appeared to result from faulty D-to-J recombination. No such abnormal rearrangements were detected in transformed tissues from control mice. The scid mutation may adversely affect the recombinase system catalyzing the assembly of antigen receptor genes in developing B and T lymphocytes.

Publication types

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

MeSH terms

  • Abelson murine leukemia virus
  • Animals
  • Cell Transformation, Viral
  • Chromosome Deletion
  • DNA Nucleotidyltransferases / genetics
  • Immunoglobulin Heavy Chains / genetics*
  • Immunologic Deficiency Syndromes / genetics*
  • Lymphoma / genetics
  • Mice
  • Mutation
  • Receptors, Antigen, B-Cell / genetics*
  • Receptors, Antigen, T-Cell / genetics*
  • Thymus Gland
  • VDJ Recombinases


  • Immunoglobulin Heavy Chains
  • Receptors, Antigen, B-Cell
  • Receptors, Antigen, T-Cell
  • DNA Nucleotidyltransferases
  • VDJ Recombinases