The Bloom's syndrome helicase is critical for development and function of the alphabeta T-cell lineage

Mol Cell Biol. 2007 Mar;27(5):1947-59. doi: 10.1128/MCB.01402-06. Epub 2007 Jan 8.

Abstract

Bloom's syndrome is a genetic disorder characterized by increased incidence of cancer and an immunodeficiency of unknown origin. The BLM gene mutated in Bloom's syndrome encodes a DNA helicase involved in the maintenance of genomic integrity. To explore the role of BLM in the immune system, we ablated murine Blm in the T-cell lineage. In the absence of Blm, thymocytes were severely reduced in numbers and displayed a developmental block at the beta-selection checkpoint that was partially p53 dependent. Blm-deficient thymocytes rearranged their T-cell receptor (TCR) beta genes normally yet failed to survive and proliferate in response to pre-TCR signaling. Furthermore, peripheral T cells were reduced in numbers, manifested defective homeostatic and TCR-induced proliferation, and produced extensive chromosomal damage. Finally, CD4(+) and CD8(+) T-cell responses were impaired upon antigen challenge. Thus, by ensuring genomic stability, Blm serves a vital role for development, maintenance, and function of T lymphocytes, suggesting a basis for the immune deficiency in Bloom's syndrome.

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adenosine Triphosphatases / metabolism*
  • Alleles
  • Animals
  • Cell Lineage*
  • Cells, Cultured
  • Chromosome Aberrations
  • DNA Helicases / genetics
  • DNA Helicases / metabolism*
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • RecQ Helicases
  • Receptors, Antigen, T-Cell, alpha-beta / metabolism*
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism*
  • Thymus Gland / cytology

Substances

  • Receptors, Antigen, T-Cell, alpha-beta
  • Adenosine Triphosphatases
  • Bloom syndrome protein
  • DNA Helicases
  • RecQ Helicases