A hypomorphic mutation in the Gfi1 transcriptional repressor results in a novel form of neutropenia

Eur J Immunol. 2012 Sep;42(9):2395-408. doi: 10.1002/eji.201242589.

Abstract

Using N-ethyl-N-nitrosourea-induced mutagenesis, we established a mouse model with a novel form of neutropenia resulting from a point mutation in the transcriptional repressor Growth Factor Independence 1 (Gfi1). These mice, called Genista, had normal viability and no weight loss, in contrast to mice expressing null alleles of the Gfi1 gene. Furthermore, the Genista mutation had a very limited impact on lymphopoiesis or on T- and B-cell function. Within the bone marrow (BM), the Genista mutation resulted in a slight increase of monopoiesis and in a block of terminal granulopoiesis. This block occurred just after the metamyelocytic stage and resulted in the generation of small numbers of atypical CD11b(+) Ly-6G(int) neutrophils, the nuclear morphology of which resembled that of mature WT neutrophils. Unexpectedly, once released from the BM, these atypical neutrophils contributed to induce mild forms of autoantibody-induced arthritis and of immune complex-mediated lung alveolitis. They additionally failed to provide resistance to acute bacterial infection. Our study demonstrates that a hypomorphic mutation in the Gfi1 transcriptional repressor results in a novel form of neutropenia characterized by a split pattern of functional responses, reflecting the distinct thresholds required for eliciting neutrophil-mediated inflammatory and anti-infectious responses.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antigens, Ly / genetics
  • Antigens, Ly / metabolism
  • Arthritis / genetics
  • Arthritis / metabolism
  • B-Lymphocytes / metabolism
  • Bone Marrow / metabolism
  • CD11b Antigen / genetics
  • CD11b Antigen / metabolism
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Ethylnitrosourea
  • Female
  • Inflammation / genetics
  • Inflammation / metabolism
  • Lymphocytes / metabolism
  • Lymphopoiesis / genetics
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Neutropenia / chemically induced
  • Neutropenia / genetics*
  • Neutrophils / metabolism
  • Point Mutation*
  • Repressor Proteins / genetics*
  • Repressor Proteins / metabolism
  • T-Lymphocytes / metabolism
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • Transcription, Genetic

Substances

  • Antigens, Ly
  • CD11b Antigen
  • DNA-Binding Proteins
  • Gfi1 protein, mouse
  • Ly6G antigen, mouse
  • Repressor Proteins
  • Transcription Factors
  • Ethylnitrosourea