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Blood, Vol. 95 No. 10 (May 15), 2000:
pp. 3223-3231
The gene for familial Mediterranean fever, MEFV, is
expressed in early leukocyte development and is regulated in response
to inflammatory mediators
Michael Centola,
Geryl Wood,
David M. Frucht,
Jerome Galon,
Martin Aringer,
Christopher Farrell,
Douglas W. Kingma,
Mitchell E. Horwitz,
Elizabeth Mansfield,
Steven M. Holland,
John J. O'Shea,
Helene F. Rosenberg,
Harry L. Malech, and
Daniel L. Kastner
From the Arthritis and Rheumatism Branch, National Institute of
Arthritis and Musculoskeletal and Skin Diseases; Laboratory of Host
Defenses, National Institute of Allergy and Infectious Diseases; and
the Laboratory of Pathology, National Cancer Institute, National
Institutes of Health, Bethesda, MD; and the Department of Rheumatology,
Internal Medicine III, University of Vienna, Austria.
Familial Mediterranean fever (FMF) is a recessive disorder
characterized by episodes of fever and neutrophil-mediated serosal inflammation. We recently identified the gene causing FMF, designated MEFV, and found it to be expressed in mature neutrophils,
suggesting that it functions as an inflammatory regulator. To
facilitate our understanding of the normal function of MEFV, we
extended our previous studies. MEFV messenger RNA was detected
by reverse transcriptase-polymerase chain reaction in bone marrow
leukocytes, with differential expression observed among cells by in
situ hybridization. CD34 hematopoietic stem-cell cultures induced
toward the granulocytic lineage expressed MEFV at the
myelocyte stage, concurrently with lineage commitment. The
prepromyelocytic cell line HL60 expressed MEFV only at
granulocytic and monocytic differentiation. MEFV was also
expressed in the monocytic cell lines U937 and THP-1. Among peripheral
blood leukocytes, MEFV expression was detected in neutrophils,
eosinophils, and to varying degrees, monocytes. Consistent with the
tissue specificity of expression, complete sequencing and analysis of
upstream regulatory regions of MEFV revealed homology to
myeloid-specific promoters and to more broadly expressed inflammatory
promoter elements. In vitro stimulation of monocytes with the
proinflammatory agents interferon (IFN)  , tumor necrosis factor, and
lipopolysaccharide induced MEFV expression, whereas the
antiinflammatory cytokines interleukin (IL) 4, IL-10, and transforming
growth factor  inhibited such expression. Induction by IFN-
occurred rapidly and was resistant to cycloheximide. IFN- also
induced MEFV expression. In granulocytes, MEFV was
up-regulated by IFN- and the combination of IFN- and colchicine.
These results refine understanding of MEFV by placing the
gene in the myelomonocytic-specific proinflammatory pathway and
identifying it as an IFN- immediate early gene.
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