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Cited by 39Neutrophil, Myeloperoxidase and Oxidative MechanismsImmunodeficiency and Autoimmune DisordersGenomics and Chromatin Dynamics

The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.

Elf‐1 and PU.1 Induce Expression of gp91phox via a Promoter Element Mutated in a Subset of Chronic Granulomatous Disease Patients

Voo, Kui Shin, Skalnik, David G.·1999·Blood
DOI 10.1182/blood.v93.10.3512.410k19_3512_3520
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Abstract

The cytochrome b heavy chain (gp91(phox)) is the redox center of the NADPH-oxidase and is highly expressed in mature myeloid cells. Point mutations at -57, -55, -53, and -52 bp of the gp91(phox) promoter have been detected in patients with chronic granulomatous disease (CGD; Newburger et al, J Clin Invest 94:1205, 1994; and Suzuki et al, Proc Natl Acad Sci USA 95:6085, 1998). We report that Elf-1 and PU. 1, ets family members highly expressed in myeloid cells, bind to this promoter element. Either factor trans-activates the -102 to +12 bp gp91(phox) promoter when overexpressed in nonhematopoietic HeLa cells or the PLB985 myeloid cell line. However, no synergy of gp91(phox) promoter activation occurs when both Elf-1 and PU.1 are overexpressed. Introduction of the -57 bp or -55 bp CGD mutations into the gp91(phox) promoter significantly reduces the binding affinity of Elf-1 and PU.1 and also reduces the ability of these factors to trans-activate the promoter. These results indicate that Elf-1 and PU.1 contribute to directing the lineage-restricted expression of the gp91(phox) gene in phagocytes and that failure of these factors to effectively interact with this promoter results in CGD.

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Metadata

Authors
Voo, K. S., & Skalnik, D. G.
Affiliations
Indiana University Indianapolis (US)
Venue
Blood
Publisher
American Society of Hematology
Published
1999-05-15
Volume
93
Issue
10
Pages
3512-3520
ISSN
  • 0006-4971 (ISSN-L)
  • 1528-0020
DOI
10.1182/blood.v93.10.3512.410k19_3512_3520
OpenAlex
W230850248
Cited by
39
References
5
Citations by year
2026: 2 · 2025: 2 · 2020: 1 · 2017: 1 · 2013: 1 · 2012: 1
FWCI
1.48
Type
journal article
Language
en
Open access
closed
Locations
  • Blood (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Cancer Institute (CA58947)
Topics
  • Life Sciences › Immunology and Microbiology › Immunology › Neutrophil, Myeloperoxidase and Oxidative Mechanisms
  • Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Keywords
ELF1, PU.1, gp91phox, chronic granulomatous disease, NADPH oxidase, promoter mutations, ETS transcription factors, phagocytes
MeSH terms
NADPH Oxidase 2, Proto-Oncogene Protein Spi-1, Base Sequence, Binding Sites, Granulomatous Disease, Chronic, HeLa Cells, Humans, Kinetics, Membrane Glycoproteins, Promoter Regions, Genetic, Proto-Oncogene Proteins, Recombinant Proteins, Transcription Factors, Transfection, Transcriptional Activation, Trans-Activators, Mutagenesis, Site-Directed, Glycosylphosphatidylinositols, Jurkat Cells, NADPH Oxidases, K562 Cells, U937 Cells, Ephrin-A2

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