Point mutations in the β-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease

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Abstract

The NADPH:O2 oxidoreductase of phagocytic leukocytes is an important enzyme for the bactericidal activity of these cells. Cytochrome b558 is a membrane component of this enzyme. In X-linked chronic granulomatous disease (Xb- CGD) the phagocytes are defective in the β-subunit (gp91-phox) of this cytochrome. We have studied the genetic defect in a group of six X-linked CGD patients characterized by complete or partial loss of cytochrome b558 with the use of the polymerase chain reaction. All patients had a different single point mutation in the gp91-phox gene, indicating that the genetic defect in Xb- CGD is very heterogeneous. In one patient the mutation leads to a premature termination codon. In the other five cases these mutations predict incorporation of a different amino acid. The mutations were with one exception found in the N-terminal half of the protein, suggesting that this part of cytochrome b558 is important for the binding of the heme or for formation of a stable complex with p22-phox. Two histidyl residues were found that might be ligands of the heme iron. © 1991 by The American Society of Hematology.

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Bolscher, B. G. J. M., De Boer, M., De Klein, A., Weening, R. S., & Roos, D. (1991). Point mutations in the β-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. Blood, 77(11), 2482–2487. https://doi.org/10.1182/blood.v77.11.2482.bloodjournal77112482

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