Genes for Two Autosomal Recessive Forms of Chronic Granulomatous Disease Assigned to 1q25 (NCF2) and 7q11.23 (NCF1)

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1990 Sep 1

PMID 2393022

Citations 20

Authors

U Francke

C L Hsieh

B E Foellmer

K J Lomax

H L Malech

T L Leto

Affiliations

Soon will be listed here.

Abstract

Chronic granulomatous disease (CGD) is a heterogeneous group of inherited disorders of impaired superoxide production in phagocytes. The most common X-linked recessive form involves the CYBB locus in band Xp21.1 that encodes the membrane-bound beta subunit of the cytochrome b558 complex. Two autosomal recessive forms of CGD result from defects in cytosolic components of the phagocyte NADPH oxidase system, p47phox (NCF1) and p67phox (NCF2). By using human cDNA probes we have mapped the genes for these proteins to chromosomal sites. The combined data from Southern analysis of somatic cell hybrid lines and chromosomal in situ hybridization localize NCF1 to 7q11.23 and NCF2 to band 1q25. The NCF1 localization corrects an erroneous preliminary assignment to chromosome 10. In the mouse, the locus corresponding to NCF2 (Ncf-2) was mapped with somatic cell hybrid panels and recombinant inbred strains to mouse chromosome 1 near Xmv-21 within a region of conserved homology with human chromosome 1 region q21-q32. A second site, probably a processed pseudogene, was identified on mouse chromosome 13.

Citing Articles

Clinical, Immunological, and Molecular Findings of Patients with p47 Defect Chronic Granulomatous Disease (CGD) in Indian Families.

Kulkarni M, Desai M, Gupta M, Dalvi A, Taur P, Terrance A J Clin Immunol. 2016; 36(8):774-784.

PMID: 27699571 DOI: 10.1007/s10875-016-0333-y.

Functional pseudogenes inhibit the superoxide production.

Xu W, Ma L, Li W, Brunson T, Tian X, Richards J Precis Med. 2015; 1(1).

PMID: 26086043 PMC: 4467915.

Regulation of CDX4 gene transcription by HoxA9, HoxA10, the Mll-Ell oncogene and Shp2 during leukemogenesis.

Bei L, Shah C, Wang H, Huang W, Platanias L, Eklund E Oncogenesis. 2014; 3:e135.

PMID: 25531430 PMC: 4275563. DOI: 10.1038/oncsis.2014.49.

Molecular identification of bacterial DNA in the chorioretinal scars of chronic granulomatous disease.

Wang Y, Marciano B, Shen D, Bishop R, Park S, Holland S J Clin Immunol. 2013; 33(5):917-24.

PMID: 23636897 PMC: 3696350. DOI: 10.1007/s10875-013-9899-9.

NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2.

Muise A, Xu W, Guo C, Walters T, Wolters V, Fattouh R Gut. 2011; 61(7):1028-35.

PMID: 21900546 PMC: 3806486. DOI: 10.1136/gutjnl-2011-300078.

References

Hsieh C, Sturm R, Herr W, Francke U . The gene for the ubiquitous octamer-binding protein Oct-1 is on human chromosome 1, region cen-q32, and near Ly-22 and Ltw-4 on mouse chromosome 1. Genomics. 1990; 6(4):666-72. DOI: 10.1016/0888-7543(90)90502-l. View

Leto T, Lomax K, Volpp B, Nunoi H, Sechler J, Nauseef W . Cloning of a 67-kD neutrophil oxidase factor with similarity to a noncatalytic region of p60c-src. Science. 1990; 248(4956):727-30. DOI: 10.1126/science.1692159. View

Segal A, Cross A, Garcia R, Borregaard N, Valerius N, Soothill J . Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance. N Engl J Med. 1983; 308(5):245-51. DOI: 10.1056/NEJM198302033080503. View

Francke U . Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet. 1984; 38(4):298-307. DOI: 10.1159/000132078. View

Joyner A, Lebo R, Kan Y, Tjian R, Cox D, Martin G . Comparative chromosome mapping of a conserved homoeo box region in mouse and human. Nature. 1985; 314(6007):173-5. DOI: 10.1038/314173a0. View

Weening R, Corbeel L, de Boer M, Lutter R, van Zwieten R, Hamers M . Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization. J Clin Invest. 1985; 75(3):915-20. PMC: 423624. DOI: 10.1172/JCI111792. View

Francke U, Ochs H, de Martinville B, Giacalone J, Lindgren V, Disteche C . Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet. 1985; 37(2):250-67. PMC: 1684578. View

Royer-Pokora B, Kunkel L, Monaco A, Goff S, Newburger P, Baehner R . Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature. 1986; 322(6074):32-8. DOI: 10.1038/322032a0. View

Munke M, Cox D, JACKSON I, Hogan B, Francke U . The murine Hox-2 cluster of homeo box containing genes maps distal on chromosome 11 near the tail-short (Ts) locus. Cytogenet Cell Genet. 1986; 42(4):236-40. DOI: 10.1159/000132284. View

10.

Kruh G, King C, Kraus M, Popescu N, Amsbaugh S, McBride W . A novel human gene closely related to the abl proto-oncogene. Science. 1986; 234(4783):1545-8. DOI: 10.1126/science.3787260. View

11.

Francke U, Yang-Feng T, Brissenden J, Ullrich A . Chromosomal mapping of genes involved in growth control. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 2:855-66. DOI: 10.1101/sqb.1986.051.01.099. View

12.

Dinauer M, Orkin S, Brown R, Jesaitis A, Parkos C . The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature. 1987; 327(6124):717-20. DOI: 10.1038/327717a0. View

13.

Teahan C, Rowe P, Parker P, Totty N, Segal A . The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245. Nature. 1987; 327(6124):720-1. DOI: 10.1038/327720a0. View

14.

Parkos C, Allen R, Cochrane C, Jesaitis A . Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000. J Clin Invest. 1987; 80(3):732-42. PMC: 442297. DOI: 10.1172/JCI113128. View

15.

Leto T, Barton D, Yang-Feng T, Francke U, Harris A, Morrow J . Comparison of nonerythroid alpha-spectrin genes reveals strict homology among diverse species. Mol Cell Biol. 1988; 8(1):1-9. PMC: 363070. DOI: 10.1128/mcb.8.1.1-9.1988. View

16.

Okamura N, Curnutte J, Roberts R, Babior B . Relationship of protein phosphorylation to the activation of the respiratory burst in human neutrophils. Defects in the phosphorylation of a group of closely related 48-kDa proteins in two forms of chronic granulomatous disease. J Biol Chem. 1988; 263(14):6777-82. View

17.

Caldwell S, McCall C, Hendricks C, Leone P, Bass D, McPhail L . Coregulation of NADPH oxidase activation and phosphorylation of a 48-kD protein(s) by a cytosolic factor defective in autosomal recessive chronic granulomatous disease. J Clin Invest. 1988; 81(5):1485-96. PMC: 442581. DOI: 10.1172/JCI113480. View

18.

Parkos C, Dinauer M, Walker L, Allen R, Jesaitis A, Orkin S . Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b. Proc Natl Acad Sci U S A. 1988; 85(10):3319-23. PMC: 280200. DOI: 10.1073/pnas.85.10.3319. View

19.

Sechler J, Malech H, White C, Gallin J . Recombinant human interferon-gamma reconstitutes defective phagocyte function in patients with chronic granulomatous disease of childhood. Proc Natl Acad Sci U S A. 1988; 85(13):4874-8. PMC: 280539. DOI: 10.1073/pnas.85.13.4874. View

20.

Segal A . Cytochrome b-245 and its involvement in the molecular pathology of chronic granulomatous disease. Hematol Oncol Clin North Am. 1988; 2(2):213-23. View