Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease

Blood

Volumn 95, Issue 6, 2000, Pages 2150-2156

  Roesler, Joachim ^b   Curnutte, John T ^a   Rae, Julie ^b   Barrett, David ^b   Patino, Pablo ^b   Chanock, Stephen J ^b   Goerlach, Agnes ^b  

^a GENENTECH INC   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE DELETION; GENE SEQUENCE; GENETIC RECOMBINATION; HUMAN; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

EID: 0034653483     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v95.6.2150     Document Type: Article

References (34)

1. Babior BM, Kipnes RS, Curnutte JT. Biological defense mechanisms: the production by leukocytes of superoxide, a potential bactericidal agent. J Clin Invest. 1973;52:741.
2. Cross AR, Jones OTG. Enzymic mechanisms of superoxide production. Biochim Biophys Acta. 1991;853:65.
3. Clark RA, Volpp BD, Leidal KG, Nauseef WM. Two cytosolic components of the human neutrophil respiratory burst oxidase translocate to the plasma membrane during cell activation. J Clin Invest. 1990;85:714.
4. Heyworth PG, Curnutte JT, Nauseef WM. Neutrophil nicotinamide adenine dinucleotide phosphate (reduced form) oxidase assembly: translocation of p47-pnox and p67-phox requires interaction between p47-phox and cytochrome b558. J Clin Invest. 1991;87:352.
5. Leto TL, Adams AG, De Mendez I. Assembly of the phagocyte NADPH oxidase: binding of src homology 3 domains to proline rich targets. Proc Nat Acad Sci U S A. 1994;91:10,650.
6. DeLeo FR, Quinn M. Assembly of the phagocyte NADPH oxidase: molecular interaction of oxidase proteins. J Leukoc Biol. 1996;60:677.
7. Leusen JHW, Verhoeven AJ, Roos D. Interactions between the components of the human NADPH oxidase: intrigues in the phox family. J Lab Clin Med. 1996;128:461.
8. Cross AR, Curnutte JT. The cytosolic activation factors p47-phox and p67-phox have distinct roles in the regulation of electron flow in NADPH oxidase. J Biol Chem. 1995;270:6543.
9. Knaus UG, Heyworth PG, Evans T, Curnutte JT, Bokoch GM. Rac 2 is a regulator of phagocyte oxygen radical production. Science. 1991;254: 1512.
10. Wientjes FB, Hsuan JJ, Totty NF, Segal AW. p40-phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains. Biochem J. 1993;296: 557.
11. Sathyamoorthy M, De Mendez I, Adams AG, Leto TL. p40-phox down-regulates NADPH oxidase activity through interactions with its SH3 domain. J Biol Chem. 1997;272:9141.
12. Curnutte JT. Chronic granulomatous disease: The solving of a clinical riddle at the molecular level [review]. Clin Immunol Immunopathol. 1993;67(part2):S2.
13. Roos D, de Boer M, Kuribayashi F. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood. 1996;87: 166.
14. Thrasher AJ, Keep NH, Wientjes F, Segal AW. Chronic granulomatous disease. Biochem Biophys Acta. 1994;1227:1.
15. Fisher A, Segal AW, Seger RA, Weening RS. The management of chronic granulomatous disease. Eur J Pediatr. 1993;15:896.
16. Dinauer MC. The respiratory burst oxidase and the molecular genetics of chronic granulomatous disease. Crit Rev Clin Lab Sci. 1993;30:329.
17. Roos D, Curnutte JT, Hossle JP. X-CGDbase: a database of X-CGD-causing mutations. Immunol Today. 1996;17:517.
18. Cross AR, Curnutte JT, Rae J, Heyworth PG. Hematologically important mutations: X-linked chronic granulomatous disease. Blood Cells Mol Dis. 1996;22:90.
19. Casimir CM, Bu-Ghanuim HN, Rosaway ARF, Bentley DL, Rowe P, Segal AW. Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. Proc Natl Acad Sci U S A. 1993;88:2753.
20. Volpp BD, Lin Y. In vitro reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. J Clin Invest. 1993;91:210.
21. Iawata M, Nunoi H, Yamzaki H. Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency. Biochem Biophys Res Comm. 1994;199:1372.
22. Goerlach A, Lee PL, Roesler J. A p47-phox pseudogene carries the most common mutation causing p47-phox deficient chronic granulomatous disease. J Clin Invest. 1997;100:1907.
23. Hockenhull EL, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M. A complete physical contig and partial transcript map of Williams syndrome critical region. Genomics. 1999;58:138.
24. Krawzak M, Cooper DN. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet. 1991;86:425.
25. Kourilsky P. Molecular mechanisms for gene conversion in higher cells. Trends Genet. 1986;2:60.
26. Helmberg A. Twin genes and endocrine disease: CYP21 and CYP11B genes. Acta Endocrinologica. 1993;129:97.
27. Eikenboom JCJ, Vink T, Briet E, Sixma JJ, Reitsma PH. Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence. Proc Natl Acad Sci U S A. 1994;91: 2221.
28. Beutler E. Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci U S A. 1993;90:5384.
29. Bondeson ML, Dahl N, Malmgren H. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet. 1995;4:615.
30. Collier S, Tassabehij M, Strachnan T. A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversions in the human genome. Nature Genetics. 1993;3:260.
31. Liskay RM, Letsou A, Stachelek JL. Homology requirement for efficient gene conversion between duplicated chromosomal segments in mammalian cells. Genetics. 1987;115:161.
32. Smith GR. Hotspots of homologous recombination. Experientia. 1994;50:234.
33. Jeffreys AJ, Wilson V, Thein SL. Hypervariable "minisatellite" regions in human DNA. Nature. 1985;314:67.
34. Lehrmann MA, Russel DW, Goldstein JL, Brown MS. Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. J Biol Chem. 1987;262:3354.