Characterization of a candidate locus for malaria susceptibility in human populations: A (TA)n microsatellite in the promoter region of the CYBB gene, the gp91phox subunit of the NADPH oxidase

International Journal of Immunogenetics

Volumn 35, Issue 2, 2008, Pages 107-109

  Soares Souza, G B ^a,b   Tarazona Santos, E ^a,c   Chanock, S J ^c  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b FUNDAÇÃO HEMOMINAS   (Brazil)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P22; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2;

ARTICLE; CYBB GENE; DISEASE PREDISPOSITION; DISEASE SEVERITY; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; GENETIC EPIDEMIOLOGY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALARIA; MALE; MICROSATELLITE MARKER; MOLECULAR GENETICS; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

DINUCLEOTIDE REPEATS; EPIDEMIOLOGY, MOLECULAR; FEMALE; HUMANS; LINKAGE DISEQUILIBRIUM; MALARIA; MALE; MEMBRANE GLYCOPROTEINS; NADPH OXIDASE; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI;

EID: 40449140531     PISSN: 17443121     EISSN: 1744313X     Source Type: Journal    
DOI: 10.1111/j.1744-313X.2008.00750.x     Document Type: Article

References (13)

1. Bayele, H.K., Peyssonnaux, C., Giatromanolaki, A., Arrais-Silva, W.W., Mohamed, H.S., Collins, H. et al 2007) HIF-1 regulates heritable variation and allele expression phenotypes of the macrophage immune response gene SLC11A1 from a Z-DNA-forming microsatellite. Blood, 110, 3039.
2. Buckley, R.H. (2004) Pulmonary complications of primary immunodeficiencies. Paediatric Respiratory Reviews, 5 (Suppl. A S225.
3. Catt, D., Hawkins, S., Roman, A., Luo, W. Skalnik, D.G. (1999) Overexpression of CCAAT displacement protein represses the promiscuously active proximal gp91 (phox) promoter. Blood, 94, 3151.
4. Chanock, S.J., el Benna, J., Smith, R.M. Babior, B.M. (1994) The respiratory burst oxidase. Journal of Biological Chemistry, 269, 245192.
5. Ellegren, H. (2004) Microsatellites: simple sequences with complex evolution. Nature Reviews Genetics, 5, 435.
6. Eskdale, J., Gallagher, G., Verweij, C.L., Keijsers, V., Westendorp, R.G. Huizinga, T.W. (1998) Interleukin 10 secretion in relation to human IL-10 locus haplotypes. Proceedings of the National Academy of Sciences USA, 95, 9465.
7. Fujii, Y., Kumatori, A. Nakamura, M. (2003) SATB1 makes a complex with p300 and represses gp91 (phox) promoter activity. Microbiology and Immunology, 47, 803.
8. Greve, B., Kremsner, P.G., Lell, B., Luckner, D. Schmid, D. (2000) Malarial anaemia in African children associated with high oxygen-radical production. Lancet, 355, 40.
9. Heyworth, P.G., Cross, A.R. Curnutte, J.T. (2003) Chronic granulomatous disease. Current Opinion in Immunology, 15, 578.
10. Heyworth, P.G., Curnutte, J.T., Rae, J., Noack, D., Roos, D., van Koppen, E. Cross, A.R. (2001) Hematologically important mutations: X-linked chronic granulomatous disease (second update). Blood Cells, Molecules and Diseases, 2711, 16.
11. Sokolowska, M., Borowiec, M., Ptasinska, A., Cieslak, M., Shelhamer, J.H., Kowalski, M.L. Pawliczak, R. (2007) 85-kDa cytosolic phospholipase A(2) group IValpha gene promoter polymorphisms in patients with severe asthma: a gene expression and case-control study. Clinical and Experimental Immunology, 150 (1), 124.
12. Tarazona-Santos, E., Bernig, T., Burdett, L., Magalhães, W.C.S., Fabbri, C., Liao, J., Redondo, R.A., Welch, R., Yeager, M. Chanock, S.J. (2008) CYBB, a NADPH-oxidase coding gene: restricted diversity in humans and evidence for differential long term purifying selection on trans-membrane and cytosolic domains. Human Mutation (in press).
13. Uhlemann, A.C., Szlezak, N.A., Vonthein, R., Tomiuk, J., Emmer, S.A., Lell, B., Kremsner, P.G. Kun, J.F. (2004) DNA phasing by TA dinucleotide microsatellite length determines in vitro and in vivo expression of the gp91phox subunit of NADPH oxidase and mediates protection against severe malaria. Journal of Infectious Diseases, 189, 2227.