A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria

Nature Genetics

Volumn 22, Issue 2, 1999, Pages 145-150

  Knight, Julian C ^a   Udalova, Irina ^a   Hill, Adrian V S ^a   Greenwood, Brian M ^b   Peshu, Norbert ^c   Marsh, Kevin ^c   Kwiatkowski, Dominic ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^c GLAXOSMITHKLINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HELIX LOOP HELIX PROTEIN; TUMOR NECROSIS FACTOR;

ARTICLE; BRAIN MALARIA; CHILD; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA FOOTPRINTING; DNA POLYMORPHISM; GENE CONTROL; GENETIC LINKAGE; GENETIC VARIABILITY; HLA SYSTEM; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DNA BINDING; PROTEIN EXPRESSION;

EID: 0032993434     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/9649     Document Type: Article

References (39)

1. Wilson, A.G. et al. An allelic polymorphism within the human tumor factor α promoter region is strongly associated with HLA A1, B8 and DR3 alleles. J. Exp. Med. 177, 557-560 (1993).
2. D'Alfonso, S. & Richiardi, P.M. A polymorphic variation in a putative regulation box of the TNFA promoter region, Immunogenetics 39, 150-154 (1994).
3. Hamann, A., Mantzoros, C., Vidal-Puig, A. & Flier, J.S. Genetic variability in the TNF-α promoter is not associated with type II diabetes mellitus (NIDDM). Biochem. Biophys. Res. Commun. 211, 833-639 (1995).
4. McGuire, W., Hill, A.V.S., Allsopp, C.E.M., Greenwood, B.M. & Kwiatkowski, D. Variation in the TNF-α promoter region associated with susceptibility to cerebral malaria. Nature 371, 508-511 (1994).
5. Cabrera, M. et al. Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis. J. Exp. Med. 182, 1259-1264 (1995).
6. Nadel, S., Newport, M.J., Booy, R. & Levin, M. Variation in the tumor necrosis factor-α gene promoter region may be associated with death from meningococcal disease. J. Infect. Dis. 174, 878-880 (1996).
7. Roy, S. et al. Tumor necrosis factor promoter polymorphism and susceptibility to lepromatous leprosy. J. Infect. Dis. 176, 530-532 (1997).
8. Conway, D.J. et al. Scarring trachoma is associated with polymorphism in the tumor necrosis factor a (TNF-α) gene promoter and with elevated TNF-α levels in tear fluid. Infect. Immun. 65, 1003-1006 (1997).
9. Moffatt, M.F. & Cookson, W.O.C.M. Tumour necrosis factor haplotypes and asthma. Hum. Mol. Genet. 6, 551-554 (1997).
10. Wilson, A.G., Symons, J.A., McDowell, T.L., McDevitt, H.O. & Duff, G.W. Effects of a polymorphism in the human tumor necrosis factor α promoter on transcriptional activation. Proc. Natl Acad. Sci. USA 94, 3195-3199 (1997).
11. Brinkman, B.M.N., Zuijdgeest D., Kaigzel, E.L., Breedveld, F.C. & Verweij, C.L. Relevance of the tumor necrosis factor α-308 promoter polymorphism in TNF α gene regulation. J. inflamm. 46, 32-41 (1996).
12. Ziegler-Heitbrock, H.W.L. et al. Establishment of a human cell line (MonoMac 6) with characteristics of mature monocytes. Int. J. Cancer 41, 456-461 (1988).
13. Fletcher, C., Heintz, N. & Roeder, R.G. Purification and characterization of OTF-1, a transcription factor regulating cell cycle expression of a human histone H2b gene. Cell 51, 773-781 (1987).
14. Herr, W. & Cleary, M.A. The POU domain: versatility in transcriptional regulation by a flexible two-in-one DNA-binding domain. Genes Dev. 9, 1679-1693 (1995).
15. Clark, I.A. Cell-mediated immunity in protection and pathology of malaria. Parasitol. Today 3, 300-305 (1987).
16. Kwiatkowski, D. Malarial toxins and the regulation of parasite density. Parasitol. Today 11, 206-212 (1995).
17. Grau, G.E. et al. Tumor necrosis factor (cachectin) as an essential mediator in murine cerebral malaria. Science 237, 1210-1212 (1987).
18. Grau, G.E. et al. Tumor necrosis factor and disease severity in children with falciparum malaria. W. Engl. J. Med. 320, 1586-1591 (1989).
19. Hill, A.V.S. et al. Common West African HLA antigens are associated with protection from severe malaria. Nature 352, 595-600 (1991).
20. Brinkman, B.M.N., Keet, I.P.M., Miedema, F., Verweij, C.L. & Klein, M.R. Polymorphisms within the human tumor necrosis factor-α promoter region in human immunodeficiency virus type-1 seropositive persons. J. Infect Dis. 175, 188-190 (1997).
21. Kaushansky, K., Shoemaker, S.G., O'Rork, C.A. & McCarty, J.M. Coordinate regulation of multiple human lymphokine genes by Oct-1 and potentially novel 45 and 43 kDa polypeptides. J. Immunol. 152, 1812-1820 (1994).
22. Wu, G.D., Lai, E.J., Huang, N. & Wen, X. Ort-1 and CCAAT/enhancer-binding protein (C/EBP) bind to overlapping elements within the interleukin-8 promoter. The role of Oct-1 as a transcriptional represser. J. Biol. Chem. 272, 2396-2403 (1997).
23. Berendt, A.R., Simmons, D.L., Tansey, J., Newbold, C.I. & Marsh, K. Intercellular adhesion molecule 1 is an endothelial cell adhesion receptor for flasmodium falciparum. Nature 341, 57-59 (1989).
24. Newbold, C. et al. Receptor-specific adhesion and clinical disease in Plasmodium falciparum. Am. J. Trop. Med. Hyg. 57, 389-398 (1997).
25. Fong, C.W., Siddiqui, A.H. & Mark, D.F. Identification and characterisation of a novel repressor site in the human tumor necrosis factor α gene. Nucleic Acids Res. 22, 1108-1114 (1994).
26. Brinkman, B.M.N. et al. Tumour necrosis factor α gene polymorphisms in rheumatoid arthritis: association with susceptibility to, or severity of, disease. Br. J. Rheumatol. 36, 516-521 (1997).
27. Hohler, T. et al. A TNF-α promoter polymorphism is associated with juvenile onset psoriasis and psoriatic arthritis. J. Invest. Dermatol. 109, 562-565 (1997).
28. Zuckerkandl, E. Neutral and nonneutral mutations: the creative mix - evolution of complexity in gene interaction systems. J. Mol. Evol. 44, S2-S8 (1997).
29. Udalova, I.A., Knight J.C., Vidai, V., Nedospasov, S.A. & Kwiatkowski, D. Complex NF-κB interactions at the distal tumor necrosis factor promoter region in human monocytes. J. Biol. Chem. 273, 21178-21186 (1998).
30. Schreiber, E., Matthias, P., Muller, M. & Schaffner, W. Rapid detection of octamer binding proteins with 'mini-extracts', prepared from a small number of cells. Nucleic Acids Res. 17, 6419 (1989).
31. Sandaltzopoulos, R. & Becker, R.B. Solid phase DNase I footprinting: quick and versatile. Nucleic Acids Res. 22, 1511-1515 (1994).
32. Hansen, S.K. et al. A novel complex between the p65 subunit of NF-κB and c-rel binds to a DNA element involved in phorbol ester induction of the human urokinase gene. EMBO J. 11, 205-213 (1992).
33. Nordeen, S.K. Luciferase reporter gene vectors for analysis of promoters and enhancers. BioTechniques 6, 454-458 (19B8).
34. Udalova, I.A., Turetskaya, R.L., Kuprash, D.V. & Nedospasov, S.A. Two-step activation of human TNF gene transcription in macrophages. Role of NF-κB/Rel family members in LPS activation. Dokl. Acad. Nauk 342, 413-417 (1995).
35. Stuber, F. et al. -308 tumor necrosis factor (TNF) polymorphism is not associated with survival in severe sepsis and is unrelated to lipopolysaccharide inducibility of the human TNF promoter. J. Inflamm. 46, 42-50 (1996).
36. Shakhov, A.N., Collart, M.A., Vassalli, P., Nedospasov, S.A. & Jongeneel, C.V. κB-type enhancers are involved in lipopolysaccharide-mediated transcriptional activation of the tumor necrosis factor α gene in primary macrophages. J. Exp. Med. 171, 35-47 (1990).
37. Snow, R.W. et al. Periodicity and space-time clustering of severe malaria on the coast of Kenya. Trans. R. Soc. Trop. Med. Hyg. 87, 386-390 (1993).
38. Molyneux, M.E., Taylor, T.E., Wirima, J.J. & Borgstein, A. Clinical features and prognostic indicators in paediatric cerebral malaria: a study of 131 comatose Malawian children. Q. J. Med. 71, 441-459 (1989).
39. Lewontin, R.C. The interaction of selection and linkage. General considerations: heterotic models. Genetics 49, 49-67 (1964).