TLR4 mutations are associated with endotoxin hyporesponsiveness in humans

Nature Genetics - Tập 25 Số 2 - Trang 187-191 - 2000
Nancy C. Arbour1, Eva Lorenz2, Brian C. Schutte3, Joseph Zabner2, Joel N. Kline2, Michael Jones4, Kathy Frees2, Janet L. Watt2, David A. Schwartz2
1[1] Department of Medicine, Department of Veterans Affairs Medical Center, The University of Iowa, Iowa City, Iowa, USA.
2Department of Medicine, Department of Veterans Affairs Medical Center, The University of Iowa, Iowa City, USA
3Department of Pediatrics, Department of Veterans Affairs Medical Center, The University of Iowa, Iowa City, USA
4Department of Biostatistics, Department of Veterans Affairs Medical Center, The University of Iowa, Iowa City, USA

Tóm tắt

Từ khóa


Tài liệu tham khảo

Poltorak, A. et al. Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene. Science 282, 2085–2088 (1998).

Hoshino, K. et al. Cutting edge: toll-like receptor 4 (TLR4)-deficient mice are hyporesponsive to lipopolysacchaide: evidence for TLR4 as the Lps gene product. J. Immunol. 162, 3749–3752 (1999).

Kline, J.N. et al. Variable airway responsiveness to inhaled lipopolysaccharide. Am. J. Respir. Crit. Care Med. 160, 297–303 (1999).

Michel, O. et al. Severity of asthma is related to endotoxin in house dust. Am. J. Respir. Crit. Care Med. 154, 1641–1646 (1996).

Schwartz, D.A. et al. The role of endotoxin in grain dust-induced lung disease. Am. J. Respir. Crit. Care Med. 152, 603–608 (1995).

Schwartz, D.A. et al. Determinants of longitudinal changes in spirometric functions among swine confinement operators and farmers. Am. J. Respir. Crit. Care Med. 151, 47–53 (1995).

Bonner, J.C. et al. Induction of the lung myofibroblast PDGF receptor system by urban ambient particles from Mexico City. Am. J. Respir. Cell Mol. Biol. 19, 672–680 (1998).

Santamaria, P., Gehrz, R.C., Bryan, M.K. & Barbosa, J.J. Involvement of class II MHC molecules in the LPS-induction of IL-1/TNF secretions by human monocytes. Quantitative differences at the polymorphic level. J. Immunol. 143, 913–922 (1989).

Kuhns, D.B., Long Priel, D.A. & Gallin, J.I. Endotoxin and IL-1 hyporesponsiveness in a patient with recurrent bacterial infections. J. Immunol. 158, 3959–3964 (1997).

Chow, J.C., Young, D.W., Golenbock, D.T., Christ, W.J. & Gusovsky, F. Toll-like receptor-4 mediates lipopolysaccharide-induced signal transduction. J. Biol. Chem. 274, 10689–10692 (1999).

Shimazu, R. et al. MD-2, a molecule that confers lipopolysaccharide responsiveness on toll-like receptor 4. J. Exp. Med. 189, 1777–1782 (1999).

Medzhitov, R., Preston-Hurlburt, P. & Janeway, C.A. Jr A human homologue of the Drosophila Toll protein signals activation of adaptive immunity. Nature 388, 394–397 (1997).

Lidral, A.C. et al. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am. J. Hum. Genet. 63, 557–568 (1998).

NIH-CEPH (Collaborative Mapping Group) A comprehensive genetic linkage map of the human genome. Science 258, 67–68 (1992).

Becker, S. et al. Compartmentalization of the inflammatory response to inhaled grain dust. Am. J. Respir. Crit. Care Med. 160, 1309–1318 (1999).

Brigham, K.L. & Meyrick, B. State of the art: endotoxin and lung injury. Am. Rev. Respir. Dis. 133, 913–927 (1986).

OBrien, A.D., Rosenstreich, D.L. & Taylor, B.A. Control of natural resistance to Salmonella typhimurium and Leishmania donovani in mice by closely linked but distinct genetic loci. Nature 287, 440–442 (1980).

Gibrat, J.F., Garnier, J. & Robson, B. Further developments of protein secondary structure prediction using information theory. New parameters and consideration of residue pairs. J. Mol. Biol. 198, 425–443 (1987).

Rask-Andersen, A., Malmberg, P. & Lundholm, M. Endotoxin levels in farming: absence of symptoms despite high exposure level. Br. J. Ind. Med. 46, 412–416 (1989).

Warren, W. et al. Detection of mutations by single-strand conformation polymorphism (SSCP) analysis and SSCP-hybrid methods. in Current Protocols in Human Genetics (eds Dracopoli, N.C. et al.) 7.41–7.4.23 (John Wiley & Sons, New York, 1997).

Zabner, J., Zeiher, B.G., Friedman, E. & Welsh, M.J. Adenovirus-mediated gene transfer to ciliated airway epithelia requires prolonged incubation time. J. Virol. 70, 6694–7003 (1996).

Rock, F.L., Hardiman, G., Timans, J.C., Kastelein, R.A. & Bazan, J.F. A family of human receptors structurally related to Drosophila Toll. Proc. Natl Acad. Sci. USA 95, 588–593 (1998).

Davidson, B.L. et al. Expression of Escherichia coli β-galactosidease and rat HPRT in the CNS of Macaca mulatta following adenoviral mediated gene transfer. Exp. Neurol. 125, 258–267 (1994).

Fasbender, A. et al. Incorporation of adenovirus in calcium phosphate precipitates enhances gene transfer to airway epithelia in vitro and in vivo. J. Clin. Invest. 102, 184–193 (1998).

Fisher, L.D. & van Belle, G. Biostatistics—A Methodology for the Health Sciences (Wiley, New York, 1993).