The genetic variation of the human HMGB1 gene
Corresponding Author
B. Kornblit
Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Allogeneic Hematopoietic Cell Transplantation Laboratoy-4041, Department of Haematology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Dr Brian KornblitTissue Typing Laboratory-7631Department of Clinical ImmunologyRigshospitaletBlegdamsvej 92100 CopenhagenDenmarkTel: +45 35 457631Fax: +45 35 398766e-mail: [email protected]Search for more papers by this authorL. Munthe-Fog
Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for more papers by this authorS. L. Petersen
Allogeneic Hematopoietic Cell Transplantation Laboratoy-4041, Department of Haematology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for more papers by this authorH. O. Madsen
Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for more papers by this authorL. Vindeløv
Allogeneic Hematopoietic Cell Transplantation Laboratoy-4041, Department of Haematology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for more papers by this authorP. Garred
Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for more papers by this authorCorresponding Author
B. Kornblit
Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Allogeneic Hematopoietic Cell Transplantation Laboratoy-4041, Department of Haematology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Dr Brian KornblitTissue Typing Laboratory-7631Department of Clinical ImmunologyRigshospitaletBlegdamsvej 92100 CopenhagenDenmarkTel: +45 35 457631Fax: +45 35 398766e-mail: [email protected]Search for more papers by this authorL. Munthe-Fog
Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for more papers by this authorS. L. Petersen
Allogeneic Hematopoietic Cell Transplantation Laboratoy-4041, Department of Haematology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for more papers by this authorH. O. Madsen
Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for more papers by this authorL. Vindeløv
Allogeneic Hematopoietic Cell Transplantation Laboratoy-4041, Department of Haematology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for more papers by this authorP. Garred
Tissue Typing Laboratory-7631, Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for more papers by this authorAbstract
High-mobility group box 1 protein (HMGB1) is a nuclear DNA-binding protein, which also functions as a pleiotropic cytokine, implicated in the pathology of several different immune-mediated diseases. The purpose of this study was to examine the HMGB1 gene for putative polymorphisms in 103 healthy Caucasian Danish blood donors. A total of six polymorphisms and four mutations were identified in the HMGB1 gene. Subsequent MatInspector estimation revealed that several polymorphisms might have a potential regulatory impact on HMGB1 transcription. This study has characterized genetic variations in the HMGB1 gene locus, which may have a regulating role in the expression of HMGB1, providing the basis for molecular investigations of the HMGB1 gene in different disease settings.
References
- 1 Javaherian K, Liu JF, Wang JC. Nonhistone proteins HMG1 and HMG2 change the DNA helical structure. Science 1978: 199: 1345–6.
- 2 Bustin M, Hopkins RB, Isenberg I. Immunological relatedness of high mobility group chromosomal proteins from calf thymus. J Biol Chem 1978: 253: 1694–9.
- 3 Baker C, Isenberg I, Goodwin GH, Johns EW. Physical studies of the nonhistone chromosomal proteins HMG-U and HMG-2. Biochemistry 1976: 15: 1645–9.
- 4 Bianchi ME, Beltrame M, Paonessa G. Specific recognition of cruciform DNA by nuclear protein HMG1. Science 1989: 243: 1056–9.
- 5 West KL, Castellini MA, Duncan MK, Bustin M. Chromosomal proteins HMGN3a and HMGN3b regulate the expression of glycine transporter 1. Mol Cell Biol 2004: 24: 3747–56.
- 6 Park JS, Arcaroli J, Yum HK et al. Activation of gene expression in human neutrophils by high mobility group box 1 protein. Am J Physiol Cell Physiol 2003: 284: C870–9.
- 7 Stros M, Ozaki T, Bacikova A, Kageyama H, Nakagawara A. HMGB1 and HMGB2 cell-specifically down-regulate the p53- and p73-dependent sequence-specific transactivation from the human Bax gene promoter. J Biol Chem 2002: 277: 7157–64.
- 8 Calogero S, Grassi F, Aguzzi A et al. The lack of chromosomal protein Hmg1 does not disrupt cell growth but causes lethal hypoglycaemia in newborn mice. Nat Genet 1999: 22: 276–80.
- 9 Wang H, Bloom O, Zhang M et al. HMG-1 as a late mediator of endotoxin lethality in mice. Science 1999: 285: 248–51.
- 10 Yang H, Ochani M, Li J et al. Reversing established sepsis with antagonists of endogenous high-mobility group box 1. Proc Natl Acad Sci 2004: 101: 296–301.
- 11 Scaffidi P, Misteli T, Bianchi ME. Release of chromatin protein HMGB1 by necrotic cells triggers inflammation. Nature 2002: 418: 191–5.
- 12 Hori O, Brett J, Slattery T et al. The receptor for advanced glycation end products (RAGE) is a cellular binding site for amphoterin. J Biol Chem 1995: 270: 25752–61.
- 13 Park JS, Svetkauskaite D, He Q et al. Involvement of Toll-like receptors 2 and 4 in cellular activation by high mobility group box 1 protein. J Biol Chem 2004: 279: 7370–7.
- 14 Rovere-Querini P, Capobianco A, Scaffidi P et al. HMGB1 is an endogenous immune adjuvant released by necrotic cells. EMBO Rep 2004: 5: 825–30.
- 15 Bonaldi T, Talamo F, Scaffidi P et al. Monocytic cells hyperacetylate chromatin protein HMGB1 to redirect it towards secretion. EMBO J 2003: 22: 5551–60.
- 16 Taniguchi N, Kawahara K, Yone K et al. High mobility group box chromosomal protein 1 plays a role in the pathogenesis of rheumatoid arthritis as a novel cytokine. Arthritis Rheum 2003: 48: 971–81.
- 17 Kokkola R, Li J, Sundberg E et al. Successful treatment of collagen-induced arthritis in mice and rats by targeting extracellular high mobility group box chromosomal protein 1 activity. Arthritis Rheum 2003: 48: 2052–8.
- 18 Ombrellino M, Wang H, Ajemian MS et al. Increased serum concentrations of high-mobility-group protein 1 in haemorrhagic shock. Lancet 1999: 354: 1446–7.
- 19 Goldstein RS, Gallowitsch-Puerta M, Yang L et al. Elevated high-mobility group box 1 levels in patients with cerebral and myocardial ischemia. Shock 2006: 25: 571–4.
- 20 Ueno H, Matsuda T, Hashimoto S et al. Contributions of high mobility group box protein in experimental and clinical acute lung injury. Am J Respir Crit Care Med 2004: 170: 1310–6.
- 21 Flohr AM, Rogalla P, Meiboom M et al. Variation of HMGB1 expression in breast cancer. Anticancer Res 2001: 21: 3881–5.
- 22 Choi YR, Kim H, Kang HJ et al. Overexpression of high mobility group box 1 in gastrointestinal stromal tumors with KIT mutation. Cancer Res 2003: 63: 2188–93.
- 23 Kuniyasu H, Oue N, Wakikawa A et al. Expression of receptors for advanced glycation end-products (RAGE) is closely associated with the invasive and metastatic activity of gastric cancer. J Pathol 2002: 196: 163–70.
- 24 Kuniyasu H, Chihara Y, Takahashi T. Co-expression of receptor for advanced glycation end products and the ligand amphoterin associates closely with metastasis of colorectal cancer. Oncol Rep 2003: 10: 445–8.
- 25 Huttunen HJ, Fages C, Kuja-Panula J, Ridley AJ, Rauvala H. Receptor for advanced glycation end products-binding COOH-terminal motif of amphoterin inhibits invasive migration and metastasis. Cancer Res 2002: 62: 4805–11.
- 26 Nestl A, Von Stein OD, Zatloukal K et al. Gene expression patterns associated with the metastatic phenotype in rodent and human tumors. Cancer Res 2001: 61: 1569–77.
- 27 Muller S, Ronfani L, Bianchi ME. Regulated expression and subcellular localization of HMGB1, a chromatin protein with a cytokine function. J Intern Med 2004: 255: 332–43.
- 28 Lee KB, Thomas JO. The effect of the acidic tail on the DNA-binding properties of the HMG1,2 class of proteins: insights from tail switching and tail removal. J Mol Biol 2000: 304: 135–49.
- 29 Ferrari S, Finelli P, Rocchi M, Bianchi ME. The active gene that encodes human high mobility group 1 protein (HMG1) contains introns and maps to chromosome 13. Genomics 1996: 35: 367–71.
- 30 Bianchi ME. The HMG box domain. In: DMJ Lilley, ed. DNA-Protein: Structural Interactions. Oxford: Oxford University Press, 1995, 177–200.
- 31 Bustin M, Lehn DA, Landsman D. Structural features of the HMG chromosomal proteins and their genes. Biochim Biophys Acta 1990: 1049: 231–43.
- 32 Wen L, Huang JK, Johnson BH, Reeck GR. A human placental cDNA clone that encodes nonhistone chromosomal protein HMG-1. Nucleic Acids Res 1989: 17: 1197–214.
- 33 Agresti A, Bianchi ME. HMGB proteins and gene expression. Curr Opin Genet Dev 2003: 13: 170–8.
- 34 Reeck GR, Isackson PJ, Teller DC. Domain structure in high molecular weight high mobility group nonhistone chromatin proteins. Nature 1982: 300: 76–8.
- 35 Cary PD, Turner CH, Leung I, Mayes E, Crane-Robinson C. Conformation and domain structure of the non-histone chromosomal proteins HMG 1 and 2. Domain interactions. Eur J Biochem 1984: 143: 323–30.
- 36 Hollegaard MV, Bidwell JL. Cytokine gene polymorphism in human disease: on-line databases. Genes Immun 2006: 7(Suppl 3): 269–76.
- 37 Sherry ST, Ward MH, Kholodov M et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001: 29: 308–11.
- 38 Hall TA. BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT [computer program]. Version 7.0.5.3. Nucleic Acids Symp Ser 1999: 41: 95–8.
- 39 Benson DA, Karsch-Mizrachi I, Lipman DJ, Ostell J, Wheeler DL. GenBank. Nucleic Acids Res 2006: 34(Suppl 1): D16–D20.
- 40 Quandt K, Frech K, Karas H, Wingender E, Werner T. MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res 1995: 23: 4878–84.
- 41 Borrmann L, Kim I, Schultheiss D, Rogalla P, Bullerdiek J. Regulation of the expression of HMG1, a co-activator of the estrogen receptor. Anticancer Res 2001: 21(1A): 301–5.
- 42 Lum HK, Lee KL. The human HMGB1 promoter is modulated by a silencer and an enhancer-containing intron. Biochim Biophys Acta 2001: 1520: 79–84.
- 43 Mantovani R. A survey of 178 NF-Y binding CCAAT boxes. Nucleic Acids Res 1998: 26: 1135–43.
- 44 Mailly F, Berube G, Harada R, Mao PL, Phillips S, Nepveu A. The human Cut homeodomain protein can repress gene expression by two distinct mechanisms: active repression and competition for binding site occupancy. Mol Cell Biol 1996: 16: 5346–57.
- 45 Nepveu A. Role of the multifunctional CDP/Cut/Cux homeodomain transcription factor in regulating differentiation, cell growth and development. Gene 2001: 270: 1–15.
- 46 Biedenkapp H, Borgmeyer U, Sippel AE, Klempnauer KH. Viral myb oncogene encodes a sequence-specific DNA-binding activity. Nature 1988: 335: 835–7.
- 47 Weston K. Myb proteins in life, death and differentiation. Curr Opin Genet Dev 1998: 8: 76–81.
- 48 Hernandez-Munain C, Krangel MS. Regulation of the T-cell receptor delta enhancer by functional cooperation between c-Myb and core-binding factors. Mol Cell Biol 1994: 14: 473–83.
- 49 Chayka O, Kintscher J, Braas D, Klempnauer KH. v-Myb mediates cooperation of a cell-specific enhancer with the mim-1 promoter. Mol Cell Biol 2005: 25: 499–511.
- 50 Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, Brunak S. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 1996: 24: 3439–52.
- 51 Brunak S, Engelbrecht J, Knudsen S. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 1991: 220: 49–65.
