Seeking Candidate Mutations That Affect Iron Homeostasis

Blood Cells, Molecules, and Diseases - Tập 29 - Trang 471-487 - 2002
Pauline Lee1, Terri Gelbart1, Carol West1, Carol Halloran1, Ernest Beutler1
1The Scripps Research Institute, Department of Molecular and Experimental Medicine, MEM215, 10550 North Torrey Pines Road, La Jolla, California, 92014

Tài liệu tham khảo

Åsberg, 2002, Persons with screening-detected haemochromatosis: as healthy as the general population?, Scand. J. Gastroenterol., 37, 719, 10.1080/00365520212510 Beutler, 2002, Penetrance of the 845G6A (C282Y) HFE hereditary haemochromatosis mutation in the USA, Lancet, 359, 211, 10.1016/S0140-6736(02)07447-0 Beutler, 2000, Molecular characterization of a case of atransferrinemia, Blood, 96, 4071, 10.1182/blood.V96.13.4071 Lee, 2001, A study of genes that may modulate the expression of hereditary hemochromatosis: Transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin, Blood Cells Mol. Dis., 27, 783, 10.1006/bcmd.2001.0445 de Sousa, 1994, Iron overload in beta 2-microglobulin-deficient mice, Immunol. Lett., 39, 105, 10.1016/0165-2478(94)90094-9 Feder, 1997, The hemochromatosis founder mutation in HLA-H disrupts {beta}2-microglobulin interaction and cell surface expression, J. Biol. Chem., 272, 14025, 10.1074/jbc.272.22.14025 Beutler, 1997, HLA-H and associated proteins in patients with hemochromatosis, Mol. Med., 3, 397, 10.1007/BF03401686 Park, 2001, Hepcidin, a urinary antimicrobial peptide synthesized in the liver, J. Biol. Chem., 276, 7806, 10.1074/jbc.M008922200 Nicolas, 2001, Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice, Proc. Natl. Acad. Sci. USA, 98, 8780, 10.1073/pnas.151179498 Nicolas, 2002, Severe iron deficiency anemia in transgenic mice expressing liver hepcidin, Proc. Natl. Acad. Sci. USA, 99, 4596, 10.1073/pnas.072632499 Lee, 1999, The effect of transferrin polymorphisms on iron metabolism, Blood Cells Mol. Dis., 25, 374, 10.1006/bcmd.1999.0267 Fairbanks, 1971 Lee, 2001, Human transferrin G277S mutation: A risk factor for iron deficiency anaemia, Br. J. Haematol., 115, 329, 10.1046/j.1365-2141.2001.03096.x Lee, 2001, Polymorphisms in the transferrin 5′ flanking region associated with differences in total iron binding capacity: Possible implications in iron homeostasis, Blood Cells Mol. Dis., 27, 539, 10.1006/bcmd.2001.0418 Tsuchihashi, 1998, Transferrin receptor mutation analysis in hereditary hemochromatosis patients, Blood Cells Mol. Dis., 24, 317, 10.1006/bcmd.1998.0199 Lee, 2001, Mutation analysis of the transferrin receptor-2 gene in patients with iron overload, Blood Cells Mol. Dis., 27, 285, 10.1006/bcmd.2001.0381 Camaschella, 2000, The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22, Nature Genet., 25, 14, 10.1038/75534 Girelli, 2002, Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene, Gastroenterology, 122, 1295, 10.1053/gast.2002.32984 Roetto, 2001, New mutations inactivating transferrin receptor 2 in hemochromatosis type 3, Blood, 97, 2555, 10.1182/blood.V97.9.2555 Lee, 2000, Mutations in candidate genes that may influence the hemochromatosis phenotype: Ferroportin and ceruloplasmin, Blood, 96, 223a Njajou, 2001, A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis, Nature Genet., 28, 213, 10.1038/90038 Fleming, 2001, Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding, J. Clin. Invest., 108, 521, 10.1172/JCI13739 Montosi, 2001, Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene, J. Clin. Invest., 108, 619, 10.1172/JCI200113468 Njajou, 2002, The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes, Mol. Genet. Metab., 75, 290, 10.1006/mgme.2002.3299 Roetto, 2002, A valine deletion of ferroportin 1: A common mutation in hemochromatosis type 4?, Blood, 100, 733, 10.1182/blood-2002-03-0693 Devalia, 2002, Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3), Blood, 100, 695, 10.1182/blood-2001-11-0132 Wallace, 2002, Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis, Blood, 100, 692, 10.1182/blood.V100.2.692 Lioumi, 1999, Isolation and characterization of human and mouse ZIRTL, a member of the IRT1 family of transporters, mapping within the epidermal differentiation complex, Genomics, 62, 272, 10.1006/geno.1999.5993 Eng, 1998, Sequence analyses and phylogenetic characterization of the ZIP family of metal ion transport proteins, J Membr. Biol, 166, 1, 10.1007/s002329900442 Lioumi, 1998, High-resolution YAC fragmentation map of 1q21, Genomics, 49, 200, 10.1006/geno.1998.5234 Papanikolaou, 2001, Linkage to chromosome 1q in Greek families with juvenile hemochromatosis, Blood Cells Mol. Dis., 27, 744, 10.1006/bcmd.2001.0444 Vidal, 1993, Natural resistance to infection with intracellular parasites: isolation of a candidate for Bcg, Cell, 73, 469, 10.1016/0092-8674(93)90135-D Gunshin, 1997, Cloning and characterization of a mammalian proton-coupled metal-ion transporter, Nature, 388, 482, 10.1038/41343 Fleming, 1997, Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene, Nature Genet., 16, 383, 10.1038/ng0897-383 Barton, 1999, Nramp1: A link between intracellular iron transport and innate resistance to intracellular pathogens, J. Leuk. Biol., 66, 757, 10.1002/jlb.66.5.757 Biggs, 2001, Nramp1 modulates iron homoeostasis in vivo and in vitro: Evidence for a role in cellular iron release involving de-acidification of intracellular vesicles, Eur. J. Immunol., 31, 2060, 10.1002/1521-4141(200107)31:7<2060::AID-IMMU2060>3.0.CO;2-L LeBoeuf, 1995, Dissociation between tissue iron concentrations and transferrin saturation among inbred mouse strains, J. Lab. Clin. Med., 126, 128 Lee, 1998, The human nramp2 gene: Characterization of the gene structure, alternative splicing, promoter region and polymorphisms, Blood Cells Mol. Dis., 24, 199, 10.1006/bcmd.1998.0186 Fleming, 1998, Nramp2 is mutated in the anemic belgrade (b) rat: evidence of a role for nramp2 in endosomal iron transport, Proc. Natl. Acad. Sci. USA, 95, 1148, 10.1073/pnas.95.3.1148 Conrad, 1999, Iron absorption and transport, Am. J. Med. Sci., 318, 213, 10.1016/S0002-9629(15)40626-3 Solheim, 1997, Prominence of b2-microglobulin, class 1 heavy chain conformation, and tapasin in the interactions of class 1 heavy chain with calreticulin and the transporter associated with antigen processing, J. Immunol., 158, 2236, 10.4049/jimmunol.158.5.2236 Cazzola, 2002, A novel deletion of the l-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome, Br. J. Haematol., 116, 667, 10.1046/j.0007-1048.2001.03310.x Brooks, 2002, Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome, Invest. Ophthalmol. Vis. Sci., 43, 1121 Aguilar-Martinez, 1996, A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome, Blood, 88, 1895, 10.1182/blood.V88.5.1895.bloodjournal8851895 Cicilano, 1999, Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome, Haematologica, 84, 489 Curtis, 2001, Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease, Nature Genet., 28, 350, 10.1038/ng571 Ferreira, 2001, H ferritin knockout mice: A model of hyperferritinemia in the absence of iron overload, Blood, 98, 525, 10.1182/blood.V98.3.525 Kato, 2001, A mutation in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload, Am. J. Hum. Genet., 69, 191, 10.1086/321261 LaVaute, 2001, Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice, Nature Genet., 27, 209, 10.1038/84859 Lee, 2002, Mutations in iron-regulatory protein 2 (IRP2) and lack of association with sporadic Parkinson's disease, Mov. Disord., 17, 1302, 10.1002/mds.10253 Langlois, 2000, The haptoglobin 2-2 phenotype affects serum markers of iron status in healthy males, Clin. Chem., 46, 1619, 10.1093/clinchem/46.10.1619 Delanghe, 2002, Haptoglobin polymorphism and body iron stores, Clin. Chem. Lab. Med., 40, 212, 10.1515/CCLM.2002.035 Van Vlierberghe, 2001, Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic patients, J. Hepatol., 35, 707, 10.1016/S0168-8278(01)00203-3 Beutler, 2002, Haptoglobin polymorphism and iron homeostasis, Clin. Chem., 10.1093/clinchem/48.12.2232 Kawashima, 2002, Heme oxygenase-1 deficiency: The first autopsy case, Hum. Pathol., 33, 125, 10.1053/hupa.2002.30217 Yachie, 1999, Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency, J. Clin. Invest., 103, 129, 10.1172/JCI4165 Ferris, 1999, Haem oxygenase-1 prevents cell death by regulating cellular iron, Nat. Cell Biol, 1, 152, 10.1038/11072 Miller, 1991, Iron-independent induction of ferritin H chain by tumor necrosis factor, Proc. Natl. Acad. Sci. USA, 88, 4946, 10.1073/pnas.88.11.4946 Warren, 1993, The role of iron in the cytotoxicity of tumor necrosis factor, Lymph. Cytokine Res., 12, 75 Kwak, 1995, Role for NF-kappa B in the regulation of ferritin H by tumor necrosis factor-alpha, J. Biol. Chem., 270, 15285, 10.1074/jbc.270.25.15285 Tsuji, 1991, Tumor necrosis factor-alpha and interleukin 1-alpha regulate transferrin receptor in human diploid fibroblasts. Relationship to the induction of ferritin heavy chain, J Biol Chem, 266, 7257, 10.1016/S0021-9258(20)89638-0 Alvarez-Hernandez, 1989, Induction of hypoferremia and modulation of macrophage iron metabolism by tumor necrosis factor, Lab. Invest., 61, 319 Scaccabarozzi, 2000, Relationship between TNF-alpha and iron metabolism in differentiating human monocytic THP-1 cells, Br. J. Haematol., 110, 978, 10.1046/j.1365-2141.2000.02280.x Gordeuk, 1992, Decreased concentrations of tumor necrosis factor-a in supernatants of monocytes from homozygotes for hereditary hemochromatosis, Blood, 79, 1855, 10.1182/blood.V79.7.1855.1855 Fargion, 2001, Tumor necrosis factor alpha promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis, Blood, 97, 3707, 10.1182/blood.V97.12.3707 Beutler, 2002, Tumor necrosis factor a promoter polymorphisms and liver abnormalities of homozygotes for the c.845 G6A (C282Y) hereditary hemochromatosis mutation, Blood, 100, 2268, 10.1182/blood-2002-05-1520 Baribault, 1993, Mid-gestational lethality in mice lacking keratin 8, Genes Dev., 7, 1191, 10.1101/gad.7.7a.1191 Ku, 2001, Keratin 8 mutations in patients with cryptogenic liver disease, N. Engl. J. Med., 344, 1580, 10.1056/NEJM200105243442103 Ku, 1997, Mutation of human keratin 18 in association with cryptogenic cirrhosis, J. Clin. Invest., 99, 19, 10.1172/JCI119127 Sheldon, 1935 Whitelaw, 2001, Retrotransposons as epigenetic mediators of phenotypic variation in mammals, Nature Genet., 27, 361, 10.1038/86850 Rosendaal, 1999, Venous thrombosis: a multicausal disease, Lancet, 353, 1167, 10.1016/S0140-6736(98)10266-0 Beutler, 1981, The effect of alpha-thalassemia on the expression of the beta-thalassemia/HPFH heterozygote in a black family, Blood, 57, 1132, 10.1182/blood.V57.6.1132.1132 Kaplan, 1997, Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: A dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia, Proc. Natl. Acad. Sci. USA, 94, 12128, 10.1073/pnas.94.22.12128 Roetto, 1999, Juvenile hemochromatosis locus maps to chromosome 1q, Am. J. Hum. Genet., 64, 1388, 10.1086/302379