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Volumn 50, Issue , 1999, Pages 87-98

Genetics of hemochromatosis

Author keywords

C282Y; H63D; Hemochromatosis; Iron metabolism; Positional cloning

Indexed keywords

ASPARTIC ACID; CYSTEINE; HISTIDINE; TYROSINE;

EID: 0033017123     PISSN: 00664219     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.med.50.1.87     Document Type: Review
Times cited : (30)

References (55)
  • 1
    • 0023901798 scopus 로고
    • Prevalence of hemochromatosis among 11065 presumably healthy blood donors
    • 1. Edwards CQ, Griffen LM, Goldgar D, et al. 1988. Prevalence of hemochromatosis among 11065 presumably healthy blood donors. N. Engl. J. Med. 318:1355-62
    • (1988) N. Engl. J. Med. , vol.318 , pp. 1355-1362
    • Edwards, C.Q.1    Griffen, L.M.2    Goldgar, D.3
  • 2
    • 0025271856 scopus 로고
    • Prevalence of haemochromatosis amongst asymptomatic Australians
    • 2. Leggett BA, Halliday JW, Brown NN, et al. 1990. Prevalence of haemochromatosis amongst asymptomatic Australians. Br. J. Haematol. 74:525-30
    • (1990) Br. J. Haematol. , vol.74 , pp. 525-530
    • Leggett, B.A.1    Halliday, J.W.2    Brown, N.N.3
  • 7
    • 0017698209 scopus 로고
    • Demonstration of recessive transmission and early detection by family HLA typing
    • 7. Simon M, Bourel M, Genetet B, Fauchet R. 1977. Demonstration of recessive transmission and early detection by family HLA typing. N. Engl. J. Med. 297:1017-21
    • (1977) N. Engl. J. Med. , vol.297 , pp. 1017-1021
    • Simon, M.1    Bourel, M.2    Genetet, B.3    Fauchet, R.4
  • 8
    • 0027491809 scopus 로고
    • Localization of the hemochromatosis gene close to D6S105
    • 8. Jazwinska EC, Lee SC, Webb SI, et al. 1993. Localization of the hemochromatosis gene close to D6S105. Am. J. Hum. Genet. 53:347-52
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 347-352
    • Jazwinska, E.C.1    Lee, S.C.2    Webb, S.I.3
  • 9
    • 0029085913 scopus 로고
    • Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F
    • 9. Calandro LM, Baer DM, Sensabaugh GF. 1995. Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F. Hum. Genet. 96:339-42
    • (1995) Hum. Genet. , vol.96 , pp. 339-342
    • Calandro, L.M.1    Baer, D.M.2    Sensabaugh, G.F.3
  • 10
    • 0028805511 scopus 로고
    • New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105
    • 10. Raha-Chowdhury R, Bowen DJ, Stone C, et al. 1995. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum. Mol. Genet. 4:1869-74
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1869-1874
    • Raha-Chowdhury, R.1    Bowen, D.J.2    Stone, C.3
  • 11
    • 0028878293 scopus 로고
    • Haplotype analysis in Australian hemochromatosis patients: Evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis
    • 11. Jazwinska EC, Pyper WR, Burt MJ, et al. 1995. Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. Am. J. Hum. Genet. 56:428-33
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 428-433
    • Jazwinska, E.C.1    Pyper, W.R.2    Burt, M.J.3
  • 13
    • 0029985519 scopus 로고    scopus 로고
    • A 4.5-megabase YAC contig and physical map over the hemochromatosis gene region
    • 13. Burt MJ, Smit DJ, Pyper WR, et al. 1996. A 4.5-megabase YAC contig and physical map over the hemochromatosis gene region. Genomics 33:153-58
    • (1996) Genomics , vol.33 , pp. 153-158
    • Burt, M.J.1    Smit, D.J.2    Pyper, W.R.3
  • 14
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • 14. Feder JN, Gnirke A, Thomas W, et al. 1996. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13:399-408
    • (1996) Nat. Genet. , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 15
    • 0031092738 scopus 로고    scopus 로고
    • Putting a hold on 'HLA-H'
    • The WHO Nomenclature Committee for Factors of the HLA System
    • 15. Bodmer JG, Parham P, Albert ED, Marsh SG. 1997. Putting a hold on 'HLA-H.' The WHO Nomenclature Committee for Factors of the HLA System. Nat. Genet. 15:234-35
    • (1997) Nat. Genet. , vol.15 , pp. 234-235
    • Bodmer, J.G.1    Parham, P.2    Albert, E.D.3    Marsh, S.G.4
  • 18
    • 0031037009 scopus 로고    scopus 로고
    • Genetic irony beyond haemochromatosis: Clinical effects of HLA-H mutations
    • 18. Beutler E. 1997. Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations. Lancet 349:296-97
    • (1997) Lancet , vol.349 , pp. 296-297
    • Beutler, E.1
  • 19
    • 0031213521 scopus 로고    scopus 로고
    • Correlation between genotype and phenotype in hereditary hemochromatosis: Analysis of 61 cases
    • 19. Sham RL, Ou CY, Cappuccio J, et al. 1997. Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases. Blood Cells Mol. Dis. 23:314-20
    • (1997) Blood Cells Mol. Dis. , vol.23 , pp. 314-320
    • Sham, R.L.1    Ou, C.Y.2    Cappuccio, J.3
  • 20
    • 0031969395 scopus 로고    scopus 로고
    • Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
    • 20. Crawford DH, Jazwinska EC, Cullen LM, et al. 1998. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology 114:1003-8
    • (1998) Gastroenterology , vol.114 , pp. 1003-1008
    • Crawford, D.H.1    Jazwinska, E.C.2    Cullen, L.M.3
  • 21
    • 0027232739 scopus 로고
    • Concordance of iron storage in siblings with genetic hemochromatosis: Evidence for a predominantly genetic effect on iron storage
    • 21. Crawford DH, Halliday JW, Summers KM, et al. 1993. Concordance of iron storage in siblings with genetic hemochromatosis: evidence for a predominantly genetic effect on iron storage. Hepatology 17:833-37
    • (1993) Hepatology , vol.17 , pp. 833-837
    • Crawford, D.H.1    Halliday, J.W.2    Summers, K.M.3
  • 22
    • 0021346479 scopus 로고
    • Evidence for heterogeneity in hereditary hemochromatosis
    • 22. Muir WA, McLaren GD, Braun W, et al. 1984. Evidence for heterogeneity in hereditary hemochromatosis. Am. J. Med. 76:806-14
    • (1984) Am. J. Med. , vol.76 , pp. 806-814
    • Muir, W.A.1    McLaren, G.D.2    Braun, W.3
  • 23
    • 16944363480 scopus 로고    scopus 로고
    • Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
    • 23. Carella M, D'Ambrosio L, Totaro A, et al. 1997. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am. J. Hum. Genet. 60:828-32
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 828-832
    • Carella, M.1    D'Ambrosio, L.2    Totaro, A.3
  • 24
    • 0031047769 scopus 로고    scopus 로고
    • Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients
    • 24. Borot N, Roth M, Malfroy L, et al. 1997. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics 45:320-24
    • (1997) Immunogenetics , vol.45 , pp. 320-324
    • Borot, N.1    Roth, M.2    Malfroy, L.3
  • 25
    • 0032478524 scopus 로고    scopus 로고
    • Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
    • 25. Lebron JA, Bennett MJ, Vaughn DE, et al. 1998. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93:111-23
    • (1998) Cell , vol.93 , pp. 111-123
    • Lebron, J.A.1    Bennett, M.J.2    Vaughn, D.E.3
  • 26
    • 17644434333 scopus 로고    scopus 로고
    • The hemochromatosis founder mutation in HLA-H disrupts β2-microglobulin interaction and cell surface expression
    • 26. Feder JN, Tsuchihashi Z, Irrinki A, et al. 1997. The hemochromatosis founder mutation in HLA-H disrupts β2-microglobulin interaction and cell surface expression. J. Biol. Chem. 272:14025-28
    • (1997) J. Biol. Chem. , vol.272 , pp. 14025-14028
    • Feder, J.N.1    Tsuchihashi, Z.2    Irrinki, A.3
  • 27
    • 0030732164 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
    • 27. Waheed A, Parkkila S, Zhou XY, et al. 1997. Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with β2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc. Natl. Acad. Sci. USA 94:12384-89
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 12384-12389
    • Waheed, A.1    Parkkila, S.2    Zhou, X.Y.3
  • 28
    • 0028176811 scopus 로고
    • Iron overload in β2-microglobulin deficient mice
    • 28. de Sousa M, Reimao R, Lacerda R, et al. 1994. Iron overload in β2-microglobulin deficient mice. Immunol. Lett. 39:105-11
    • (1994) Immunol. Lett. , vol.39 , pp. 105-111
    • De Sousa, M.1    Reimao, R.2    Lacerda, R.3
  • 29
    • 0029670047 scopus 로고    scopus 로고
    • β2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism
    • 29. Rothenberg BE, Voland JR. 1996. β2 knockout mice develop parenchymal iron overload: a putative role for class I genes of the major histocompatibility complex in iron metabolism. Proc. Natl. Acad. Sci. USA 93:1529-34
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 1529-1534
    • Rothenberg, B.E.1    Voland, J.R.2
  • 30
    • 0001376313 scopus 로고    scopus 로고
    • HFE gene knockout produces mouse model of hereditary hemochromatosis
    • 30. Zhou XY, Tomatsu S, Fleming RE, et al. 1998. HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc. Natl. Acad. Sci. USA 95:2492-97
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 2492-2497
    • Zhou, X.Y.1    Tomatsu, S.2    Fleming, R.E.3
  • 31
    • 0017167384 scopus 로고
    • Patterns of iron storage in dietary iron overload and idiopathic hemochromatosis
    • 31. Brink B, Disler P, Lynch S, et al. 1976. Patterns of iron storage in dietary iron overload and idiopathic hemochromatosis. J. Lab. Clin. Med. 88:725-31
    • (1976) J. Lab. Clin. Med. , vol.88 , pp. 725-731
    • Brink, B.1    Disler, P.2    Lynch, S.3
  • 32
    • 0031002910 scopus 로고    scopus 로고
    • Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract
    • 32. Parkkila S, Waheed A, Britton RS, et al. 1997. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc. Natl. Acad. Sci. USA 94:2534-39
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 2534-2539
    • Parkkila, S.1    Waheed, A.2    Britton, R.S.3
  • 33
    • 0029856326 scopus 로고    scopus 로고
    • The control of iron absorption
    • 33. Anderson GJ. 1996. The control of iron absorption. J. Gastroenterol. Hepatol. 11:1030-32
    • (1996) J. Gastroenterol. Hepatol. , vol.11 , pp. 1030-1032
    • Anderson, G.J.1
  • 34
    • 0025098220 scopus 로고
    • Transferrin receptor distribution and regulation in the rat small intestine. Effect of iron stores and erythropoiesis
    • 34. Anderson GJ, Powell LW, Halliday JW. 1990. Transferrin receptor distribution and regulation in the rat small intestine. Effect of iron stores and erythropoiesis. Gastroenterology 98:576-85
    • (1990) Gastroenterology , vol.98 , pp. 576-585
    • Anderson, G.J.1    Powell, L.W.2    Halliday, J.W.3
  • 35
    • 0022545796 scopus 로고
    • Transferrin receptors in the human gastrointestinal tract. Relationship to body iron stores
    • 35. Banerjee D, Flanagan PR, Cluett J, et al. 1986. Transferrin receptors in the human gastrointestinal tract. Relationship to body iron stores. Gastroenterology 91:861-69
    • (1986) Gastroenterology , vol.91 , pp. 861-869
    • Banerjee, D.1    Flanagan, P.R.2    Cluett, J.3
  • 36
    • 0030712463 scopus 로고    scopus 로고
    • Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
    • 36. Parkkila S, Waheed A, Britton RS, et al. 1997. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc. Natl. Acad. Sci. USA 94:13198-202
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 13198-13202
    • Parkkila, S.1    Waheed, A.2    Britton, R.S.3
  • 37
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    • 37. Feder JN, Penny DM, Irrinki A, et al. 1998. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl. Acad. Sci. USA 95:1472-77
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinki, A.3
  • 38
    • 0022368621 scopus 로고
    • Survival and causes of death in cirrhotic and non-cirrhotic patients with primary hemochromatosis
    • 38. Niederau C, Fisher R, Sonnenberg A, et al. 1985. Survival and causes of death in cirrhotic and non-cirrhotic patients with primary hemochromatosis. N. Engl. J. Med. 313:1256-62
    • (1985) N. Engl. J. Med. , vol.313 , pp. 1256-1262
    • Niederau, C.1    Fisher, R.2    Sonnenberg, A.3
  • 39
    • 0029922315 scopus 로고    scopus 로고
    • Metals, oxidative stress and hepatic fibrogenesis
    • 39. Pietrangelo A. 1996. Metals, oxidative stress and hepatic fibrogenesis. Sem. Liv. Dis. 16:13-30
    • (1996) Sem. Liv. Dis. , vol.16 , pp. 13-30
    • Pietrangelo, A.1
  • 40
    • 0013568799 scopus 로고
    • Cellular basis of hepatic fibrosis: Mechanisms and treatment strategies
    • 40. Friedman SL. 1993. Cellular basis of hepatic fibrosis: mechanisms and treatment strategies. N. Engl. J. Med 164:1202-5
    • (1993) N. Engl. J. Med , vol.164 , pp. 1202-1205
    • Friedman, S.L.1
  • 41
    • 0031012401 scopus 로고    scopus 로고
    • The cellular pathogenesis of portal hypertension: Stellate cell contractility, endothelin and nitric oxide
    • 41. Rockey DC. 1997. The cellular pathogenesis of portal hypertension: stellate cell contractility, endothelin and nitric oxide. Hepatology 25:2-5
    • (1997) Hepatology , vol.25 , pp. 2-5
    • Rockey, D.C.1
  • 42
    • 0027990266 scopus 로고
    • Excess iron into hepatocytes is required for activation of collagen type I gene during experimental siderosis
    • 42. Gualdi R, Casalgrandi G, Montosi G, et al. 1994. Excess iron into hepatocytes is required for activation of collagen type I gene during experimental siderosis. Gastroenterology 107:1118-24
    • (1994) Gastroenterology , vol.107 , pp. 1118-1124
    • Gualdi, R.1    Casalgrandi, G.2    Montosi, G.3
  • 43
    • 0028118654 scopus 로고
    • Enhanced hepatic collagen type 1 mRNA expression into fat-storing cells in a rodent model of hemochromatosis
    • 43. Pietrangelo A, Gualdi R, Casalgrandi G, et al. 1994. Enhanced hepatic collagen type 1 mRNA expression into fat-storing cells in a rodent model of hemochromatosis. Hepatology 19:714-21
    • (1994) Hepatology , vol.19 , pp. 714-721
    • Pietrangelo, A.1    Gualdi, R.2    Casalgrandi, G.3
  • 44
    • 0028953697 scopus 로고
    • Chronic iron overload causes in vivo activation of rat lipocytes
    • 44. Ramm GA, Li SCY, Li L, et al. 1995. Chronic iron overload causes in vivo activation of rat lipocytes. Am. J. Physiol. 268:G451-58
    • (1995) Am. J. Physiol. , vol.268
    • Ramm, G.A.1    Li, S.C.Y.2    Li, L.3
  • 45
    • 0031054425 scopus 로고    scopus 로고
    • Hepatic stellate cell activation in genetic hemochromatosis: Lobular distribution, effect of increasing hepatic iron and response to phlebotomy
    • 45. Ramm GA, Crawford DHG, Powell LW, et al. 1997. Hepatic stellate cell activation in genetic hemochromatosis: lobular distribution, effect of increasing hepatic iron and response to phlebotomy. J. Hepatol. 26:584-92
    • (1997) J. Hepatol. , vol.26 , pp. 584-592
    • Ramm, G.A.1    Crawford, D.H.G.2    Powell, L.W.3
  • 46
    • 0027974170 scopus 로고
    • 1 (I) gene expression are increased in hepatic acinar zone 1 of rats with iron overload
    • 1 (I) gene expression are increased in hepatic acinar zone 1 of rats with iron overload. Am. J. Physiol. 267:G908-13
    • (1994) Am. J. Physiol. , vol.267
    • Houglum, K.1    Bedossa, P.2    Chojkier, M.3
  • 49
    • 0031915552 scopus 로고    scopus 로고
    • Fibrogenic effect of oxidative stress on rat hepatic stellate cells
    • 49. Baroni GS, D'Amrosio L, Ferretti G, et al. 1998. Fibrogenic effect of oxidative stress on rat hepatic stellate cells. Hepatology 27:720-26
    • (1998) Hepatology , vol.27 , pp. 720-726
    • Baroni, G.S.1    D'Amrosio, L.2    Ferretti, G.3
  • 50
    • 0028338934 scopus 로고
    • Identification and characterization of a receptor for tissue ferritin on activated rat lipocytes
    • 50. Ramm GA, Britton RS, O'Neill R, et al. 1994. Identification and characterization of a receptor for tissue ferritin on activated rat lipocytes. J. Clin. Invest. 94:9-15
    • (1994) J. Clin. Invest. , vol.94 , pp. 9-15
    • Ramm, G.A.1    Britton, R.S.2    O'Neill, R.3
  • 51
    • 0028857744 scopus 로고
    • Vitamin A - Poor lipocytes: A novel desmin-negative lipocyte subpopulation, which can be activated to myofibroblasts
    • 51. Ramm GA, Britton RS, Blaner WS, et al. 1995. Vitamin A - poor lipocytes: a novel desmin-negative lipocyte subpopulation, which can be activated to myofibroblasts. Am. J. Physiol. 269:G532-41
    • (1995) Am. J. Physiol. , vol.269
    • Ramm, G.A.1    Britton, R.S.2    Blaner, W.S.3
  • 52
    • 0029882435 scopus 로고    scopus 로고
    • Rat liver ferritin selectively inhibits the expression of α-smooth muscle actin in cultured rat lipocytes
    • 52. Ramm GA, Britton RS, O'Neill R, et al. 1996. Rat liver ferritin selectively inhibits the expression of α-smooth muscle actin in cultured rat lipocytes. Am. J. Physiol. 270:G370-75
    • (1996) Am. J. Physiol. , vol.270
    • Ramm, G.A.1    Britton, R.S.2    O'Neill, R.3
  • 53
    • 4243506921 scopus 로고    scopus 로고
    • Role of tissue ferritin in regulation of α-smooth muscle actin expression in hepatic stellate cells via PKCζ and/or nitric oxide
    • Abstr.
    • 53. Ramm GA, Piva TJ, Nair VG, et al. 1997. Role of tissue ferritin in regulation of α-smooth muscle actin expression in hepatic stellate cells via PKCζ and/or nitric oxide. Hepatology 26:A451 (Abstr.)
    • (1997) Hepatology , vol.26
    • Ramm, G.A.1    Piva, T.J.2    Nair, V.G.3
  • 54
    • 0027534329 scopus 로고
    • Iron increases ethanol toxicity in rat liver
    • 54. Stål P, Hultcrantz R. 1993. Iron increases ethanol toxicity in rat liver. J. Hepatol. 17:108-15
    • (1993) J. Hepatol. , vol.17 , pp. 108-115
    • Stål, P.1    Hultcrantz, R.2
  • 55
    • 4243439447 scopus 로고
    • A novel in vitro model for the study of phagocytosis of iron-loaded hepatocytes by Kupffer cells
    • Abstr.
    • 55. Olynyk JK, Fox ES, Stephenson AH, et al. 1994. A novel in vitro model for the study of phagocytosis of iron-loaded hepatocytes by Kupffer cells. Hepatology 20:A181 (Abstr.)
    • (1994) Hepatology , vol.20
    • Olynyk, J.K.1    Fox, E.S.2    Stephenson, A.H.3


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