The ethnospecific distribution of the HFE haplotypes for IVS2(+4)t/c, IVS4(-44)t/c, and IVS5(-47)g/a in populations of russia and possible effects of these single-nucleotide polymorphisms in splicing

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 4, 2010, Pages 461-469

  Mikhailova, Svetlana Vladimirovna ^a   Babenko, Vladimir Nikolaevich ^a   Voevoda, Mikhail Ivanovich ^a,b   Romashchenko, Aida Gerasimovna ^a  

^a INSTITUTE OF CYTOLOGY AND GENETICS   (Russian Federation)

^b INSTITUTE OF PHYSIOLOGY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

HFE PROTEIN;

ARTICLE; DNA SPLICING; ETHNICITY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HAPLOTYPE; HEMOCHROMATOSIS; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RUSSIAN FEDERATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ETHNIC GROUPS; GENE FREQUENCY; GENETICS, POPULATION; HAPLOTYPES; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; INTRONS; LINKAGE DISEQUILIBRIUM; MEMBRANE PROTEINS; PHYLOGENY; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICING; RUSSIA;

EID: 77955910368     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0203     Document Type: Article

References (65)

1. Ahmad KA, Ahmann JR, Migas MC, et al. (2002) Decreased liver hepcidin expression in the Hfe knockout mouse. Blood Cells Mol Dis 29:361-366.
2. Ajioka RS, Kushner JP (2003) Clinical consequences of iron overload in hemochromatosis homozygotes. Blood 101:3351-3354.
3. Bastin J, Drakesmith H, Rees M, et al. (2006) Localisation of proteins of iron metabolism in the human placenta and liver. Br J Haematol 134:532-543.
4. Beutler E (1997) The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 61:762-764.
5. Beutler E (2003) The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood 101:3347-3350.
6. Beutler E, Felitti VJ, Koziol JA, et al. (2002) Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359:211-218.
7. Beutler E, Gelbart T, West C, et al. (1996) Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 22:187-194.
8. Beutler E, West C (1997) New diallelic markers in the HLA region of chromosome 6. Blood Cells Mol Dis 23:219-229.
9. Bridle KR, Frazer DM, Wilkins SJ, et al. (2003) Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homeostasis. Lancet 361: 669-673.
10. Carmel I, Tal S, Vig I, Ast G (2004) Comparative analysis detects dependencies among the 50 splice-site positions. RNA 10: 828-840.
11. Davies PS, Enns CA (2004) Expression of the hereditary hemochromatosis protein HFE increases ferritin levels by inhibiting iron export in HT29 cells. J Biol Chem 279:25085-25092.
12. De Lucas AP, Fulgencio MG, Robles JM, et al. (2005) Is the IVS2p4 T=C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population. Genet Med 7:212-213.
13. De Villiers JNP, Hillermann R, Loubser L, Kotze MJ (1999) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. Hum Mol Genet 8:1517-1522.
14. Drakesmith H, Sweetland E, Schimanski L, et al. (2002) The hemochromatosis protein HFE inhibits iron export from macrophages. Proc Natl Acad Sci USA 99:15602-15607.
15. Feder JN, Gnirke A, Thomas W, et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 13:399-408.
16. Feder JN, Tsuchihashi Z, Irrinki A, et al. (1997) The hemochromatosis founder mutation in HLA-H disrupts b2- microglobulin interaction and cell surface expression. J Biol Chem 272:14025-14028.
17. Felsenstein J (1989). PHYLIP-phylogeny inference package (version 3.2). Cladistics 5:164-166.
18. Fleming RE, Britton RS (2006) Iron imports. VI HFE and regulation of intestinal iron absorption. Am J Physiol Gastrointest Liver Physiol 290:G590-G594.
19. Floreani A, Navaglia F, Basso D, et al. (2005) Intron 2 [IVS2, T-Cp4] HFE gene mutation associated with S65C causes alternative RNA splicing and is responsible for iron overload. Hepatol Res 33:57-60.
20. Fujii T, Ishitani A, Geraghty DE (1994) A soluble form of the HLA-G antigen is encoded by a messenger ribonucleic acid containing intron 4. J Immunol 153:5516-5524.
21. Galante PAF, Sakabe NJ, Kirschbaum-Slager N, de Souza SJ (2004) Detection and evaluation of intron retention events in the human transcriptome. RNA 10:757-765.
22. Goswami T, Andrews NC (2006) Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J Biol Chem 281:28494-28498.
23. Griffiths WJH, Cox TM (2003) Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells. J Histochem Cytochem 51:613-623.
24. Gross CN, Irrinki A, Feder JN, Enns CA (1998) Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation. J Biol Chem 273:22068-22074.
25. Guthrie C, Patterson B (1988) Spliceosomal snRNAs. Annu Rev Genet 22:387-419.
26. Hanson EH, Imperatore G, Burke W (2001) HFE gene and hereditary hemochromatosis: a HuGe review. Am J Epidemiol 154:193-206.
27. Holmström P, Marmur J, Eggertsen G, et al. (2002) Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls. Gut 51:723-730.
28. Ishitani A, Geraghty DE (1992) Alternative splicing of HLA-G transcripts yields proteins with primary structures resembling both class I and class II antigens. Proc Natl Acad Sci USA 89:3947-3951.
29. Jackson HA, Carter K, Darke C, et al. (2001) HFE mutations, iron deficiency and overload in 10,500 blood donors. Br J Haematol 114:474-484.
30. Jeffrey GP, Basclain K, Hajek J, et al. (1999) Alternate splicing produces a soluble form of the hereditary hemochromatosis protein Hfe. Blood Cells Mol Dis 25:61-67.
31. Kirszenbaum M, Moreau P, Gluckman E, et al. (1994) An alternatively spliced form of HLA-G mRNA in human trophoblasts and evidence for the presence of HLA-G transcript in adult lymphocytes. Proc Natl Acad Sci USA 91: 4209-4213.
32. 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 93:111-123.
33. Lieu PT, Heiskala M, Peterson PA, et al. (2001) The roles of iron in health and disease. Mol Asp Med 22:1-87.
34. Ludwiczek S, Theurl I, Artner-Dworzak E, et al. (2004) Duodenal HFE expression and hepcidin levels determine body iron homeostasis: modulation by genetic diversity and dietary iron availability. J Mol Med 82:373-382.
35. Lund M, Kjems J (2002) Defining a 50 splice site by functional selection in the presence and absence of U1 snRNA 50 end. RNA 8:166-179.
36. Makui H, Soares RJ, Jiang W, et al. (2005) Contribution of Hfe expression in macrophages to the regulation of hepatic hepcidin levels and iron loading. Blood 106:2189-2195.
37. McCullough AJ, Berget SM (1997) G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection. Mol Cell Biol 17:4562-4571.
38. McCune CA, Al-Jader LN, Hayes AMSL, et al. (2002) Hereditary haemochromatosis: only 1% of adult HFE C282Y homozygotes in South Wales have a clinical diagnosis of iron overload. Hum Genet 111:538-543.
39. Merryweather-Clarke AT, Pointon JJ, Jouanolle AN, et al. (2000) Geography of HFE C282Y and H63D mutations. Genet Test 4:183-198.
40. Mikhailova SV, Onopchenko OV, Sukhanov AV, et al. (2006) Haplotypic analysis for the HFE gene in Russian populations and in patients with common diseases. Herald Vavilov Soc Genet Breed Sci 10:504-513 (In Russian).
41. Montosi G, Paglia P, Garuti C, et al. (2000) Wild-type HFE protein normalizes transferrin iron accumulation in macrophages from subjects with hereditary hemochromatosis. Blood 96: 1125-1129.
42. Mura C, Raguenes O, Ferec C (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 93:2502-2505.
43. Nagai K, Muto Y, Pomeranz Krummel DA, et al. (2001) Structure and assembly of the spliceosomal snRNPs. Biochem Soc Trans 29:15-26.
44. Nicolas G, Bennoun M, Devaux I, et al. (2001) Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci USA 98:8780-8785.
45. Parkkila S, Waheed A, Britton RS, et al. (1997a) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci USA 94:13198-13202.
46. Parkkila S, Waheed A, Britton RS, et al. (1997b) 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 94:2534-2539.
47. Pietrangelo A (2003) Haemochromatosis. Gut 52:ii23-ii30.
48. Potekhina ES, Lavrov AV, Samokhodskaya LM, et al. (2005) Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients. Blood Cells Mol Dis 35:182-188.
49. Rhodes DA, Trowsdale J (1999) Alternate splice variants of the hemochromatosis gene Hfe. Immunogenetics 49:357-359.
50. Rochette J, Pointon JJ, Fisher CA, et al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet 64:1056-1062.
51. Rogozin IB, Milanesi L (1997) Analysis of donor splice sites in different eukaryotic organisms. J Mol Evol 45:50-59.
52. Salter-Cid L, Peterson PA, Yang Y (2000) The major histocompatibility complex-encoded HFE in iron homeostasis and immune function. Immunol Res 22:43-59.
53. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
54. Sánchez M, Bruguera M, Rodés J, Oliva R (2001) Complete characterization of the 30 region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms. Blood Cells Mol Dis 27:35-43.
55. Shawer SM, Vyas JM, Rodgers JR, Rich RR (1994) Antigen presentation by major histocompatibility complex class 1-b molecules. Annu Rev Immunol 12:839-880.
56. Sorek R, Ast G (2003) Intronic sequences flanking alternatively spliced exons are conserved between human and mouse. Genome Res 13:1631-1637.
57. Steiner M, Ocran K, Genschel J, et al. (2002) A homozygous HFE gene splice site mutation (IVS5p1 G=A) in a hereditary hemochromatosis patient of Vietnamese origin. Gastroenterology 122:789-795.
58. Thenie A, Orhant M, Gicquel I, et al. (2000) The HFE gene undergoes alternate splicing processes. Blood CellsMolDis 26:155-162.
59. Toomajian C, Kreitman M (2002) Sequence variation and haplotype structure at the human HFE locus. Genetics 161:1609-1623.
60. Vogt TM, Blackwell AD, Giannetti AM, et al. (2003) Heterotypic interactions between transferrin receptor and transferrin receptor 2. Blood 10:2008-2014.
61. Waheed A, Grubb JH, Zhou XY, et al. (2002) Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci USA 99:3117-3122.
62. Waheed A, Parkkila S, Zhou XY, et al. (1997) Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with b2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci USA 94:12384-12389.
63. Yeo GW, Van Nostrand EL, Liang TY (2007) Discovery and analysis of evolutionarily conserved intronic splicing regulatory elements. PLoS Genet 3:0814-0829.
64. Zhang A-S, Xiong S, TsukamotoH, Enns CA(2004) Localization of iron metabolism- related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes. Blood 103:1509-1514.
65. Zhang XH-F, Leslie CS, Chasin LA (2005) Dichotomous splicing signals in exon flanks. Genome Res 15:768-779.