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Volumn 24, Issue 2, 1998, Pages 199-215

The human Nramp2 gene: Characterization of the gene structure, alternative splicing, promoter region and polymorphisms

Author keywords

Alternative splicing; Gene structure; Hemochromatosis; Hypoxia inducible factor 1; Iron responsive element; Metal response element; Nramp

Indexed keywords

ARTICLE; GENE MUTATION; GENE STRUCTURE; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; IRON TRANSPORT; MICROCYTIC ANEMIA; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING;

EID: 0032104739     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1998.0186     Document Type: Article
Times cited : (278)

References (15)
  • 1
    • 0028962892 scopus 로고
    • Identification and characterization of a second mouse Nramp gene
    • 1. Gruenheid S, Cellier M, Vidal S, Gros P. Identification and characterization of a second mouse Nramp gene. Genomics 25:514-525, 1995.
    • (1995) Genomics , vol.25 , pp. 514-525
    • Gruenheid, S.1    Cellier, M.2    Vidal, S.3    Gros, P.4
  • 2
    • 0030755366 scopus 로고    scopus 로고
    • Cloning and characterization of a mammalian proton-coupled metal-ion transporter
    • 2. Gunshin H, Mackenzie B, Berger UV, et al. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature 388:482-488, 1997.
    • (1997) Nature , vol.388 , pp. 482-488
    • Gunshin, H.1    Mackenzie, B.2    Berger, U.V.3
  • 3
    • 0030763856 scopus 로고    scopus 로고
    • Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene
    • 3. Fleming MD, Trenor CC3, Su MA, et al. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat Genet 16:383-386, 1997.
    • (1997) Nat Genet , vol.16 , pp. 383-386
    • Fleming, M.D.1    Trenor, C.C.2    Su, M.A.3
  • 4
    • 0032477866 scopus 로고    scopus 로고
    • Nramp2 is mutated in the anemic belgrade (b) rat: Evidence of a role for nramp2 in endosomal iron transport
    • 4. Fleming MD, Romano MA, Su MA, Garrick LM, Garrick MD, Andrews NC. Nramp2 is mutated in the anemic belgrade (b) rat: evidence of a role for nramp2 in endosomal iron transport. Proc Natl Acad Sci USA 95:1148-1153, 1998.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1148-1153
    • Fleming, M.D.1    Romano, M.A.2    Su, M.A.3    Garrick, L.M.4    Garrick, M.D.5    Andrews, N.C.6
  • 5
    • 0021770224 scopus 로고
    • Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs
    • 5. Kozak M. Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs. Nucleic Acids Res 12:857-872, 1984.
    • (1984) Nucleic Acids Res , vol.12 , pp. 857-872
    • Kozak, M.1
  • 6
    • 0031407045 scopus 로고    scopus 로고
    • Complete nucleotide sequence of human NRAMP2 cDNA
    • 6. Kishi F, Tabuchi M. Complete nucleotide sequence of human NRAMP2 cDNA. Mol Immunol 34:839-842, 1997.
    • (1997) Mol Immunol , vol.34 , pp. 839-842
    • Kishi, F.1    Tabuchi, M.2
  • 7
    • 0029171790 scopus 로고
    • Genomic organization and sequence of the human NRAMP gene: Identification and mapping of a promoter region polymorphism
    • 7. Blackwell JM, Barton CH, White JK, et al. Genomic organization and sequence of the human NRAMP gene: identification and mapping of a promoter region polymorphism. Molecular Medicine 1:194-205, 1995.
    • (1995) Molecular Medicine , vol.1 , pp. 194-205
    • Blackwell, J.M.1    Barton, C.H.2    White, J.K.3
  • 8
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • 8. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucl Acids Res 15:7155-7174, 1987.
    • (1987) Nucl Acids Res , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 10
    • 0026468180 scopus 로고
    • A nuclear factor induced by hypoxia via de novo protein synthesis binds to the human erythropoietin gene enhancer at a site required for transcriptional activation
    • 10. Semenza GL, Wang GL. A nuclear factor induced by hypoxia via de novo protein synthesis binds to the human erythropoietin gene enhancer at a site required for transcriptional activation. Mol Cell Biol 12:5447-5454, 1992.
    • (1992) Mol Cell Biol , vol.12 , pp. 5447-5454
    • Semenza, G.L.1    Wang, G.L.2
  • 11
    • 0024246416 scopus 로고
    • A model for the structure and functions of iron-responsive elements
    • 11. Hentze MW, Caughman SW, Casey JL, et al. A model for the structure and functions of iron-responsive elements. Gene 72:201-208, 1988.
    • (1988) Gene , vol.72 , pp. 201-208
    • Hentze, M.W.1    Caughman, S.W.2    Casey, J.L.3
  • 12
    • 0028040512 scopus 로고
    • Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions
    • 12. Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 3:1647-1656, 1994.
    • (1994) Hum Mol Genet , vol.3 , pp. 1647-1656
    • Petrukhin, K.1    Lutsenko, S.2    Chernov, I.3    Ross, B.M.4    Kaplan, J.H.5    Gilliam, T.C.6
  • 13
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • 13. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet 13:399-408, 1996.
    • (1996) Nature Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 14
    • 13144259692 scopus 로고    scopus 로고
    • Juvenile and adult hemochromatosis are distinct genetic disorders
    • 14. Camaschella C, Roetto A, Cicilano M, et al. Juvenile and adult hemochromatosis are distinct genetic disorders. Eur J Hum Genet 5:371-375, 1997.
    • (1997) Eur J Hum Genet , vol.5 , pp. 371-375
    • Camaschella, C.1    Roetto, A.2    Cicilano, M.3
  • 15
    • 0030221927 scopus 로고    scopus 로고
    • Mutation analysis in hereditary hemochromatosis
    • 15. Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 22:187-194, 1996.
    • (1996) Blood Cells Mol Dis , vol.22 , pp. 187-194
    • Beutler, E.1    Gelbart, T.2    West, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.