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Volumn 8, Issue 5, 1999, Pages 743-749

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; CELL NUCLEUS DNA; COMPLEMENTARY DNA; IRON; MITOCHONDRIAL DNA;

EID: 0032920837     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.5.743     Document Type: Article
Times cited : (372)

References (42)
  • 1
    • 0001797873 scopus 로고    scopus 로고
    • Sideroblastic anemias
    • Lee, G.R., Foerster, J., Lukens, J. et al. (eds). Williams & Wilkins, Baltimore, MD
    • Bottomley, S.S. (1998) Sideroblastic anemias. In Lee, G.R., Foerster, J., Lukens, J. et al. (eds), Wintrobes Clinical Hematohgy, 10th Edn. Williams & Wilkins, Baltimore, MD, pp. 1022-1045.
    • (1998) Wintrobes Clinical Hematohgy, 10th Edn. , pp. 1022-1045
    • Bottomley, S.S.1
  • 2
    • 0031964371 scopus 로고    scopus 로고
    • Sideroblastic anemias: Variations on imprecision in diagnostic criteria, proposal for an extended classification of sideroblastic anemias
    • Koc, S. and Harris, J.W. (1998) Sideroblastic anemias: variations on imprecision in diagnostic criteria, proposal for an extended classification of sideroblastic anemias. Am. J. Hematol., 57, 1-6.
    • (1998) Am. J. Hematol. , vol.57 , pp. 1-6
    • Koc, S.1    Harris, J.W.2
  • 3
    • 0026952517 scopus 로고
    • Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia
    • Cox, T.C., Kozman, H.M., Raskind, W.H., May, B.K. and Mulley, J.C. (1992) Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia. Hum. Mol. Genet., 1, 639-641.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 639-641
    • Cox, T.C.1    Kozman, H.M.2    Raskind, W.H.3    May, B.K.4    Mulley, J.C.5
  • 4
    • 0026603687 scopus 로고
    • Enzymatic defect in 'X-linked' sideroblastic anemia: Molecular evidence for erythroid delta-aminolevulinate synthase deficiency
    • Cotter, P.D., Baumann, M. and Bishop, D.F. (1992) Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc. Natl Acad. Sci. USA, 89, 4028-4032.
    • (1992) Proc. Natl Acad. Sci. USA , vol.89 , pp. 4028-4032
    • Cotter, P.D.1    Baumann, M.2    Bishop, D.F.3
  • 5
    • 0028148438 scopus 로고
    • X-linked sideroblastic anemia: Identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley
    • Cotter, P.D., Rucknagel, D.L. and Bishop, D.F. (1994) X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Blood, 84, 3915-3924.
    • (1994) Blood , vol.84 , pp. 3915-3924
    • Cotter, P.D.1    Rucknagel, D.L.2    Bishop, D.F.3
  • 6
    • 0021926630 scopus 로고
    • Hereditary sideroblastic anaemia and ataxia: An X linked recessive disorder
    • Pagon, R.A., Bird, T.D., Detter, J.C. and Pierce, I. (1985) Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. J. Med. Genet., 22, 267-273.
    • (1985) J. Med. Genet. , vol.22 , pp. 267-273
    • Pagon, R.A.1    Bird, T.D.2    Detter, J.C.3    Pierce, I.4
  • 8
    • 0029586715 scopus 로고
    • Evolution of ATP-binding cassette transporter genes
    • Dean, M. and Allikmets, R. (1995) Evolution of ATP-binding cassette transporter genes. Curr. Opin. Genet. Dev., 5, 779-785.
    • (1995) Curr. Opin. Genet. Dev. , vol.5 , pp. 779-785
    • Dean, M.1    Allikmets, R.2
  • 9
    • 0028855545 scopus 로고
    • An ABC transporter in the mitochondrial inner membrane is required for normal growth of yeast
    • Leighton, J. and Schatz, G. (1995) An ABC transporter in the mitochondrial inner membrane is required for normal growth of yeast. EMBO J., 14, 188-195.
    • (1995) EMBO J. , vol.14 , pp. 188-195
    • Leighton, J.1    Schatz, G.2
  • 10
    • 0030776037 scopus 로고    scopus 로고
    • Identification of a fourth half ABC transporter in the human peroxisomal membrane
    • Shani, N., Jimenez-Sanchez, G., Steel, G., Dean, M. and Valle, D. (1997) Identification of a fourth half ABC transporter in the human peroxisomal membrane. Hum. Mol. Genet., 6, 1925-1931.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1925-1931
    • Shani, N.1    Jimenez-Sanchez, G.2    Steel, G.3    Dean, M.4    Valle, D.5
  • 11
    • 0025604835 scopus 로고
    • A gene in the human major histocompatibility complex class II region controlling the class I antigen presentation pathway
    • Spies, T., Bresnahan, M., Bahram, S., Arnold, D., Blanck, G., Mellins, E., Pious, D. and DeMars, R. (1990) A gene in the human major histocompatibility complex class II region controlling the class I antigen presentation pathway. Nature, 348, 744-747.
    • (1990) Nature , vol.348 , pp. 744-747
    • Spies, T.1    Bresnahan, M.2    Bahram, S.3    Arnold, D.4    Blanck, G.5    Mellins, E.6    Pious, D.7    DeMars, R.8
  • 12
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of the complementary DNA
    • Riordan, J.R., Rommens, J.M., Kerem, B. et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of the complementary DNA. Science, 245, 1066-1073.
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.3
  • 14
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • Allikmets, R., Singh, N., Sun, H. et al. (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet., 15, 236-246.
    • (1997) Nature Genet. , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 15
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • Allikmets, R., Shroyer, N.F., Singh, N. et al. (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science, 277, 1805-1807.
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.F.2    Singh, N.3
  • 17
    • 6844259885 scopus 로고    scopus 로고
    • Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
    • Cremers, F.P.M., van de Pol, D.J., van Driel, M. et al. (1998) Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum. Mol. Genet., 7, 355-362.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 355-362
    • Cremers, F.P.M.1    Van De Pol, D.J.2    Van Driel, M.3
  • 18
    • 0030608677 scopus 로고    scopus 로고
    • The ABC transporter Atm1p is required for mitochondrial iron homeostasis
    • Kispal, G., Csere, P., Guiard, B. and Lill, R. (1997) The ABC transporter Atm1p is required for mitochondrial iron homeostasis. FEBS Lett., 418, 346-350.
    • (1997) FEBS Lett. , vol.418 , pp. 346-350
    • Kispal, G.1    Csere, P.2    Guiard, B.3    Lill, R.4
  • 19
    • 0030825723 scopus 로고    scopus 로고
    • Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
    • Wilson, R.B. and Roof, D.M. (1997) Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nature Genet., 16, 352-357.
    • (1997) Nature Genet. , vol.16 , pp. 352-357
    • Wilson, R.B.1    Roof, D.M.2
  • 21
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano, V., Montermini, L., Molto, M.D. et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 271, 1423-1427.
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3
  • 22
    • 0029820166 scopus 로고    scopus 로고
    • Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the EST database
    • Allikmets, R., Hutchinson, A., Gerrard, B. and Dean, M. (1996) Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the EST database. Hum. Mol. Genet., 5, 1649-1655.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1649-1655
    • Allikmets, R.1    Hutchinson, A.2    Gerrard, B.3    Dean, M.4
  • 23
    • 0031569858 scopus 로고    scopus 로고
    • Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human
    • Savary, S., Allikmets, R., Denizot, F., Luciani, M.F., Mattei, M.G., Dean, M. and Chimini, G. (1997) Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. Genomics, 41, 275-278.
    • (1997) Genomics , vol.41 , pp. 275-278
    • Savary, S.1    Allikmets, R.2    Denizot, F.3    Luciani, M.F.4    Mattei, M.G.5    Dean, M.6    Chimini, G.7
  • 26
    • 0030813487 scopus 로고    scopus 로고
    • Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
    • Koutnikova, H., Campuzano, V., Foury, F., Dolle, P., Cazzalini, O. and Koenig, M. (1997) Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nature Genet., 16, 345-351.
    • (1997) Nature Genet. , vol.16 , pp. 345-351
    • Koutnikova, H.1    Campuzano, V.2    Foury, F.3    Dolle, P.4    Cazzalini, O.5    Koenig, M.6
  • 27
    • 0031567601 scopus 로고    scopus 로고
    • Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
    • Foury, F. and Cazzalini, O. (1997) Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett., 411, 373-377.
    • (1997) FEBS Lett. , vol.411 , pp. 373-377
    • Foury, F.1    Cazzalini, O.2
  • 29
    • 0031056684 scopus 로고    scopus 로고
    • Complete inventory of the yeast ABC proteins
    • Decottignies, A. and Goffeau, A. (1997) Complete inventory of the yeast ABC proteins. Nature Genet., 15, 137-145.
    • (1997) Nature Genet. , vol.15 , pp. 137-145
    • Decottignies, A.1    Goffeau, A.2
  • 32
    • 0023084055 scopus 로고
    • Progressive sequence alignment as a prerequisite to correct phylogenetic trees
    • Feng, D.F. and Doolittle, R.F. (1987) Progressive sequence alignment as a prerequisite to correct phylogenetic trees. J. Mol. Evol., 25, 351-360.
    • (1987) J. Mol. Evol. , vol.25 , pp. 351-360
    • Feng, D.F.1    Doolittle, R.F.2
  • 33
    • 0021760092 scopus 로고
    • A comprehensive set of sequence analysis programs for the VAX
    • Devereux, J., Haeberli, P. and Smithies, O. (1984) A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res., 12, 387-395.
    • (1984) Nucleic Acids Res. , vol.12 , pp. 387-395
    • Devereux, J.1    Haeberli, P.2    Smithies, O.3
  • 36
    • 0021250450 scopus 로고
    • Evidence for a multistep pathogenesis of a myelodysplastic syndrome
    • Raskind, W.H., Tirumali, N., Jacobson, R., Singer, J. and Fialkow, P.J. (1984) Evidence for a multistep pathogenesis of a myelodysplastic syndrome. Blood, 63, 1318-1323.
    • (1984) Blood , vol.63 , pp. 1318-1323
    • Raskind, W.H.1    Tirumali, N.2    Jacobson, R.3    Singer, J.4    Fialkow, P.J.5
  • 37
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics, 5, 874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 38
    • 0027487271 scopus 로고
    • Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations
    • Glavac, D. and Dean, M. (1993) Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum. Mutat., 2, 404-414.
    • (1993) Hum. Mutat. , vol.2 , pp. 404-414
    • Glavac, D.1    Dean, M.2
  • 39
    • 0025994140 scopus 로고
    • Guide to yeast genetics and molecular biology
    • Guthrie, C. and Fink, G.R. (1991) Guide to yeast genetics and molecular biology. Methods Enzymol., 194, 3-21.
    • (1991) Methods Enzymol. , vol.194 , pp. 3-21
    • Guthrie, C.1    Fink, G.R.2
  • 40
    • 0026512310 scopus 로고
    • Increased dosage of a transcriptional activator gene enhances iron-limited growth of Saccharomyces cerevisiae
    • Eide, D. and Guarente, L. (1992) Increased dosage of a transcriptional activator gene enhances iron-limited growth of Saccharomyces cerevisiae. J. Gen. Microbiol., 138, 347-354.
    • (1992) J. Gen. Microbiol. , vol.138 , pp. 347-354
    • Eide, D.1    Guarente, L.2
  • 42
    • 0032414310 scopus 로고    scopus 로고
    • Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p
    • Csere, P., Lill, R. and Kispal, G. (1998) Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. FEBS Lett., 441, 266-270.
    • (1998) FEBS Lett. , vol.441 , pp. 266-270
    • Csere, P.1    Lill, R.2    Kispal, G.3


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