SEARCH:   Advanced

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Bekri, S. Articles by Bishop, D. F. Search for Related Content PubMed PubMed Citation Articles by Bekri, S. Articles by Bishop, D. F. Related Collections Red Cells Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 1 November 2000, Vol. 96, No. 9, pp. 3256-3264 RED CELLS Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation Soumeya Bekri, Gyula Kispal, Heike Lange, Edward Fitzsimons, John Tolmie, Roland Lill, and David F. Bishop From the Department of Human Genetics, Mount Sinai School of Medicine, New York, NY; the Institut für Zytobiologie der Philipps-Universität Marburg, Marburg, Germany; and the Department of Haematology, Western Infirmary and the Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK. The human protein ABC7 belongs to the adenosine triphosphate-binding cassette transporter superfamily, and its yeast orthologue, Atm1p, plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins. Previously, a missense mutation in the human ABC7 gene was shown to be the defect in members of a family affected with X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A). Here, the promoter region and the intron/exon structure of the human ABC7 gene were characterized, and the function of wild-type and mutant ABC7 in cytosolic Fe/S protein maturation was analyzed. The gene contains 16 exons, all with intron/exon boundaries following the AG/GT rule. A single missense mutation was found in exon 10 of the ABC7 gene in 2 affected brothers with XLSA/A. The mutation was a G-to-A transition at nucleotide 1305 of the full-length cDNA, resulting in a charge inversion caused by the substitution of lysine for glutamate at residue 433 C-terminal to the putative sixth transmembrane domain of ABC7. Expression of normal ABC7 almost fully complemented the defect in the maturation of cytosolic Fe/S proteins in a yeast strain in which the ATM1 gene had been deleted (atm1 cells). Thus, ABC7 is a functional orthologue of Atm1p. In contrast, the expression of mutated ABC7 (E433K) or Atm1p (D398K) proteins in atm1 cells led to a low efficiency of cytosolic Fe/S protein maturation. These data demonstrate that both the molecular defect in XLSA/A and the impaired maturation of a cytosolic Fe/S protein result from an ABC7 mutation in the reported family. © 2000 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: L. Malcovati, M. G. Della Porta, D. Pietra, E. Boveri, A. Pellagatti, A. Galli, E. Travaglino, A. Brisci, E. Rumi, F. Passamonti, et al. Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis Blood, October 22, 2009; 114(17): 3538 - 3545. [Abstract] [Full Text] [PDF] A. Naranuntarat, L. T. Jensen, S. Pazicni, J. E. Penner-Hahn, and V. C. Culotta The Interaction of Mitochondrial Iron with Manganese Superoxide Dismutase J. Biol. Chem., August 21, 2009; 284(34): 22633 - 22640. [Abstract] [Full Text] [PDF] A. Iolascon, L. De Falco, and C. Beaumont Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis Haematologica, March 1, 2009; 94(3): 395 - 408. [Abstract] [Full Text] [PDF] O. Stehling, D. J. A. Netz, B. Niggemeyer, R. Rosser, R. S. Eisenstein, H. Puccio, A. J. Pierik, and R. Lill Human Nbp35 Is Essential for both Cytosolic Iron-Sulfur Protein Assembly and Iron Homeostasis Mol. Cell. Biol., September 1, 2008; 28(17): 5517 - 5528. [Abstract] [Full Text] [PDF] M. A. Burke, R. K. Mutharasan, and H. Ardehali The Sulfonylurea Receptor, an Atypical ATP-Binding Cassette Protein, and Its Regulation of the KATP Channel Circ. Res., February 1, 2008; 102(2): 164 - 176. [Abstract] [Full Text] [PDF] Y. Abdul Jalil, V. Ritz, A. Jakimenko, C. Schmitz-Salue, H. Siebert, D. Awuah, A. Kotthaus, T. Kietzmann, C. Ziemann, and K. I. Hirsch-Ernst Vesicular localization of the rat ATP-binding cassette half-transporter rAbcb6 Am J Physiol Cell Physiol, February 1, 2008; 294(2): C579 - C590. [Abstract] [Full Text] [PDF] M. Cazzola, M. G. Della Porta, and L. Malcovati Clinical Relevance of Anemia and Transfusion Iron Overload in Myelodysplastic Syndromes Hematology, January 1, 2008; 2008(1): 166 - 175. [Abstract] [Full Text] [PDF] C. Camaschella, A. Campanella, L. De Falco, L. Boschetto, R. Merlini, L. Silvestri, S. Levi, and A. Iolascon The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload Blood, August 15, 2007; 110(4): 1353 - 1358. [Abstract] [Full Text] [PDF] C. Pondarre, D. R. Campagna, B. Antiochos, L. Sikorski, H. Mulhern, and M. D. Fleming Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis Blood, April 15, 2007; 109(8): 3567 - 3569. [Abstract] [Full Text] [PDF] P. Cavadini, G. Biasiotto, M. Poli, S. Levi, R. Verardi, I. Zanella, M. Derosas, R. Ingrassia, M. Corrado, and P. Arosio RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload Blood, April 15, 2007; 109(8): 3552 - 3559. [Abstract] [Full Text] [PDF] S. Lyoumi, M. Abitbol, V. Andrieu, D. Henin, E. Robert, C. Schmitt, L. Gouya, H. de Verneuil, J.-C. Deybach, X. Montagutelli, et al. Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice Blood, January 15, 2007; 109(2): 811 - 818. [Abstract] [Full Text] [PDF] C. Fosset, M.-J. Chauveau, B. Guillon, F. Canal, J.-C. Drapier, and C. Bouton RNA Silencing of Mitochondrial m-Nfs1 Reduces Fe-S Enzyme Activity Both in Mitochondria and Cytosol of Mammalian Cells J. Biol. Chem., September 1, 2006; 281(35): 25398 - 25406. [Abstract] [Full Text] [PDF] C. Pondarre, B. B. Antiochos, D. R. Campagna, S. L. Clarke, E. L. Greer, K. M. Deck, A. McDonald, A.-P. Han, A. Medlock, J. L. Kutok, et al. The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis Hum. Mol. Genet., March 15, 2006; 15(6): 953 - 964. [Abstract] [Full Text] [PDF] R. A. Schoenfeld, E. Napoli, A. Wong, S. Zhan, L. Reutenauer, D. Morin, A. R. Buckpitt, F. Taroni, B. Lonnerdal, M. Ristow, et al. Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells Hum. Mol. Genet., December 15, 2005; 14(24): 3787 - 3799. [Abstract] [Full Text] [PDF] I. Napier, P. Ponka, and D. R. Richardson Iron trafficking in the mitochondrion: novel pathways revealed by disease Blood, March 1, 2005; 105(5): 1867 - 1874. [Abstract] [Full Text] [PDF] H. Lange, U. Muhlenhoff, M. Denzel, G. Kispal, and R. Lill The Heme Synthesis Defect of Mutants Impaired in Mitochondrial Iron-Sulfur Protein Biogenesis Is Caused by Reversible Inhibition of Ferrochelatase J. Biol. Chem., July 9, 2004; 279(28): 29101 - 29108. [Abstract] [Full Text] [PDF] J. Gerber, K. Neumann, C. Prohl, U. Muhlenhoff, and R. Lill The Yeast Scaffold Proteins Isu1p and Isu2p Are Required inside Mitochondria for Maturation of Cytosolic Fe/S Proteins Mol. Cell. Biol., June 1, 2004; 24(11): 4848 - 4857. [Abstract] [Full Text] [PDF] C.-A. Chen and J. A. Cowan Characterization of the Soluble Domain of the ABC7 Type Transporter Atm1 J. Biol. Chem., December 26, 2003; 278(52): 52681 - 52688. [Abstract] [Full Text] [PDF] R. J. Crisp, A. Pollington, C. Galea, S. Jaron, Y. Yamaguchi-Iwai, and J. Kaplan Inhibition of Heme Biosynthesis Prevents Transcription of Iron Uptake Genes in Yeast J. Biol. Chem., November 14, 2003; 278(46): 45499 - 45506. [Abstract] [Full Text] [PDF] S. Taketani, K. Kakimoto, H. Ueta, R. Masaki, and T. Furukawa Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase Blood, April 15, 2003; 101(8): 3274 - 3280. [Abstract] [Full Text] [PDF] C. Bouton, M.-J. Chauveau, S. Lazereg, and J.-C. Drapier Recycling of RNA Binding Iron Regulatory Protein 1 into an Aconitase after Nitric Oxide Removal Depends on Mitochondrial ATP J. Biol. Chem., August 16, 2002; 277(34): 31220 - 31227. [Abstract] [Full Text] [PDF] U. Muhlenhoff, N. Richhardt, M. Ristow, G. Kispal, and R. Lill The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins Hum. Mol. Genet., August 15, 2002; 11(17): 2025 - 2036. [Abstract] [Full Text] [PDF] C. N. Roy and N. C. Andrews Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers Hum. Mol. Genet., October 1, 2001; 10(20): 2181 - 2186. [Abstract] [Full Text] [PDF] M. D. Fleming, D. R. Campagna, J. N. Haslett, C. C. Trenor III, and N. C. Andrews A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice Genes & Dev., March 15, 2001; 15(6): 652 - 657. [Abstract] [Full Text] R. Kim, S. Saxena, D. M. Gordon, D. Pain, and A. Dancis J-domain Protein, Jac1p, of Yeast Mitochondria Required for Iron Homeostasis and Activity of Fe-S Cluster Proteins J. Biol. Chem., May 11, 2001; 276(20): 17524 - 17532. [Abstract] [Full Text] [PDF]

	Copyright © 2000 by American Society of Hematology         Online ISSN: 1528-0020