Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia

Journal of Human Genetics

Volumn 43, Issue 2, 1998, Pages 115-122

  Shimada, Yoshikazu ^a   Okuno, Shiro ^a   Kawai, Atushi ^a   Shinomiya, Hiroichi ^a   Saito, Akihiko ^a   Suzuki, Mikio ^a   Omori, Yoshihiro ^a   Nishino, Naoki ^a   Kanemoto, Naohide ^a   Fujiwara, Tsutomu ^a   Horie, Masato ^a   Takahashi, Ei Ichi ^a  

^a OTSUKA PHARMACEUTICAL CO LTD   (Japan)

Author keywords

ABC transporter; Heme; Mitochondria; X linked sideroblastic anemia with spinocerebellar ataxia; Xq13

Indexed keywords

ATAXIA;

5 AMINOLEVULINATE SYNTHASE; ABC TRANSPORTER; ABCB7 PROTEIN, HUMAN; COMPLEMENTARY DNA; HEME; ISOENZYME; NERVE PROTEIN; PLASMA PROTEIN;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; BRAIN; CHROMOSOME BANDING PATTERN; CHROMOSOME MAP; COMPARATIVE STUDY; CYTOSOL; ENZYMOLOGY; ERYTHROCYTE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENETICS; HUMAN; INTRACELLULAR MEMBRANE; METABOLISM; MITOCHONDRION; MOLECULAR CLONING; MOLECULAR GENETICS; MOUSE; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; SACCHAROMYCES CEREVISIAE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SIDEROBLASTIC ANEMIA; SPECIES DIFFERENCE; SPINOCEREBELLAR DEGENERATION; TRANSPORT AT THE CELLULAR LEVEL; X CHROMOSOME;

5-AMINOLEVULINATE SYNTHETASE; AMINO ACID SEQUENCE; ANEMIA, SIDEROBLASTIC; ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; BIOLOGICAL TRANSPORT; BLOOD PROTEINS; BRAIN; CHROMOSOME BANDING; CHROMOSOME MAPPING; CLONING, MOLECULAR; CYTOSOL; DNA, COMPLEMENTARY; ERYTHROCYTES; GENES; HEME; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRACELLULAR MEMBRANES; ISOENZYMES; MICE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; SACCHAROMYCES CEREVISIAE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY; SPINOCEREBELLAR DEGENERATIONS; X CHROMOSOME;

EID: 0031616020     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050051     Document Type: Article

References (45)

1. Allikmets R, Gerrard B, Hutchinson A, Dean M (1996) Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. Hum Mol Genet 5, 1649-1655
2. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski J (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15: 236-246
3. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215: 403-410
4. Balzi E, Wang M, Leterme S, Dyck LV, Goffeau A (1994) PDR5, a novel yeast multidrug resistance-conferring transporter controlled by the transcription regulator PDR1. J Biol Chem 269: 2206-2214
5. Bishop DF, Kitchen H, Wood WA (1981) Evidence for erythroid and nonerythroid forms of delta-aminolevulinate synthetase. Arch Biochem Biophys 206: 380-391
6. Bishop DF, Henderson AS, Astrin KH (1990) Human δ-aminolevulinate synthase: Assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. Genomics 7: 207-214
7. Bissinger PH, Kuchler K (1994) Molecular cloning and expression of the Saccharomyces cercvisiae STS1 gene product. A yeast ABC transporter conferring mycotoxin resistance. J Biol Chem 269: 4180-4186
8. Bottomley SS (1982) Sideroblastic anaemia. Clin Haematol 11: 389-409
9. Contreras M, Mosser J, Mandel JL, Aubourg P, Singh I (1994) The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein. FEBS Lett 344: 211-215
10. Cotter PD, Baumann M, Bishop DF (1992) Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc Natl Acad Sci USA 89: 4028-4032
11. Cotter PD, Rucknagel DL, Bishop DF (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
12. Cox TC, Bottomley SS, Wiley JS, Bawden MJ, Matthews CS, May BK (1994) X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. N Engl J Med 330: 675-679
13. Dean M, Allikmets R (1995) Evolution of ATP-binding cassette transporter genes. Curr Opin Genet Dev 5: 779-785
14. Decottignies A, Goffeau A (1997) Complete inventory of the yeast ABC proteins. Nat Genet 15: 137-145
15. Gartner J, Moser H, Valle D (1992) Mutations in the 70 K peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet 1: 16-23
16. Goffeau A, Barrell BG, Bussey H, Davis RW, Dujon B, Feldmann H, Galibert F, Hoheisei JD, Jacq C, Johnston M, Louis EJ, Mewes W, Murakami Y, Philippsen P, Tettelin H, Oliver SG (1996) Life with 6000 genes. Science 274: 546-567
17. Harada K, Ohmori S, Kim Y, Tomokuni K (1995) Metabolic fate of porphyrin and its precursors in porphyria and porphyrinuria (in Japanese). Nippon Rinsho 53: 1349-1356
18. Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1: 1151-1155
19. Hirata D, Yano K, Miyahara K, Miyakawa T (1994) Saccharomyces cerevisiae YDR1, which encodes a member of the ATP-binding cassette (ABC) superfamily, is required for multidrug resistance. Curr Genet 26: 285-294
20. Hyde SC, Emsley P, Hartshorn MJ, Mimmack MM, Gileadi U, Pearce SR, Gallagher MP, Gill DR, Hubbard RE, Higgins CF (1990) Structural model of ATP-binding proteins associated with cystic fibrosis. multidrug resistance and bacterial transport. Nature 346: 362-365
21. Kamijo K, Taketani S, Yokota S, Osumi T, Hashimoto T (1990) The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily. J Biol Chem 265: 4534-4540
22. Kasturi J, Basha HM, Smeda SH, Swehli M (1982) Hereditary sideroblastic anemia in 4 siblings of Libyan family autosomal inheritance. Acta Haematol 68: 321-324
23. Kozak M (1991) Structural features in eukaryotic mRNAs that modulate the initiation of translation. J Biol Chem 266: 19867-19870
24. Kuchler K, Sterne RE, Thorner J (1989) Saccharomyces cerevisiae STE6 gene product: novel pathway for protein export in eukaryotic tells. EMBO J 8: 3973-3984
25. Kyte J, Doolittle RF (1982) A simple method for displaying the hydropathic character of a protein J Mol Biol 157: 105-132
26. Lee CC, Wu XW, Caskey CT (1989) Cloning the full-length cDNA for the porcine urate oxidase by the MOPAC-generated probe. Adv Exp Med Biol 253: 499-505
27. Leighton J, Schatz G (1995) An ABC transporter in the mitochondrial inner membrane is required for normal growth of yeast. EMBO J 14: 188-195
28. May A, Fitzsimons E (1994) Sideroblastic anaemia. Baillieres Clin Haematol 7, 851-879
29. McGrath JP, Varshavsky (1989) The yeast STE6 gene encodes a homologue of the mammalian multidrug resistance P-glycoprotein. Nature 340: 400-404
30. Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel L, Aubourg P (1993) Putative X-linked adrenolcukodystrophy gene shares unexpected homology with ABC transporters. Nature 361: 726-730
31. Nakai K (1991) Predicting various targeting Signals in amino acid sequences. Bull Inst Chem Res 69: 269-291
32. Nakai K, Kanehisa M (1992) A knowledge base for predicting protein localization site in eukaryotic cells. Genomics 14: 897-911
33. Ortiz DF, Ruscitti T, McCue KF, Ow DW (1995) Transport of metal-binding peptides by HMT1, a fission yeast ABC-type vacuolar membrane protein. J Biol Chem 270: 4721-4728
34. Pearson WR, Lipman DJ (1988) Improved tools for biological sequences comparison. Proc Natl Acad Sci USA 85: 2444-2448
35. Prades E, Chambon C, Dailey TA, Dailey HA, Briere J, Grandchamp B (1995) A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. Hum Genet 95: 424-428
36. Raskind WH, Wijsman E, Pagon RA, Cox TC, Bawden MJ, May BK, Brid TD (1991) X-linked sideroblastic anemia and ataxia: Linkage to phosphoglycerate kinase at Xq13. Am J Hum Genet 48: 335-341
37. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou L (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 1066-1073
38. Sasaki H, Daimon M, Morita Y (1995) Acute porphyria. In: Urabe M, Kudou Y, Kondo M, Sasaki H, Nishide H, Hayashi N (eds) Polphyline heme in life science. Gendaikagaku, supplement vol 27, Tokyokagakudoujin, Tokyo, pp 145-153
39. Sassa S, Nagai T (1994) The role of heme in gene expression. Int J Hematol 63: 167-178
40. Savary S, Allikmets R, Denizot F, Luciani MF, Mattei MG, Chimini G (1997) Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. Genomics 15: 275-278
41. Shani N, Watkins PA, Valle D (1995) PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene. Proc Natl Acad Sci USA 92: 6012-6016
42. Steiner HY, Naider F, Becker JM (1995) The PTR family: a new group of peptide transporters. Mol Microbiol 16: 825-834
43. Szczypka MS, Wemmie JA, Moye Rowley WS, Thiele DJ (1994) A yeast metal resistance protein similar to human cystic fibrosis trans-membrane conductance regulator (CFTR) and multidrug resistance-associated protein. J Biol Chem 269: 22853-22857
44. Takahashi E, Hori T, O'Connell P, Leppert M, White R (1990) R-banding and nomsotopic in situ hybridization: precise localization of the human type [I collagen gene (COL2A1). Hum Genet 86: 14-16
45. Takahaihi E, Yamaguchi M, Tuji H, Hitomi A, Meuth M, Hori T (1991) Chromosome mapping of the human cytidine-5′-triphosphate gene (CTPS) gene to band 1p34.1-1p34.3 by fluorescence in situ hybridization. Hum Genet 88: 119-121