The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis

International Journal of Biochemistry and Cell Biology

Volumn 36, Issue 2, 2004, Pages 281-295

  Cox, Timothy C ^a   Sadlon, Timothy J ^a,c   Schwarz, Quenten P ^a   Matthews, Christopher S ^a   Wise, Phillip D ^b   Cox, Liza L ^a   Bottomley, Sylvia S ^b   May, Brian K ^a  

^a UNIVERSITY OF ADELAIDE   (Australia)

^b Univ of Oklahoma Coll of Medicine   (Japan)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

5 Aminolevulinate synthase; Catalytic activity; Mitochondrial import; Signal sequence; Splice variant

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; ISOENZYME;

AMINO ACID SEQUENCE; ARTICLE; CATALYSIS; ENZYME ACTIVITY; ERYTHROID CELL; EXON; HEME SYNTHESIS; HEMOGLOBIN SYNTHESIS; HUMAN; IN VITRO STUDY; IN VIVO STUDY; MITOCHONDRION; PROTEIN TRANSPORT; RNA SPLICING;

EID: 0344413737     PISSN: 13572725     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-2725(03)00246-2     Document Type: Article

References (41)

1. Bhasker C.R., Burgiel G., Neupert B., Emery-Goodman A., Kuhn L.C., May B.K. The putative iron-responsive element in the human erythroid 5-aminolevulinate synthase mRNA mediates translational control. Journal of Biological Chemistry. 268:1993;12699-12705.
2. Bishop D.F., Henderson A.S., Astrin K.H. Human δ-aminolevulinate synthase: Assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. Genomics. 7:1990;207-214.
3. Borthwick I.A., Srivastava G., Brooker J.D., May B.K., Elliott W.H. Purification of 5-aminolevulinate synthase from liver mitochondria of chick embryo. European Journal of Biochemistry. 129:1983;615-620.
4. Bottomley, S. S. (1999). Sideroblastic anemias. In G. R. Lee, et al. (Eds.), Wintrobe's clinical hematology (pp. 1022-1045). Baltimore, MD: Williams & Wilkins.
5. Bottomley S.S., May B.K., Cox T.C., Cotter P.D., Bishop D.F. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. Journal of Bioenergetics and Biomembranes. 27:1995;161-168.
6. Bottomley S.S., Wise P.D., Wasson E.G., Carpenter N.J. The spectrum of molecular defects in the erythroid 5-aminolevulinate synthase gene in hereditary sideroblastic anemia. Blood. 92(Suppl 1):1998;669a.
7. Bottomley S.S., Wise P.D., Whetsell L.H., Schaefer F.V. Human erythroid 5-aminolevulinate synthase has four transcripts due to alternative splicing. Blood. 84(Suppl 1):1994;361a.
8. Brooker J.D., Srivastava G., May B.K., Elliott W.H. Radiochemical assay for δ-aminolevulinate synthase. Enzyme. 28:1982;109-119.
9. Chomczynski P., Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Analytical Biochemistry. 162:1987;156-159.
10. Conboy J.G., Cox T.C., Bottomley S.S., Bawden M.J., May B.K. Human erythroid 5-aminolevulinate synthase: Gene structure and species-specific differences in alternative RNA splicing. Journal of Biological Chemistry. 267:1992;18753-18758.
11. Cox T.C., Bawden M.J., Abraham N.G., Bottomley S.S., May B.K., Baker E., Chen L.Z., Sutherland G.R. Erythroid 5-aminolevulinate synthase is located on the X chromosome. American Journal of Human Genetics. 46:1990;107-111.
12. Cox T.C., Bawden M.J., Martin A., May B.K. Human erythroid 5-aminolevulinate synthase: Promoter analysis and identification of an iron-responsive element in the mRNA. EMBO Journal. 10:1991;1891-1902.
13. Cox T.C., Bottomley S.S., Wiley J.S., Bawden M.J., Matthews C.S., May B.K. X-linked pyridoxine-responsive sideroblastic anemia due to a thr388-to-ser substitution in erythroid 5-aminolevulinate synthase. New England Journal of Medicine. 330:1994;675-679.
14. Dunn, B., & Wobbe, R. C. (1993). Introduction of DNA into yeast cells. In F. M. Ausubel, et al. (Eds.), Current protocols in molecular biology. New York: Wiley.
15. Dzikaite V., Kanopka A., Brock J.H., Kazlauskas A., Melefors Ö. A novel endoproteolytic processing activity in mitochondria of erythroid cells and the role in heme synthesis. Blood. 96(2):2000;740-746.
16. Ferreira G.C., Gong J. 5-Aminolevulinate synthase and the first step of heme biosynthesis. Journal of Bioenergetics and Biomembranes. 27(2):1995;151-159.
17. Furuyama K., Fujita H., Negai T., Yomogida K., Munakata H., Kondo M., Kimura A., Kuramoto N., Hayashi N., Yamamoto M. Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. Blood. 90(2):1997;822-830.
18. Furuyama K., Sassa S. Interaction between succinyl CoA synthase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. Journal of Clinical Investigations. 105:2000;757-764.
19. Goodfellow B.J., Dias J.S., Ferreira G.C., Henklein P., Wray V., Macedo A.L. The solution structure and heme binding of the presequence of murine 5-aminolevulinate synthase. FEBS Letters. 505:2001;325-331.
20. Goossens B., Kan Y.W. DNA analysis in the diagnosis of hemoglobin disorders. Methods in Enzymology. 76:1981;805-817.
21. Lathrop J.T., Timko M.P. Regulation by heme of mitochondrial protein transport through a conserved amino acid motif. Science. 259:1993;522-525.
22. Lubben T.H., Gatenby A.A., Donaldson G.K., Lorimer G.H., Viitanen P.V. Identification of a GroES-like chaperonin in mitochondria that facilitates protein folding. Proceedings of the National Academy of Sciences of the United States of America. 87:1990;7683-7687.
23. May B.K., Bhasker C.R., Bawden M.J., Cox T.C. Molecular regulation of 5-aminolevulinate synthase. Molecular Biology and Medicine. 7:1990;405-421.
24. May A., Bishop D.F. The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia. Haematologica. 83:1998;56-70.
25. May B.K., Dogra S.C., Sadlon T.J., Bhasker C.R., Cox T.C., Bottomley S.S. Molecular regulation of heme biosynthesis in higher vertebrates. Progress in Nucleic Acid Research & Molecular Biology. 51:1995;1-51.
26. Melefors Ö., Gossens B., Johanson H.E., Stripecke R., Gray N.K., Hentze M.W. Translational control of 5-aminolevulinate synthase mRNA by iron-responsive elements in erythroid cells. Journal of Biological Chemistry. 268:1993;5974-5978.
27. Munakata H., Yamagami T., Nagai T., Yamamoto M., Hayashi N. Purification and structure of rat erythroid-specific δ-aminolevulinate synthase. Journal of Biochemistry. 114:1993;103-111.
28. Nakajima O., Takahashi S., Harigae H., Furuyama K., Hayashi N., Sassa S., Yamamoto M. Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload. EMBO Journal. 18(22):1999;6282-6289.
29. Nobumoto M., Yamada M., Song S., Inouye S., Nakazawa A. Mechanism of mitochondrial import of adenylate kinase isozymes. Journal of Biochemistry. 123(1):1998;128-135.
30. Ponka P. Tissue-specific regulation of iron metabolism and heme synthesis: Distinct control mechanisms in erythroid cells. Blood. 89:1997;1-25.
31. Rhode M., Srivastava G., Rylatt D.B., Bundesen P., Zamattia J., Crane D.I., May B.K. Immunocytochemical studies on the localization of 5-aminolevulinate synthase in rat liver. Archives of Biochemistry and Biophysics. 280:1990;331-335.
32. Rospert S., Glick B.S., Jeno P., Schatz G., Todd M.J., Lorimer G.H., Viitanen P.V. Identification and functional analysis of chaperonin 10, the GroES homolog from yeast mitochondria. Proceedings of the National Academy of Sciences of the United States of America. 90:1993;10967-10971.
33. Sadlon T.J., Dell'Oso T., Surinya K.H., May B.K. Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis. International Journal of Biochemistry & Cell Biology. 31:1999;1153-1167.
34. Schoenhaut D.S., Curtis P.J. Nucleotide sequence of mouse 5-aminolevulinic acid synthase cDNA and expression of its gene in hepatic and erythroid tissues. Gene. 48:1986;55-56.
35. Schoenhaut D.S., Curtis P.J. Structure of a mouse erythroid 5-aminolevulinate synthase gene and mapping of erythroid-specific DNAse 1 hypersensitive sites. Nucleic Acids Research. 17:1989;7013-7028.
36. + exchanger interacts with mammalian heat shock protein. Biochemistry. 34:1995;10412-10420.
37. Smith S.J., Cox T.M. Translational control of erythroid δ-aminolevulainte synthase in immature human erythroid cells by heme. Cellular & Molecular Biology (Noisy le Grande). 43(1):1997;103-114.
38. Surinya K.H., Cox T.C., May B.K. Transcriptional regulation of the human erythroid 5-aminolevulinate synthase gene. Journal of Biological Chemistry. 272:1997;26585-26594.
39. Surinya K.H., Cox T.C., May B.K. Identification and characterization of a conserved erythroid-specific enhancer located in intron 8 of the human 5-aminolevulinate synthase-2 gene. Journal of Biological Chemistry. 273:1998;16798-16809.
40. Sutherland G., Baker E., Callen D.F., Hyland V.J., May B.K., Bawden M.J., Healy H.H., Borthwick I.A. 5-Aminolevulinate synthase is at 3p21 and thus is not the primary defect in X-linked sideroblastic anaemia. American Journal of Human Genetics. 43:1988;331-335.
41. Wu H., Rao G.N., Dai B., Singh P. Autocrine gastrins in colon cancer cells up-regulate cytochrome c oxidase Vb and down-regulate efflux of cytochrome c and activation of caspase-3. Journal of Biological Chemistry. 275(42):2000;32491-32498.