Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene

British Journal of Haematology

Volumn 100, Issue 2, 1998, Pages 389-392

  Edgar, A J ^a   Wickramasinghe, S N ^a  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

EC.2.3.1.37; Mutation; Oxamine synthase; Pyridoxine; X linked sideroblastic anaemia

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; ASPARTIC ACID; DNA; FOLIC ACID; HISTIDINE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; RNA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA SEQUENCE; EXON; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SIDEROBLASTIC ANEMIA; X CHROMOSOMAL INHERITANCE;

5-AMINOLEVULINATE SYNTHETASE; AMINO ACID SEQUENCE; ANEMIA, SIDEROBLASTIC; EXONS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 0031936360     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.00569.x     Document Type: Article

References (17)

1. Aronson, B.D., Ravnikar, P.D. & Somerville. R.L. (1988) Nucleotide sequence of the 2-amino-3-ketobutyrate coenzyme A ligase (kbl) gene of E. coli. Nucleic Acids Research. 16. 3586.
2. Bottomley, S.S. (1993) Sideroblastic anemias. Wintwbe's Clinical Hematology, Vol. 1, 9th edn (ed. by G. R. Lee ft al), pp. 852-871. Lea and Febiger, Philadelphia.
3. Bottomley, S.S., May, B.K., Cox, T.C., Cotter, P.D. & Bishop, D.F. (1995) Molecular defects of erythroid 5-aminoIevulinate synthase in X-linked sideroblastic anemia. Journal of Bioenergetics and Biomembranes, 27, 161-168.
4. Bottomley, S.S., Wise, P.D., Wassson, E.G. & Carpenter, N.C. (1997) X-linked sideroblastic anemia: update of molecular defects and mechanism of the associated iron overload. Ada Uaematologica, 98, 103.
5. Buede, R., Rinker-Schaffer, C., Pinto, W.J., Lester, R.L. & Dickson, R.C. (1991) Cloning and characterization of LCB1, a Saccharomyces gene required for biosynthesis of the long-chain base component of sphingolipids. Journal of Bacteriology, 173, 4325-4332.
6. Cotter, P.D., May, A., Fitzsimons, E.J., Houston, T., tt'oodcock, B.E. & Al-Sabah, A.I. (1995) Late-onset X-linked sideroblastic anemia. Journal of Clinicallmestigation, 96, 2090-2096.
7. Cotter, P.D.. Willard, H.F., Gorski, J.L. & Bishop, D.F. (1992) Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xpl 1.21 by PCR analysis of somatic cell hybrids containing X: autosome translocations. Genomics, 13,211-212.
8. Cox, T.C., Bawden. M.J.. Martin. A. & May, B.K. (1991) Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA. EA1BO Journal 10. 1891-1902.
9. Edgar. A.J.. Losowsky, M.S., Noble. J.S. & Wickramasinghe, S.N. (1997) Identification of an arginine452 to histidine substitution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia. European Journal of Haematology, 58, 1-4.
10. Furuyama, K., Fujita, H., Nagai, T., Yomogida, K., Munakata. H., Kondo. M., Kimura, A., Kuramoto, A., Haj-ashi, N. & Yamamoto, M. (1997) Pyridoxine refractory X-Iinked sideroblastic anemia caused by a point mutation in the erythroid 3-amiolevuIinate synthase gene. Blood. 90, 822-830.
11. Horrigan, D.L. & Harris, J.W. (1964) Pyridoxine-responsive anemia: analysis of 62 cases. Advances in Internal Medicine, 12, 103-174.
12. May, A. & Fitzsimons, E. (1994) Sideroblastic anaemia. Baillière's Clinical Haematology, 7, 851-879.
13. Otsuka, A.J., Buoncristiani, M.R., Howard, P.K., Flamm, J Johnson, C., Yamamoto, R., Uchida, K., Cook, C., Ruppert, J. & Matsuzaki, J. (1988) The Escherichia coli biolin biosynthetic enzyme sequences predicted from the nucleotide sequence of the bio-operon. Journal of Biological Chemistry. 263, 19577-19585.
14. Prades, E., Chambon, C.. Dailey, T.A., Dailey, H.A., Briere. J. & Grandchamp, B. (1995) A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. Human Genetics, 95, 424-428.
15. Rost, B. & Sander, C. (1994) Combining evolutionary information and neural networks to predict protein secondary structure. Protons, 19, 55-72.
16. Tan, D. & Ferreira, G.C. (1996) Active site of 5-aminoIevulinate i synthase resides at the subunit interface: evidence from in vivo heterodimer formation. Biochemistry. 35, 8934-8941.
17. Zhao, C., Beeler, T. & Dunn, T. (1994) Suppressors of the Ca(2+)sensitive yeast mutant (csg2) identify genes involved in sphingolipid biosynthesis. Cloning and characterization of SCSI, a gene required for serine palmitoyltransferase activity. Journal of Biological Chemistry. 269, 21480-21488.