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

Volumn 58, Issue 1, 1997, Pages 1-4

  Edgar, A J ^a   Losowsky, M S ^b   Noble, J S ^b   Wickramasinghe, S N ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

ALAS2; hereditary sideroblastic anaemia; mutation

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; ARGININE; HISTIDINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PEDIGREE; PRIORITY JOURNAL; SIDEROBLASTIC ANEMIA; X CHROMOSOME; AMINO ACID SEQUENCE; FEMALE; GENETICS; MOLECULAR GENETICS; POINT MUTATION; SEQUENCE ANALYSIS;

5-AMINOLEVULINATE SYNTHETASE; AMINO ACID SEQUENCE; ANEMIA, SIDEROBLASTIC; ARGININE; FEMALE; HISTIDINE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; SEQUENCE ANALYSIS;

EID: 0030614907     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0609.1997.tb01402.x     Document Type: Article

References (23)

1. BOTTOMLEY SS. Sideroblastic anemias. In: LEE GR, BITHELL TC, FOERSTER J, ATHENS JW, LUKENS JN, eds. Wintrobe's clinical hematology, Vol 1, 9th edn. Philadelphia: Lea & Febiger, 1993: 852-871.
2. COTTER PD, MAY A, FITZSIMONS EJ, et al. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. J Clin Invest 1995: 96: 2090-2096.
3. COTTER PD, WILLARD HF, GORSKI JL, et al. Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations. Genomics 1992: 13: 211-212.
4. COTTER PD, BAUMANN M, BISHOP DF. Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc Natl Acad Sci USA 1992: 89: 4028-4032.
5. COTTER PD, RUCKNAGEL DL, BISHOP DF. 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 1994: 84: 3915-3924.
6. 388-to-Ser substitution in erythroid 5-aminolevulinate synthase. N Engl J Med 1994: 330: 675-679.
7. PRADES E, CHAMBON C, DAILEY TA, et al. A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. Hum Genet 1995: 95: 424-428.
8. LOSOWSKY MS, HALL R. Hereditary sideroblastic anaemia. Br J Haematol 1965: 11: 70-85.
9. HALL R, LOSOWSKY MS. The distribution of erythroblast iron in sideroblastic anaemias. Br J Haematol 1966: 12: 334-340.
10. WICKRAMASINGHE SN, FULKER MJ, LOSOWSKY MS, HALL R. Microspectrophotometric and electron microscopic studies of bone marrow in hereditary sideroblastic anaemia. Acta Haematol 1971: 45: 236-244.
11. NOBLE JS, TAYLOR GR, LOSOWSKY MS, et al. Linkage analysis of a large pedigree with hereditary sideroblastic anaemia. J Med Genet 1995: 32: 389-392.
12. WEIDNER J, EIGEL A, HORST J, et al. Nonisotopic detection of mutations using a modified single-strand conformation polymorphism analysis. Hum Mutat 1994: 4: 55-56.
13. HULTMAN T, STAHL S, HORNES E, et al. Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucleic Acids Res 1989: 17: 4937-4946.
14. Cox TC, BAWDEN MJ, MARTIN A, et al. Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA. EMBOJ 1991: 10: 1891-1902.
15. BISHOP DF. Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes. Nucleic Acids Res 1990: 18: 7187-7188.
16. SCHOENHAUT DS, CURTIS PJ. Nucleotide sequence of mouse 5-aminolevulinic acid synthase cDNA and expression of its gene in hepatic and erythroid tissues. Gene 1986: 48: 55-63.
17. MAGUIRE DJ, DAY AR, BORTHWICK IA, et al. Nucleotide sequence of the chicken 5-aminolevulinate synthase gene. Nucleic Acids Res 1986: 14: 1379-1391.
18. SRIVASTAVA G, BORTHWICK IA, MAGUIRE DJ, et al. Regulation of 5-aminolevulinate synthase mRNA in different rat tissues. J Biol Chem 1988: 263: 5202-5209.
19. YAMAMOTO M, KURE S, ENGEL JD, et al. Structure, turnover, and heme-mediated suppression of the level of mRNA encoding rat liver delta-aminolevulinate synthase. J Biol Chem 1988: 263: 15973-15979.
20. RIDDLE RD, YAMAMOTO M, ENGEL JD. Expression of delta-aminolevulinate synthase in avian cells: separate genes encode erythroid-specific and nonspecific isozymes. Proc Natl Acad Sci USA 1989: 86: 792-796.
21. ROST B, SANDER C. Improved prediction of protein secondary structure by use of sequence profiles and neural networks. Proc Natl Acad Sci USA 1993: 90: 7558-7562.
22. ROST B, SANDER C. Combining evolutionary information and neural networks to predict protein secondary structure. Proteins 1994: 19: 55-72.
23. FERREIRA GC, NEAME PJ, DAILEY HA. Heme biosynthesis in mammalian systems: evidence of a Schiff base linkage between the pyridoxal 5′-phosphate cofactor and a lysine residue in 5-aminolevulinate synthase. Protein Sci 1993: 2: 1959-1965.