A novel mutation found in the 3′ domain of NADH-cytochrome B5 reductase in an African-American family with type I congenital methemoglobinemia

Blood

Volumn 87, Issue 7, 1996, Pages 2993-2999

  Jenkins, Mary M ^b   Prchal, Josef T ^a  

^a University of Alabama at Birmingham   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME B5 REDUCTASE;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; ENZYME STABILITY; EXON; GENE MUTATION; HUMAN; HUMAN CELL; METHEMOGLOBINEMIA; NEGRO; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SYNTHESIS; STRUCTURE ACTIVITY RELATION;

ADOLESCENT; AFRICAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CLONING, MOLECULAR; CYTOCHROME REDUCTASES; CYTOCHROME-B(5) REDUCTASE; FEMALE; HUMANS; MALE; METHEMOGLOBINEMIA; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; SEQUENCE ANALYSIS;

EID: 0029881835     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v87.7.2993.bloodjournal8772993     Document Type: Article

References (37)

1. McKusick VA: Mendelian Inheritance in Man: Catalogs of Autosomal Dominant. Autosomal Recessive, and X-Linked Phenotypes (ed 12). Baltimore, MD, The Johns Hopkins Press, 1994
2. + reductase: Prototype for a structurally novel flavoenzyme family. Science 251:60, 1991
3. 5 reductase system. J Biol Chem 240:4481, 1965
4. 5 reductase. Biochemistry 23:1418, 1984
5. 5 reductase gene. Gene 80:353, 1989
6. 5 reductase (DIA1). Ann Hum Genet 52:263, 1988
7. Scott EM, Griffith IV: The enzyme defect of hereditary methemoglobinemia: Diaphorase. Biochim Biophys Acta 34:584, 1959
8. 5 reductase purified from human erythrocytes. J Biochem (Tokyo) 99:407, 1986
9. 5 reductase from human erythrocytes. Biochim Biophys Acta 275:62, 1972
10. 5: Structure, role in methemoglobin reduction, and solubilization from endoplasmic reticulum. Prog Clin Biol Res 21:199, 1978
11. 5 reductase. Nature 229:252, 1971
12. 5 reductase in congenital methaemoglobinaemia with mental retardation. Nature 258:619, 1975
13. 5 reductase in rat liver cells, studied with a quantitative radioimmunoblotting assay. Biochem J 239:393, 1986
14. 5 reductase by HPLC mapping. J Biochem 101:1147, 1987
15. 5 reductase. J Biol Chem 20:11953, 1985
16. 5 reductase as myristic acid and the complete amino acid sequence of the membrane-binding domain. J Biol Chem 259:13349, 1984
17. 5 reductase, in Stanburg JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds): The Metabolic Basis of Inherited Disease (ed 5). New York, NY, McGraw-Hill, 1983, p 1654
18. Prchal JT, Borgese N, Moore MR, Moreno H, Hegesh E, Hall MK: Congenital methemoglobinemia due to methemoglobin reductase deficiency in two unrelated American black families. Am J Med 89:516, 1990
19. Evelyn KA, Malloy HT: Microdetermination of oxyhemoglobin, methemoglobin, and sulfhemoglobin in a single sample of blood. J Biol Chem 126:655, 1938
20. Board PG: NADH-ferricyanide reductase, a convenient approach to the evaluation of NADH-methemoglobin reductase in human erythrocytes. Clin Chim Acta 109:233, 1981
21. Beutler E: Red Cell Metabolism: A Manual of Biochemical Methods (ed 2). New York, NY, Grune & Stratton, 1975
22. Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156, 1987
23. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning, A Laboratory Manual (ed 2). Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1989, p 7.43
24. 5 reductase. Proc Natl Acad Sci USA 84:3609, 1987
25. Gunning P, Ponte P, Okayama H, Engel J, Blau H, Kedes L: Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: Skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed. Mol Cell Biol 3:787, 1983
26. Rigby PWJ, Dieckmann M, Rhodes C, Berg P: Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol 113:237, 1977
27. Wu DY, Ugozzoli L, Pal BK, Wallace RB: Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia. Proc Natl Acad Sci USA 86:2757, 1989
28. Liu Y, Luhovy M, Prchal JT: A simple genotype screening assay for X chromosome transcriptional polymorphisms: allele specific PCR (ASPCR). Blood 84:38a, 1994 (abstr, suppl 1)
29. 5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: Putative mechanisms of tissue-dependent enzyme deficiency. Am J Hum Genet 48:799, 1991
30. 5 reductase: Apparent "type III" methemoglobinemia can be explained as type I with an unstable reductase. Blood 81:808, 1993
31. 5 reductase in erythrocytes of normal and methemoglobinemic individuals measured with a quantitative radioimmunoblotting assay. J Clin Invest 80:1296, 1987
32. 5 reductase as a cause of hereditary methemoglobinemia type I (red cell type). J Biol Chem 267:20416, 1992
33. 5 reductase gene from patients with recessive congenital methemoglobinemia type II. Blood 85:2254, 1995
34. Pietrini G, Carrera P, Borgese N: Two transcripts encode rat cytochrome b5 reductase. Proc Natl Acad Sci USA 85:7246, 1988
35. Chou PY, Fasman GD: Empirical predictions of protein conformation. Annu Rev Biochem 47:251, 1978
36. Petersen RB, Goldfarb LG, Tabaton M, Brown P, Monari L, Cortelli P, Montagna P, Autilio-Gambetti L, Gajdusek DC, Lugaresi E, Gambetti P: A novel mechanism of phenotypic heterogeneity demonstrated by the effect of a polymorphism on a pathogenic mutation in the PRNP (prion protein gene). Mol Neurobiol 8:99, 1994
37. Danpure CJ, Jennings PR, Fryer P, Purdue PE, Allsop J: Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity. J Inherit Metab Dis 17:487, 1994