Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis

Human Genetics

Volumn 98, Issue 1, 1996, Pages 48-50

  Kostrzewa, Markus ^a   Damian, Maxwell S ^a   Müller, Ulrich ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; SUPEROXIDE DISMUTASE; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; DIMERIZATION; ENZYME STRUCTURE; FEMALE; HUMAN; HUMAN CELL; POINT MUTATION; PRIORITY JOURNAL; STRUCTURE ACTIVITY RELATION;

AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; CLONING, MOLECULAR; CONSERVED SEQUENCE; DNA PRIMERS; FEMALE; HUMANS; LIPID PEROXIDATION; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; SUPEROXIDE DISMUTASE;

EID: 0029977273     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050157     Document Type: Article

References (17)

1. Belleroche J, Orell R, King A (1995) Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments. J Med Genet 32: 841-847
2. Bermingham-McDonogh O, Gralla EB, Valentine JS (1988) The copper, zinc-superoxide dismutase gene of Saccharomyces cerevisiae: cloning, sequencing, and biological activity. Proc Natl Acad Sci USA 85: 4789-4793
3. Borchelt DL, Guarnieri M, Wong PC, Lee MK, Slunt HS, Xu ZS, Sisodia SS, Price DL, Cleveland DW (1995) Superoxide dismutase 1 subunits with mutations linked to familial amyotrophic lateral sclerosis do not affect wild-type subunit function. J Biol Chem 270: 3234-3238
4. Chary P, Hallewell RA, Natvig DO (1990) Structure, exon pattern, and chromosome mapping of the gene for cytosolic copper-zinc superoxide dismutase (sod-1) from Neurospora crassa. J Biol Chem 265: 18961-18967
5. Deng H-X, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung W-Y, Getzoff ED, Hu P, Herzfeldt B, Roos RP, Warner C, Deng G, Soriano E, Smyth C, Parge HE, Ahmed A, Roses AD, Hallewell RA, Pericak-Vance MA, Siddique T (1993) Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science 261: 1047-1051
6. Deng H-X, Tainer JA, Mitsumoto H, Ohnishi A, He X, Hung W-Y, Zhao Y, Juneja T, Hentati A, Siddique T (1995) Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet 4: 1113-1116
7. Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD, Caliendo J, Hentati A, Kwon YW, Deng H-X, Chen W, Zhai P, Sufit RL, Siddique T (1994) Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation. Science 264: 1772-1775
8. Hjalmarsson K, Marklund SL, Engström A, Edlund T (1987) Isolation and sequence of complementary DNA encoding human extracellular superoxide dismutase. Proc Natl Acad Sci USA 84: 6340-6344
9. Kostrzewa M, Burck-Lehmann U, Müller U (1994) Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in Cu/Zn superoxide dismutase-1 gene. Hum Mol Genet 3: 2261-2262
10. Lee YM, Friedman DJ, Ayala FJ (1985) Superoxide dismutase: an evolutionary puzzle. Proc Natl Acad Sci USA 82: 824-828
11. Levanon D, Lieman-Hurwitz J, Dafni N, Wigderson M, Sherman L, Bernstein Y, Laver-Rudich Z, Danciger E, Stein O, Groner Y (1985) Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase. EMBO J 4: 77-84
12. Pramatarova A, Figlewicz DA, Krizus A, Han FY, Ceballos-Picot I, Nicole A, Dib M, Meininger V, Brown RH, Rouleau GA (1995) Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet 56: 592-596
13. Rocha HA, Bannister WH, Bannister JV (1984) The amino-acid sequence of copper/zinc superoxide dismutase from swordfish liver. Eur J Biochem 145: 477-484
14. Roos RR, Siddique T, Tainer JA (1995) Summary of conference on superoxide dismutase (SOD) and free radicals in amyotrophic lateral sclerosis and neurodegeneration. Neurology 45: 1779-1780
15. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng H-X, Rahmani Z, Krizus A, McKenna-Yasek D, Cayabyab A, Gaston SM, Berger R, Tanzi RE, Halperin JJ, Herzfeldt B, Bergh R Van den, Hung W-Y, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA, Haines J, Rouleau GA, Gusella JS, Horvitz HR, Brown RH (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59-62
16. Sakamoto A, Ohsuga H, Tanaka K (1992) Nucleotide sequences of two cDNA clones encoding different Cu/Zn-superoxide dismutases expressed in developing rice seed (Oryza sativa L.). Plant Mol Biol 19: 323-327
17. Wiedau-Pazos M, Goto JJ, Rabizadeh S, Gralla EB, Roe JA, Lee MK, Valentine JS, Bredesen DE (1996) Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis. Science 271: 515-518