Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO)

American Journal of Human Genetics

Volumn 64, Issue 5, 1999, Pages 1316-1322

  Beltran Valero De Bernabe D ^a   Jimenez, F J ^a   Aquaron, R ^b   Rodriguez De Cordoba S ^a  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^b TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DINUCLEOTIDE; DNA; HOMOGENTISIC ACID; NUCLEOTIDE; OXYGENASE;

ALKAPTONURIA; ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; GENE; GENE MUTATION; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

CYANEA ANGUSTIFOLIA; KATSUWONUS PELAMIS;

EID: 0347559391     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302376     Document Type: Article

References (18)

1. Beltrán-Valero de Bernabé D, Granadino B, Chiarelli I, Porfirio B, Mayatepek E, Aquaron R, Moore MM, et al (1998) Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet 62:776-784
2. Burns PA, Gordon AJ, Kunsmann K, Glickman BW (1988) Influence of neighboring base sequence on the distribution and repair of N-ethyl-N-nitrosourea-induced lesions in Escherichia coli. Cancer Res 48(16): 4455-4458
3. Cooper DN, Krawczak M (1990) The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet 85:55-74
4. Cooper DN, Krawczak M, Antonarakis SE (1995) The nature and mechanisms of human gene mutation. In: Scriver CR, Beaudet AL, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 259-290
5. Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA, Rodríguez de Córdoba S (1996) The molecular basis of alkaptonuria. Nat Genet 14:19-24
6. Fleiss J (1981) Statistical methods for rates and proportions. 2d ed. Wiley-Interscience, New York
7. Garrod AE (1902) The incidence of alkaptonuria: a study in clinical individuality. Lancet 2:1616-1620
8. Garrod AE (1908) The Croonian lectures on inborn errors of metabolism, lecture II: alkaptonuria. Lancet 2:73-79
9. Gehrig A, Schmidt SR, Muller CR, Srsen S, Srsnova K, Kress W (1997) Molecular defects in alkaptonuria. Cytogenet Cell Genet 76:14-16
10. Granadino B, Beltrán-Valero de Bernabé D, Fernández-Cañón JM, Peñalva MA, Rodríguez de Córdoba S (1997) The human homogentisate 1,2-dioxygenase (HGO) gene. Genomics 43:115-122
11. Green NS, Lin MM, Scharff MD (1998) Somatic hypermutation of antibody genes: a hot spot warms up. Bioessays 20(3):227-234
12. Higashino K, Liu W, Ohkawa T, Yamamoto T, Fukui K, Ohno M, Imanishi H, et al (1998) A novel point mutation associated with alkaptonuria. Clin Genet 53:228-229
13. Knox WE, Edwards SW (1955) Homogentisate oxidase of liver. J Biol Chem 216:479-487
14. La Du BN (1995) Alkaptonuria. In: Scriver CR, Beaudet AL, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1371-1386
15. La Du BN, Zannoni VG, Laster L, Seegmiller JE (1958) The nature of the defect in tyrosine metabolism in alkaptonuria. J Biol Chem 230:251-260
16. Reitsma PH, Poort SR, Bernardi F, Gandrille S, Long GL, Sala N, Cooper DN, for the Protein C and S Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis (1993) Protein C deficiency: a database of mutations. Thromb Haemost 69:77-84
17. Smith DS, Creadon G, Jena PK, Portanova JP, Kotzin BL, Wysocki LJ (1996) Di- and trinucleotide target preferences of somatic mutagenesis in normal and autoreactive B cells. J Immunol 156(7):2642-2652
18. Youssoufian H, Kazazian HH Jr, Phillips DG, Aronis S, Tsiftis G, Brown VA, Antonarakis SE (1986) Recurrent mutations in haemophilia A give evidence for CpG mutation hot spots. Nature 324:380-382