Thiopurine S-methyltransferase deficiency: Two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians

American Journal of Human Genetics

Volumn 58, Issue 4, 1996, Pages 694-702

  Tai, Hung Liang ^b   Krynetski, Eugene Y ^b   Yates, Charles R ^b   Loennechen, Thrina ^b   Fessing, Michael Y ^b   Krynetskaia, Natalia F ^b   Evans, William E ^a  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AZATHIOPRINE; COMPLEMENTARY DNA; MERCAPTOPURINE; RNA; THIOPURINE METHYLTRANSFERASE; TIOGUANINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CAUCASIAN; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME KINETICS; ENZYME STABILITY; GENE FREQUENCY; GENETIC POLYMORPHISM; HUMAN; MALE; METHYLATION; NONHUMAN; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

6-MERCAPTOPURINE; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; CLONING, MOLECULAR; DNA, COMPLEMENTARY; DNA, NEOPLASM; ENZYME STABILITY; ERYTHROCYTES; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; HUMANS; KINETICS; LEUKEMIA, LYMPHOCYTIC, ACUTE; MALE; METHYLATION; METHYLTRANSFERASES; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECOMBINANT PROTEINS; RNA, MESSENGER; S-ADENOSYLMETHIONINE; YEASTS;

EID: 0029919807     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Becker DM, Lundblad V (1993) Saccharomyces cerevisiae. In: Ausbel FM, Brent R, Kingston RE, Moore DD, Seideman JG, Smith JA, Struhl K (eds) Current protocols in molecular biology. Vol. 2. Greene and Wiley-Interscience, New York, pp 13.7.1-13.7.10
2. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phol-chloroform extraction. Anal Biochem 162:156-159
3. Ciechanover A, Schwartz AL (1994) The ubiquitin-mediated proteolytic pathway: mechanisms of recognition of the proteolytic substrate and involvement in the degradation of native cellular proteins. FASEB J 8:182-191
4. Cullin C, Pompon D (1988) Synthesis of functional mouse cytochromes P-450 P1 and chimeric P-450 P3-1 in the yeast Saccharomyces cerevisiae. Gene 65:203-217
5. Dupret JM, Goodfellow GH, Janezic SA, Grant DM (1994) Structure-function studies of human arylamine N-acetyl-transferases NAT1 and NAT2. J Biol Chem 269:26830-26835
6. McLeod HL, Krynetski EY, Wilimas JA, Evans WE (1995a) Higher activity of polymorphic thiopurine methyltransferase in erythrocytes from neonates compared to adults. Pharmacogenetics 5:281-286
7. McLeod HL, Lin J-S, Pui C-H, Scott EP, Evans WE (1994) Thiopurine methyltransferase activity in American white subjects and black subjects. Clin Pharmacol Ther 55:15-20
8. Heim M, Meyer UA (1990) Genotyping of poor metabolisers of debrisoquine by allele-specific PCR amplification. Lancet 336:529-532
9. Hollander AAM, van Saase JLCM, Kootte AMM, van Dorp WT, van Bockel HJ, van Es LA, van der Woude FJ (1995) Beneficial effects of conversion from cyclosporin to azathioprine after kidney transplantation. Lancet 345:610-614
10. Woodson LC, Dunnette J, Weinshilboum RM (1982) Pharmacogenetics of human thiopurine methyltransferase: kidneyerythrocyte correlation and immunotitration studies. J Pharmacol Exp Ther 222:174-181