Resequencing the sulfotransferase SULT1 gene provides new insights, while illuminating challenges that lie ahead for pharmacogenomics

Pharmacogenetics

Volumn 11, Issue 9, 2001, Pages 745-746

  Evans, W E ^a   Ingelman Sundberg, M ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 ADRENERGIC RECEPTOR STIMULATING AGENT; CYTOCHROME P450; CYTOCHROME P450 2A5; CYTOCHROME P450 2D6; CYTOCHROME P450 3A5; DNA; GENE PRODUCT; PROTEIN SULT1; SULFOTRANSFERASE; THIOPURINE METHYLTRANSFERASE; UNCLASSIFIED DRUG;

ALLELE; GENE SEQUENCE; HAPLOTYPE; HUMAN; MOLECULAR CLONING; NONHUMAN; PHARMACOGENOMICS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STABILITY; SHORT SURVEY; SINGLE NUCLEOTIDE POLYMORPHISM;

EXONS; HAPLOTYPES; HUMANS; INTRONS; PHARMACOGENETICS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SULFOTRANSFERASES;

EID: 0035216185     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008571-200112000-00001     Document Type: Short Survey

References (20)

1. Human sulfotransferase SULT1C1 pharmacogenetics: Gene resequencing and functional genomic studies
2. Sequence diversity in CYP3A promoters and characterization of the genetic basis for polymorphic CYP3A5 expression
3. Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT* 3A, TPMT* 2): Mechanisms for the genetic polymorphism of TPMT activity
4. Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: Mechanism for TPMT protein deficiency inherited by TPMT* 2, TPMT* 3A, TPMT* 3B or TPMT* 3C
5. Human histamine N-methyltransferase pharmacogenetics: Common genetic polymorphisms that alter activity
6. Genetic analysis of the Chinese cytochrome P4502D locus: Characterization of variant CYP2D6 genes present in subjects with diminished capacity for debrisoquine hydroxylation
7. Isolation of a human thiopurine S-methyltransferase (TPMT) cDNA with a single nucleotide transition A719G (TPMT* 3C) and its association with loss of TPMT protein and catalytic activity in humans
8. Thiopurine S-methyltransferase deficiency: Two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians
9. Characterization of the CYP206* 29 allele commonly present in a black Tanzanian population causing reduced catalytic activity
10. Identification and characterisation of novel polymorphisms in the CYP2A locus: Implications for nicotine metabolism
11. Haplotype variation and linkage disequilibrium in 313 human genes
12. Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness
13. Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies
14. Sequence variability and candidate gene analysis in complex disease: Association of μ opioid receptor gene variation with substance dependence
15. Variation in the interleukin 4-receptor α gene confers susceptibility to asthma and atopy in ethnically diverse populations
16. Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies
17. A combination of mutations in the CYP2D6* 17 (CYP2D6Z) allele causes alterations in enzyme function
18. Molecular haplotyping of genetic markers 10 kb apart by allele-specific long-range PCR
19. Monoallelic mutation analysis (MAMA) for identifying germline mutations
20. Direct haplotyping of kilobase-size DNA using carbon nanotube probes