IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance

Pharmacogenomics Journal

Volumn 7, Issue 5, 2007, Pages 312-317

  Roberts, R L ^a   Gearry, R B ^b   Barclay, M L ^b   Kennedy, M A ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b CHRISTCHURCH HOSPITAL   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

AZATHIOPRINE; INOSINATE DEHYDROGENASE; INOSINATE DEHYDROGENASE 1; INOSINATE DEHYDROGENASE 2; LUCIFERASE; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYCLIC AMP RESPONSIVE ELEMENT; DNA SEQUENCE; ENTERITIS; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IN VITRO STUDY; IN VIVO STUDY; NONHUMAN; NUCLEOTIDE SEQUENCE; PHARMACOGENETICS; PRIORITY JOURNAL; PROMOTER REGION; REPORTER GENE; RISK FACTOR;

ANIMALS; AZATHIOPRINE; BASE SEQUENCE; CASE-CONTROL STUDIES; CERCOPITHECUS AETHIOPS; COHORT STUDIES; COS CELLS; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; GENE FREQUENCY; GENES, REPORTER; HUMANS; IMMUNOSUPPRESSIVE AGENTS; IMP DEHYDROGENASE; INFLAMMATORY BOWEL DISEASES; LUCIFERASES, FIREFLY; MOLECULAR SEQUENCE DATA; MUTATION; PROMOTER REGIONS (GENETICS); TRANSFECTION;

EID: 34748843964     PISSN: 1470269X     EISSN: 14731150     Source Type: Journal    
DOI: 10.1038/sj.tpj.6500421     Document Type: Article

References (32)

1. Louis E, Belaiche J. Optimizing treatment with thioguanine derivatives in inflammatory bowel disease. Best Pract Res Clin Gastroenterol 2003; 17: 37-46.
2. Hindorf U, Lyrenas E, Nilsson A, Schmiegelow K. Monitoring of longterm thiopurine therapy among adults with inflammatory bowel disease. Scand J Gastroenterol 2004; 39: 1105-1112.
3. Derijks LJ, Gilissen LP, Engels LG, Bos LP, Bus PJ, Lohman JJ et al. Pharmacokinetics of 6-mercaptopurine in patients with inflammatory bowel disease: Implications for therapy. Ther Drug Monit 2004; 26: 311-318.
4. Dubinsky MC, Yang H, Hassard PV, Seidman EG, Kam LY, Abreu MT et al. 6-MP metabolite profiles provide a biochemical explanation for 6-MP resistance in patients with inflammatory bowel disease. Gastroenterology 2002; 122: 904-915.
5. Bergan S, Rugstad HE, Bentdal O, Sodal G, Hartmann A, Leivestad T et al. Monitored high-dose azathioprine treatment reduces acute rejection episodes after renal transplantation. Transplantation 1998; 66: 334-339.
6. Cuffari C, Theoret Y, Latour S, Seidman G. 6-Mercaptopurine metabolism in Crohn's disease: Correlation with efficacy and toxicity. Gut 1996; 39: 401-406.
7. Dubinsky MC, Lamothe S, Yang HY, Targan SR, Sinnett D, Theoret Y et al. Pharmacogenomics and metabolite measurement for 6-mercaptopurine therapy in inflammatory bowel disease. Gastroenterology 2000; 118: 705-713.
8. Schwab M, Klotz U. Pharmacokinetic considerations in the treatment of inflammatory bowel disease. Clin Pharmacokinet 2001; 40: 723-751.
9. Gearry RB, Barclay ML, Roberts RL, Harraway J, Zhang M, Pike LS et al. Thiopurine methyltransferase and 6-thioguanine nucleotide measurement: Early experience of use in clinical practice. Intern Med J 2005; 35: 580-585.
10. Gearry RB, Barclay ML, Burt MJ, Collett JA, Chapman BA. Thiopurine drug adverse effects in a population of New Zealand patients with inflammatory bowel disease. Pharmacoepidemiol Drug Safety 2004; 13: 563-567.
11. Seidman EG. Clinical use and practical application of TPMT enzyme and 6-mercaptopurine metabolite monitoring in IBD. Rev Gastroenterol Disord 2003; 3(Suppl 1): S30-S38.
12. Schaeffeler E, Fischer C, Brockmeier D, Wernet D, Moerike K, Eichelbaum M et al. Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants. Pharmacogenetics 2004; 14: 407-417.
13. Gu JJ, Spychala J, Mitchell BS. Regulation of the human inosine monophosphate dehydrogenase type I gene. Utilization of alternative promoters. J Biol Chem 1997; 272: 4458-4466.
14. Natsumeda Y, Ohno S, Kawasaki H, Konno Y, Weber G, Suzuki K. Two distinct cDNAs for human IMP dehydrogenase. J Biol Chem 1990; 265: 5292-5295.
15. Senda M, Natsumeda Y. Tissue-differential expression of two distinct genes for human IMP dehydrogenase (E.C.1.1.1.205). Life Sci 1994; 54: 1917-1926.
16. Gu JJ, Stegmann S, Gathy K, Murray R, Laliberte J, Ayscue L et al. Inhibition of T lymphocyte activation in mice heterozygous for loss of the IMPDH II gene. J Clin Invest 2000; 106: 599-606.
17. Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ et al. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci 2006; 47: 34-42.
18. Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG et al. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet 2002; 11: 559-568.
19. Mayr B, Montminy M. Transcriptional regulation by the phosphorylation-dependent factor CREB. Nat Rev Mol Cell Biol 2001; 2: 599-609.
20. Zhang X, Odom DT, Koo SH, Conkright MD, Canettieri G, Best J et al. Genome-wide analysis of cAMP-response element binding protein occupancy, phosphorylation, and target gene activation in human tissues. Proc Natl Acad Sci USA 2005; 102: 4459-4464.
21. Zimmermann AG, Wright KL, Ting JP, Mitchell BS. Regulation of inosine-5′-monophosphate dehydrogenase type II gene expression in human T cells. Role for a novel 50 palindromic octamer sequence. J Biol Chem 1997; 272: 22913-22923.
22. Burt MJ, George PM, Upton JD, Collett JA, Frampton CM, Chapman TM et al. The significance of haemochromatosis gene mutations in the general population: Implications for screening. Gut 1998; 43 830-836.
23. Ciulla TA, Sklar RM, Hauser SL. A simple method for DNA purification from peripheral blood. Anal Biochem 1988; 174: 485-488.
24. Talmud P, Tybjaerg-Hansen A, Bhatnagar D, Mbewu A, Miller JP, Durrington P et al. Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia. Atherosclerosis 1991; 89: 137-141.
25. Cremonesi L, Stenirri S, Fermo I, Paroni R, Ferrari M, Cazzola M et al. Denaturing HPLC analysis of DNA deletions and insertions. Hum Mutat 2003; 22: 98-102.
26. Lennard L. The clinical pharmacology of 6-mercaptopurine. Eur J Clin Pharmacol 1992; 43: 329-339.
27. Lennard L, Lilleyman JS. Individualizing therapy with 6-mercaptopurine and 6-thioguanine related to the thiopurine methyltransferase genetic polymorphism. Ther Drug Monit 1996; 18: 328-334.
28. Zachara B, Lewandowski J. Isolation and identification of inosine triphosphate from human erythrocytes. Biochim Biophys Acta 1974; 353: 253-259.
29. Somerville L, Krynetski EY, Krynetskaia NF, Beger RD, Zhang W, Marhefka CA et al. Structure and dynamics of thioguanine-modified duplex DNA. J Biol Chem 2003; 278: 1005-1011.
30. Lepage GA. Basic biochemical effects and mechanism of action of 6-thioguanine. Cancer Res 1963; 23: 1202-1206.
31. Krynetskaia NF, Krynetski EY, Evans WE. Human RNase H-mediated RNA cleavage from DNA-RNA duplexes is inhibited by 6-deoxythioguanosine incorporation into DNA. Mol Pharmacol 1999; 56: 841-848.
32. Tiede I, Fritz G, Strand S, Poppe D, Dvorsky R, Strand D et al. CD28-dependent Rac1 activation is the molecular target of azathioprine in primary human CD4+ T lymphocytes. J Clin Invest 2003; 111 1133-1145.