Murine pharmacogenomics: Using the mouse to understand the genetics of drug therapy

Pharmacogenomics

Volumn 3, Issue 6, 2002, Pages 781-790

  Watters, James W ^a   McLeod, Howard L ^a  

^a Washington University in St Louis School of Medicine   (United States)

Author keywords

Genetics; Genomics; Mouse; Pharmacogenetics; Pharmacology

Indexed keywords

ABC TRANSPORTER; ALCOHOL; AZATHIOPRINE; BETA ADRENERGIC RECEPTOR; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; BLEOMYCIN; BLEOMYCIN HYDROLASE; CAFFEINE; CHLORAMPHENICOL; CYCLOPHOSPHAMIDE; CYTOCHROME P450; DIGOXIN; DRUG METABOLIZING ENZYME; FEXOFENADINE; FLUOROURACIL; GLUCURONOSYLTRANSFERASE; GLUTATHIONE TRANSFERASE; GLYCOPROTEIN P; INTERLEUKIN 4; MERCAPTOPURINE; METHYLTRANSFERASE; MORPHINE; PARACETAMOL; PHENOBARBITAL; PROTEINASE INHIBITOR; RNA; THIOPURINE METHYLTRANSFERASE; TIOGUANINE; TUMOR NECROSIS FACTOR ALPHA; UNINDEXED DRUG;

ALLELE; ASTHMA; BLADDER DISEASE; CLINICAL STUDY; DRUG ACTIVITY; DRUG BLOOD LEVEL; DRUG DISPOSITION; DRUG EFFECT; DRUG INACTIVATION; DRUG METABOLISM; DRUG RESPONSE; DRUG TARGETING; DRUG TRANSPORT; ECONOMIC ASPECT; EXPERIMENTAL MODEL; GENE FUNCTION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEMATOLOGIC DISEASE; INBRED STRAIN; INHERITANCE; LIVER DISEASE; LUNG DISEASE; LUNG FIBROSIS; MAJOR HISTOCOMPATIBILITY COMPLEX; MARKER GENE; MOUSE; NONHUMAN; PHARMACOGENOMICS; PHENOTYPE; PREDICTION; REVIEW; RNA TRANSLATION; SINGLE NUCLEOTIDE POLYMORPHISM; THEORY; TREATMENT OUTCOME;

ANIMALS; CHROMOSOME MAPPING; DRUG DELIVERY SYSTEMS; DRUG THERAPY; HUMANS; MICE; PHARMACOGENETICS;

MURINAE;

EID: 0036848029     PISSN: 14622416     EISSN: None     Source Type: Journal    
DOI: 10.1517/14622416.3.6.781     Document Type: Review

References (89)

1. Evans WE, Johnson JA: Pharmacogenomics: the inherited basis for interindividual differences in drug response. Ann. Rev. Genomics Hum. Genet. 2, 9-39 (2001).
2. Lazarou J, Pomeranz BH, Corey PN: Incidence of adverse drug reactions in hospitalized patients: a meta-analysis of prospective studies. JAMA 279, 1200-1205 (1998).
3. Phillips K, Veenstra D, Oren E, Lee J, Sadee W: Potential role of pharmacogenomics in reducing adverse drug reactions. JAMA 286, 2270-2279 (2001).
4. Nebert DW: Extreme discordant phenotype methodology: an intuitive approach to clinical pharmacogenetics. Eur. J. Pharmacol. 410, 107-120 (2000).
5. Schuetz EG, Schinkel AH: Drug disposition as determined by the interplay between drug-transporting and drug-metabolizing systems. J. Biochem. Mol. Toxicol. 13, 219-222 (1999).
6. Evans WE, Relling MV: Pharmacogenomics: translating functional genomics into rational therapeutics. Science 286, 487-491 (1999).
7. Nebert DW: Pharmacogenetics and pharmacogenomics: why is this relevant to the clinical geneticist? Clin. Genet. 56, 247-258 (1999).
8. Dresser MJ: The MDR1 C3435T polymorphism: effects on P-glycoprotein expression/function and clinical significance. AAPS PharmSci. 3,3 (2001).
9. Cascorbi I, Gerloff T, Johne A et al.: Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects. Clin. Pharmacol. Ther. 69, 169-174 (2001).
10. Hoffmeyer S, Burk O, Von Richter O et al.: Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc. Natl. Acad. Sci. USA 97, 3473-3478 (2000).
11. Kim RB, Leake BF, Choo EF et al.: Identification of functionally variant MDR1 alleles among European Americans and African Americans. Clin. Pharmacol. Ther. 70, 189-199 (2001).
12. Fellay J, Marzolini C, Meaden ER et al.: Response to antiretroviral treatment in HIV-1-infected individuals with allelic variants of the multidrug resistance transporter 1, a pharmacogenetics study. Lancet 359, 30-36 (2002).
13. Ingelman-Sundberg M: Genetic variability in susceptibility and response to toxicants. Toxicol. Lett. 120, 259-268 (2001).
14. McLeod HL, Evans WE: Pharmacogenomics: unlocking the human genome for better drug therapy. Ann. Rev. Pharmacol. Toxicol. 41, 101-121 (2001).
15. Krynetski EY, Evans WE: Pharmacogenetics of cancer therapy: getting personal. Am. J. Hum. Genet. 63, 11-16 (1998).
16. Weinshilboum RM, Sladek SL: Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am. J. Hum. Genet. 32, 651-662 (1980).
17. McLeod HL, Relling MV, Liu Q, Pui CH, Evans WE: Polymorphic thiopurine methyltransferase in erythrocytes is indicative of activity in leukemic blasts from children with acute lymphoblastic leukemia. Blood 85, 1897-1902 (1995).
18. Yates CR, Krynetski EY, Loennechen T et al.: Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann. Intern. Med 126, 608-614 (1997).
19. Hon YY, Fessing MY, Pui CH, Relling MV, Krynetski EY, Evans WE: Polymorphism of the thiopurine S-methyltransferase gene in African-Americans. Hum. Mol. Genet. 8, 371-376 (1999).
20. Otterness DM: Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity. J. Clin. Invest. 101, 1036-1044 (1998).
21. Lennard L, Van Loon JA, Weinshilboum RM: Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. Clin. Pharmacol. Ther. 46, 149-154 (1989).
22. Liggett SB: Beta(2)-adrenergic receptor pharmacogenetics. Am. J. Respir. Crit. Care Med. 161, S197-201 (2000).
23. Martinez FD, Graves PE, Baldini M, Solomon S, Erickson R: Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing. J. Clin. Invest. 100, 3184-3188 (1997).
24. Tan S, Hall IP, Dewar J, Dow E, Lipworth B: Association between beta 2-adrenoceptor polymorphism and susceptibility to bronchodilator desensitisation in moderately severe stable asthmatics. Lancet 350, 995-999 (1997).
25. Drysdale CM, McGraw DW, Stack CB et al.: Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc. Natl. Acad. Sci. USA 97, 10483-10488 (2000).
26. Lander ES: The new genomics: global views of biology. Science 274, 536-539 (1996).
27. Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science 273, 1516-1517(1996).
28. Ott J: Analysis of Human Genetic Linkage. The John Hopkins University Press, Baltimore, USA 280-291 (1999).
29. Kruglyak L: Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat. Genet. 22, 139-144 (1999).
30. Collins A, Lonjou C, Morton NE: Genetic epidemiology of single-nucleotide polymorphisms. Proc. Natl. Acad. Sci. USA 96, 15173-15177 (1999).
31. Ott J: Predicting the range of linkage disequilibrium. Proc. Natl. Acad. Sci. USA (2000) 97, 2-3.
32. McCarthy JJ, Hilfiker R: The use of single-nucleotide polymorphism maps in pharmacogenomics. Nat. Biotechnol. 18, 505-508 (2000).
33. Kwok P-Y: Methods for genotyping single nucleotide polymorphisms. Ann. Rev. Genomics Hum. Genet. 2, 235-258 (2001).
34. Silver LM: Mouse Genetics, Concepts and Applications. Oxford University Press, Oxford, UK (1995).
35. Beck JA, Lloyd S, Hafezparast M et al.: Genealogies of mouse inbred strains. Nat. Genet. 24, 23-25 (2000).
36. Manly KF, Olson JM: Overview of QTL mapping software and introduction to map manager QT. Mamm. Genome 10, 327-334 (1999).
37. Liu BH: Statistical Genomics: Linkage, Mapping and QTL Analysis, CRC Press (1998).
38. Bailey DW: Recombinant-inbred strains. An aid to finding identity, linkage, and function of histocompatibility and other genes. Transplantation 11, 325-327 (1971).
39. Roberts JE, Watters JW, Ballard JD, Dietrich WF: Ltx1, a mouse locus that influences the susceptibility of macrophages to cytolysis caused by intoxication with Bacillus anthracis lethal factor, maps to chromosome 11. Mol. Microbiol. 29, 581-591 (1998).
40. Darvasi A: Experimental strategies for the genetic dissection of complex traits in animal models. Nat. Genet. 18, 19-24 (1998).
41. Nadeau JH, Frankel WN: The roads from phenotypic variation to gene discovery: mutagenesis versus QTLs. Nat. Genet. 25, 381-384 (2000).
42. Haston Ck, Wang M, Dejournett RE et al.: Bleomycin hydrolase and a genetic locus within the MHC affect risk for pulmonary fibrosis in mice. Hum. Mol. Genet. 11, 1855-1863 (2002).
43. Ohtsuka Y, Brunson KJ, Jedlicka AE et al.: Genetic linkage analysis of susceptibility to particle exposure in mice. Am. J. Respir. Cell. Mol. Biol. 22, 574-581 (2000).
44. Piguet PF, Vesin C: Treatment by human recombinant soluble TNF receptor of pulmonary fibrosis induced by bleomycin or silica in mice. Eur. Respir. J. 7, 515-518 (1994).
45. Katsuma S, Nishi K, Tanigawara K et al.: Molecular monitoring of bleomycin-induced pulmonary fibrosis by cDNA microarray-based gene expression profiling. Biochem. Biophys. Res. Commun. 288, 747-751 (2001).
46. Watters JW, Dewar K, Lehoczky J, Boyartchuk V, Dietrich WF: Kif1C, a kinesin-like motor protein, mediates mouse macrophage resistance to anthrax lethal factor. Curr. Biol. 11, 1503-1511 (2001).
47. Vidal SM, Malo D, Vogan K, Skamene E, Gros P: Natural resistance to infection with intracellular parasites: isolation of a candidate for Bcg. Cell 73, 469-485 (1993).
48. Abel L, Sanchez FO, Oberti J et al.: Susceptibility to leprosy is linked to the human NRAMP1 gene. J. Infect. Dis. 177, 133-145 (1998).
49. Bellamy R, Ruwende C, Corrah T, McAdam KP, Whittle HC, Hill AV: Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans. N. Engl. J. Med. 338, 640-644 (1998).
50. Vasiliou V, Pappa A: Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease. Pharmacology 61, 192-198 (2000).
51. Bond SL, Wigle MR, Singh SM: Acetaldehyde dehydrogenase (Ahd-2)-associated DNA polymorphisms in mouse strains with variable ethanol preferences. Alcohol Clin. Exp. Res. 15, 304-307 (1991).
52. Roses AD: Pharmacogenetics and the practice of medicine. Nature 405, 857-865 (2000).
53. Lindblad-Toh K, Winchester E, Daly MJ et al.: Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nat. Genet. 24, 381-386 (2000).
54. Kimura S, Gonzalez FJ: Applications of genetically manipulated mice in pharmacogenetics and pharmacogenomics. Pharmacology 61, 147-153 (2000).
55. Deleve LD, Wang X, Kaplowitz N, Shulman HM, Bart JA, Van Der Hoek A: Sinusoidal endothelial cells as a target for acetaminophen toxicity. Direct action versus requirement for hepatocyte activation in different mouse strains. Biochem. Pharmacol. 53, 1339-1345 (1997).
56. Casley WL, Menzies JA, Mousseau N, Girard M, Moon TW, Whitehouse LW: Increased basal expression of hepatic CYP1A1 and CYP1A2 genes in inbred mice selected for susceptibility to acetaminophen-induced hepatotoxicity. Pharmacogenetics 7, 283-293 (1997).
57. Festing MF, Diamanti P, Turton JA: Strain differences in haematological response to chloramphenicol succinate in mice: implications for toxicological research. Food Chem. Toxicol. 39, 375-383 (2001).
58. Miller AM, Arimura GK, Gross MA, Yunis AA: In vitro evidence for genetically determined variations in marrow erythroid cell sensitivity to chloramphenicol. Exp. Hematol. 6, 455-460 (1978).
59. Fraiser L, Kehrer JP: Murine strain differences in metabolism and bladder toxicity of cyclophosphamide. Toxicology 75, 257-272 (1992).
60. Reimer DL, Singh SM: Cyclophosphamide induced in vivo sister chromatid exchanges (SCE) in Mus musculus. I: Strain differences and empirical association with relative chromosome size. Can. J. Genet. Cytol. (1982) 24, 521-528.
61. Reimer DL, Singh SM: Cyclophosphamide-induced in vivo sister chromatid exchanges (SCE) in Mus musculus. III. Quantitative genetic analysis. Genetics 105, 169-179 (1983).
62. Dragani TA, Zunino A, Sozzi G: Differences in sister chromatid exchange (SCE)-induction in vivo by cyclophosphamide in murine strains. Carcinogenesis 2, 219-222 (1981).
63. Sozzi G, Dragani TA, Presutti M, Della Porta G: Kinetics of sister-chromatid exchange induction by different carcinogens in C57BL/6J and DBA/2 mice. Mutat. Res. 156, 177-180 (1985).
64. Styles JA, Richardson CR, Burlinson B: A comparison of the incidence of micronuclei in blood and bone marrow in 3 strains of mouse dosed with cyclophosphamide or hexamethylphosphoramide (HMPA). Mutat. Res. (1983) 122, 143-147.
65. Kanekal S, Fraiser L, Kehrer JP: Pharmacokinetics, metabolic activation, and lung toxicity of cyclophosphamide in C57/B16 and ICR mice. Toxicol. Appl. Pharmacol. 114, 1-8 (1992).
66. Diwan BA, Rice JM, Ward JM: Strain-dependent effects of phenobarbital on liver tumor promotion in inbred mice. Prog. Clin. Biol. Res. 331, 69-83 (1990).
67. Casley WL, Menzies JA, Whitehouse LW, Moon TW: Detection of quantitative trait loci affecting caffeine metabolism by interval mapping in a genome-wide scan of C3H/HeJ xAPN F(2) mice. Drug Metab. Disp. 27, 1375-1380 (1999).
68. Casley WL, Menzies JA, Girard M et al.: Differences in caffeine 3-demethylation activity among inbred mouse strains: a comparison of hepatic CYP1A2 gene expression between two inbred strains. Fundam. Appl. Toxicol. 40, 228-237 (1997).
69. Seale TW, Johnson P, Carney JM, Rennert OM: Interstrain variation in acute toxic response to caffeine among inbred mice. Pharmacol. Biochem. Behav. 20, 567-573 (1984).
70. Sludden J, Hardy SC, Vandenbranden MR, Wrighton SA, McLeod HL: Liver dihydropyrimidine dehydrogenase activity in human, cynomolgus monkey, rhesus monkey, dog, rat and mouse. Pharmacology 56, 276-280 (1998).
71. Damon M, Fautrel A, Guillouzo A, Corcos L: Genetic analysis of the phenobarbital regulation of the cytochrome P450 2b-9 and aldehyde dehydrogenase Type 2 mRNAs in mouse liver. Biochem. J. 317, 481-486 (1996).
72. Corcos L: Phenobarbital and dexamethasone induce expression of cytochrome P450 genes from subfamilies IIB, IIC, and IIIA in mouse liver. Drug Metab. Disp. 20, 797-801 (1992).
73. Pevnitsky LA, Telegin L, Zhirnov GF, Mazurov AV, Viktorov VV: Sensitivity to immunodepressant action of cyclophosphamide: analysis of interstrain differences in mice. Int. J. Immunopharmacol. 7, 875-880 (1985).
74. Pukhalsky AL, Toptygina. AP, Viktorov VV: Pharmacokinetics of alkylating metabolites of cyclophosphamide in different strains of mice. Int. J. Immunopharmacol. 12, 217-223 (1990).
75. Pukhalsky AL, Toptygina AP, Viktorov VV: Immunosuppressive action of cyclophosphamide in mice: contribution of some factors to determination of strain differences. Int. J. Immunopharmacol. 15, 509-514 (1993).
76. Brase DA, Loh HH, Way EL: Comparison of the effects of morphine on locomotor activity, analgesia and primary and protracted physical dependence in six mouse strains. J. Pharmacol. Exp. Ther. 201, 368-374 (1977).
77. Belknap JK, Mogil JS, Helms ML et al.: Localization to chromosome 10 of a locus influencing morphine analgesia in crosses derived from C57BL/6 and DBA/2 strains. Life Sci. 57, L117-124 (1995).
78. Berrettini WH, Alexander R, Ferraro TN, Vogel WH: A study of oral morphine preference in inbred mouse strains. Psychiatr. Genet. 4, 81-86 (1994).
79. Berrettini WH, Ferraro TN, Alexander RC, Buchberg AM, Vogel WH: Quantitative trait loci mapping of three loci controlling morphine preference using inbred mouse strains. Nat. Genet. 7, 54-58 (1994).
80. Alexander RC, Heydt D, Ferraro TN, Vogel W, Berrettini WH: Further evidence for a quantitative trait locus on murine chromosome 10 controlling morphine preference in inbred mice. Psychiatr. Genet. 6, 29-31 (1996).
81. Bergeson SE, Helms ML, O'toole LA et al.: Quantitative trait loci influencing morphine antinociception in four mapping populations. Mamm. Genome 12, 546-553 (2001).
82. Crabbe JC: Sensitivity to ethanol in inbred mice: genotypic correlations among several behavioral responses. Behav. Neurosci. 97, 280-289 (1983).
83. Crabbe JC, Gallaher ES, Phillips TJ, Belknap JK: Genetic determinants of sensitivity to ethanol in inbred mice. Behav. Neurosci. 108, 186-195 (1994).
84. Buck KJ, Metten P, Belknap JK, Crabbe JC: Quantitative trait loci involved in genetic predisposition to acute alcohol withdrawal in mice. J. Neurosci. 17, 3946-3955 (1997).
85. Flores CM, Wilson SG, Mogil JS: Pharmacogenetic variability in neuronal nicotinic receptor-mediated antinociception. Pharmacogenetics 9, 619-625 (1999).
86. 2O) antinociception. Brain Res. 614, 52-56 (1993).
87. Shuster L, Yu G, Bates A: Sensitization to cocaine stimulation in mice. Psychopharmacology 52, 185-190 (1977).
88. Tolliver BK, Belknap JK, Woods WE, Carney JM: Genetic analysis of sensitization and tolerance to cocaine. J. Pharmacol. Exp. Ther. 270, 1230-1238 (1994).
89. Tritto T, Stitzel JA, Marks MJ, Romm E, Collins A: Variability in response to nicotine in the LSxSS RI strains: potential role of polymorphisms in the α4 and α6 nicotinic receptor genes. Pharmacogenetics 12, 197-208 (2002).