Human phenylethanolamine N-methyltransferase pharmacogenomics: Gene re-sequencing and functional genomics

Journal of Neurochemistry

Volumn 95, Issue 6, 2005, Pages 1766-1776

  Ji, Yuan ^a   Salavaggione, Oreste E ^a   Wang, Liewei ^a   Adjei, Araba A ^a   Eckloff, Bruce ^a   Wieben, Eric D ^a   Weinshilboum, Richard M ^a  

^a MAYO GRADUATE SCHOOL   (United States)

Author keywords

Allozymes; Functional genomics; Gene resequencing; Haplotypes; Non synonymous coding single nucleotide polymorphisms; Pharmacogenomics; Phenylethanolamine N methyltransferase; Polymorphisms; Single nucleotide polymorphism

Indexed keywords

ADRENALIN; ALANINE; ARGININE; ASPARAGINE; CELL PROTEIN; CYSTEINE; DNA; NORADRENALIN; PHENYLETHANOLAMINE N METHYLTRANSFERASE; SERINE; THREONINE;

AFRICAN AMERICAN; AMINO ACID SEQUENCE; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DNA FLANKING REGION; ENZYME ANALYSIS; EXON; FUNCTIONAL GENOMICS; GENE; GENE CONSTRUCT; GENE SEQUENCE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; METHYLATION; NUCLEOTIDE SEQUENCE; PHARMACOGENOMICS; PNMT GENE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; RACE DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE;

AFRICAN CONTINENTAL ANCESTRY GROUP; ANIMALS; BLOTTING, WESTERN; DNA; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; GENES, REPORTER; GENOMICS; GENOTYPE; HAPLOTYPES; HUMANS; INTRONS; KINETICS; LINKAGE DISEQUILIBRIUM; LUCIFERASES; PHENOTYPE; PHENYLETHANOLAMINE N-METHYLTRANSFERASE; POLYMORPHISM, SINGLE NUCLEOTIDE; RABBITS; RETICULOCYTES; SEQUENCE ANALYSIS, PROTEIN;

EID: 29144481765     PISSN: 00223042     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1471-4159.2005.03453.x     Document Type: Article

References (32)

1. Axelrod J. (1962) Purification and properties of phenylethanolamine-N- methyl transferase. J. Biol. Chem. 237, 1657-1660.
2. Baima J., Nicolaou M., Schwartz F. et al. (1999) Evidence for linkage between essential hypertension and a putative locus on human chromosome 17. Hypertension 34, 4-7.
3. Baruchin A., Vollmer R. R., Miner L. L., Sell S. L., Stricker E. M. and Kaplan B. B. (1993) Cold-induced increases in phenylethanolamine N-methyltransferase (PNMT) mRNA are mediated by non-cholinergic mechanisms in the rat adrenal gland. Neurochem. Res. 18, 759-766.
4. Brodde O. E. and Leineweber K. (2005) Beta2-adrenoceptor gene polymorphisms. Pharmacogenet. Genomics 15, 267-275.
5. Bulbring E. and Burn J. H. (1949) Liberation of nor-adrenaline from adrenal medulla by splanchnic stimulation. J. Physiol. 109, 11.
6. Chadwick R. B., Conrad M. P., McGinnis M. D., Johnston-Dow L., Spurgeon S. L. and Kronick M. N. (1996) Heterozygote and mutation detection by direct automated fluorescent DNA sequencing using a mutant Taq DNA polymerase. Biotechniques 20, 676-683.
7. Cleland W. W. (1963) Computer programmes for processing enzyme kinetic data. Nature 198, 463-465.
8. Cui J., Zhou X., Chazaro I., DeStefano A. L., Manolis A. J., Baldwin C. T. and Gavras H. (2003) Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites. Am. J. Hypertens. 16, 859-863.
9. Ebert S. N., Bait S. L., Hunter J. P., Cashier A., Sukhatme V. and Wong D. L. (1994) Egr-1 activation of rat adrenal phenylethanolamine N-methyltransferase gene. J. Biol. Chem. 269, 20885-20898.
10. Fuller R. W. (1982) Pharmacology of brain epinephrine neurons. Annu. Rev. Pharmacol. Toxicol. 22, 31-55.
11. Gordon D., Abajian C. and Green P. (1998) Consed: a graphical tool for sequence finishing. Genome Res. 8, 195-202.
12. Hartl D. L. and Clark A. G. (2000) Organization of genetic variation, in Principles of Population Genetics, 3rd edn, pp. 95-107. Sinauer Associates, Sunderland, MA.
13. Hemmick L. M., Ross M. E. and Evinger M. J. (1995) Regulation of PNMT gene promoter constructs transfected into the TE 671 human medulloblastoma cell line. Neurosci. Lett. 201, 77-80.
14. Hendrick P. W. (2000) Genetics of Populations, 2nd edn, pp. 396-405. Jones and Bartlett, Sudbury, MA.
15. Hokfelt T., Fuxe K., Goldstein M. and Johansson O. (1973) Evidence for adrenaline neurons in the rat brain. Acta Physiol. Scand. 89, 286-288.
16. Mann M. B., Wu S., Rostamkhani M., Tourtellotte W., MacMurray J. and Comings D. E. (2001) Phenylethanolamine N-methyltransferase (PNMT) gene and early-onset Alzheimer disease. Am. J. Med. Genet. 105, 312-316.
17. Mann M. B., Wu S., Rostamkhani M., Tourtellotte W., MacMurray J. P. and Comings D. E. (2002) Association between the phenylethanolamine N-methyltransferase gene and multiple sclerosis. J. Neuroimmunol. 124, 101-105.
18. Molinoff P. B., Weinshilboum R. and Axelrod J. (1971) A sensitive enzymatic assay for dopamine-beta-hydroxylase. J. Pharmacol. Exp. Ther. 178, 425-431.
19. Nickerson D. A., Tobe V. O. and Taylor S. L. (1997) PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res. 25, 2745-2751.
20. Peters W. R., MacMurry J. P., Walker J., Giese R. J., Jr and Comings D. E. (2003) Phenylethanolamine N-methyltransferase G-148A genetic variant and weight loss in obese women. Obesity Res. 11, 415-419.
21. Saavedra J. M., Palkovits M., Brownstein M. J. and Axelrod J. (1974) Localisation of phenylethanolamine N-methyl transferase in the rat brain nuclei. Nature 248, 695-696.
22. Schaid D. J., Rowland C. M., Tines D. E., Jacobson R. M. and Poland G. A. (2002) Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am. J. Hum. Genet. 70, 425-434.
23. Siegel D., Anwar A., Winski S. L., Kepa J. K., Zolman K. L. and Ross D. (2001) Rapid polyubiquitination and proteosomal degradation of a mutant form of NAD(P)H: quinone oxioreductase 1. Mol. Pharmacol. 59, 263-268.
24. Tai H.-L., Fessing M. Y., Bonten E. J., Yanishevsky Y., d'Azzo A., Krynetski E. Y. and Evans W. E. (1999) 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. Pharmacogenetics 9, 641-650.
25. Thomae B. A., Rifki O. F., Theobald M. A., Eckloff B. W., Wieben E. D. and Weinshilboum R. M. (2003) Human catecholamine sulfotransferase (SULT1A3) pharmacogenetics: common functional genetic polymorphism. J. Neurochem. 87, 809-819.
26. Wang L., Sullivan W., Toft D. and Weinshilboum R. (2003) Thiopurine S-methyltransferase pharmacogenetics: chaperone protein association and allozyme degradation. Pharmacogenetics 13, 555-564.
27. Wang L., Yee V. C. and Weinshilboum R. M. (2004) Aggresome formation and pharmacogenetics: sulfotransferase 1A3 as a model system. Biochem. Biophys. Res. Commun. 325, 426-433.
28. Wang L., Nguyen T. V., McLaughlin R. W., Sikkink L. A., Ramirez-Alvarado M. and Weinshilboum R. M. (2005) Human thiopurine S-methyltransferase (TPMT) pharmacogenetics: variant misfolding and aggresome formation. Proc. Natl Acad. Sci. USA 102, 9394-9399.
29. Weinshilboum R. and Wang L. (2004) Pharmacogenetics: inherited variation in amino acid sequence and altered protein quantity. Clin. Pharmacol. Ther. 75, 253-258.
30. Wilkinson G. N. (1961) Statistical estimations in enzyme kinetics. Biochem. J. 80, 324-332.
31. Wu S. and Comings D. E. (1999) Two single nucleotide polymorphisms in the promoter region of the human phenylethanolamine N-methyltransferase PNMT gene. Psychiatr. Genet. 9, 198-188.
32. Wurtman R. J. (2002) Stress and the adrenocortical control of epinephrine synthesis. Metabolism 51, 11-14.