Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase

Pharmacogenetics and Genomics

Volumn 17, Issue 9, 2007, Pages 681-685

  Mikami, Liya R ^a,b   Wieseler, Stacy ^b   Souza, Ricardo L R ^a   Schopfer, Lawrence M ^b   Lockridge, Oksana ^b   Chautard Freire Maia, Eleidi A ^a  

^a FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

Author keywords

Apnea; BCHE gene; Butyrylcholinesterase mutations; Gene expression

Indexed keywords

CHOLINESTERASE; RECOMBINANT BUTYRYLCHOLINESTERASE; SUXAMETHONIUM; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; CRYSTAL STRUCTURE; GENE EXPRESSION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; WESTERN BLOTTING;

ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ANIMALS; BUTYRYLCHOLINESTERASE; CELL LINE; CHO CELLS; CRICETINAE; CRICETULUS; GENE EXPRESSION; HUMANS; KINETICS; MODELS, MOLECULAR; MUTAGENESIS, SITE-DIRECTED; PHARMACOGENETICS; PHENOTYPE; RECOMBINANT PROTEINS; TRANSFECTION; VARIATION (GENETICS);

CRICETULUS GRISEUS;

EID: 34547914796     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/01.fpc.0000236333.49422.86     Document Type: Article

References (20)

1. Primo-Parmo SL, Bartels CF, Wiersema B, Van der Spek AFL, Innis JW, La Du BN. Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene. Am J Hum Genet 1996; 58:52-64.
2. O'Brien KK, Saxby BK, Ballard CG, Grace J, Harrington F, Ford GA, et al. Regulation of attention and response to therapy in dementia by butyrylcholinesterase. Pharmacogenetics 2003; 13:231-239.
3. Grantham R. Amino acid difference formula to help explain protein evolution. Science 1974; 185:862-864.
4. Graur D, Li WH. Fundamentals of molecular evolution. 2nd ed. Sunderland: Sinauer Associates; 2000.
5. Souza RLR, Mikami LR, Maegawa ROB, Chautard-Freire-Maia EA. Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample. Mol Genet Metab 2005; 84:349-353.
6. Xie W, Altamirano CV, Bartels CF, Speirs RJ, Cashman JR, Lockridge O. An improved cocaine hydrolase: the A328Y mutant of human butyrylcholinesterase is 4-fold more efficient. Mol Pharmacol 1999; 55:83-91.
7. Masson P, Froment MT, Bartels CF, Lockridge O. Importance of aspartate 70 in organophosphate inhibition, oxime re-activation and aging of human butyrylcholinesterase. Biochem J 1997; 325:53-61.
8. Ellman GL, Courtney KD, Andres V, Featherstone RM. A new and rapid colorimetric determination of acetylcholinesterase activity. Biochem Pharmacol 1961; 7:88-95.
9. Aditai G, Moura D, Abane R, Doctor BP. Inhibition of acetylcholinesterase and butyrylcholinesterase by chlorpyrifos-oxon. Biochem Pharmacol 1998; 56:293-299.
10. Smith PK, Krohn RI, Hermanson GT, Mallia AK, Gartner FH, Provenzano MD, et al. Measurement of protein using bicinchoninic acid. Anal Biochem 1985; 150:76-85.
11. Nicolet Y, Lockridge O, Masson P, Fontecilla-Camps JC, Nachon F. Crystal structure of human butyrylcholinesterase and of its complexes with substrate and products. J Biol Chem 2003; 278:41141-41147.
12. ENTREZ search and retrieval system. Available at: http://www.ncbi.nlm. nih.gov/entrez/viewer.fcgi?db=protein&val=34810859 [Accessed on 31 October 2005].
13. ENTREZ search and retrieval system. Available at: http://www.ncbi.nlm. nih.gov/entrez/query.fcgi?db=Nucleotide [Accessed on 11 August 2004].
14. Cygler M, Schrag JD, Sussman JL, Harel M, Silman I, Gentry MK, et al. Relationship between sequence conservation and three-dimensional structure in a large family of esterases, lipases, and related proteins. Protein Sci 1993; 2:366-382.
15. Broomfield CA, Maxwell DM, Solana RP, Castro CA, Finger AV, Lenz DE. Protection by butyrylcholinesterase against organophosphorus poisoning in nonhuman primates. J Pharmacol Exp Ther 1991; 259:633-638.
16. Doctor BP, Maxwell DM, Ashani Y, Saxena A, Gordon RK. New approaches to medical protection against chemical warfare nerve agents. In: Somani SM, Romano JA, editors. Chemical warfare agents: toxicity at low levels. Boca Raton: CRC Press; 2001; pp. 191-214.
17. Fontoura-da-Silva SE, Chautard-Freire-Maia EA. Butyrylcholinesterase variants (BCHE and CHE2 Loci) associated with erythrocyte acetylcholinesterase inhibition in farmers exposed to pesticides. Hum Hered 1996; 46:142-147.
18. Loewenstein-Lichtenstein Y, Schwarz M, Glick D, Norgaard-Pedersen B, Zakut H, Soreq H. Genetic predisposition to adverse consequences of anticholinesterases in 'atypical' BCHE carriers. Nat Med 1995; 1:1082-1085.
19. McGehee DS, Krasowski MD, Fung DL, Wilson B, Gronert GA, Moss J. Cholinesterase inhibition by potato glycoalkaloids slows mivacurium metabolism. Anesthesiology 2000; 93:510-519.
20. Holmes C, Ballard C, Lehmann D, David Smith A, Beaumont H, Day IN, et al. Rate of progression of cognitive decline in Alzheimer's disease: effect of butyrylcholinesterase K gene variation. J Neurol Neurosurg Psychiatry 2005; 76:640-643.