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Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism.
Eppley Institute, University of Nebraska Medical Center, Omaha 68198-6805.
Acetylcholinesterase is present in innervated tissues, where its function is to terminate nerve impulse transmission. It is also found in the red blood cell membrane, where its function is unknown. We report the first genetic variant of human acetylcholinesterase and support the identity of acetylcholinesterase as the YT blood group antigen. DNA sequencing shows that the wild-type sequence of acetylcholinesterase with His322 (CAC) is the YT1 blood group antigen and that the rare variant of acetylcholinesterase with Asn322 (AAC) is the YT2 blood group antigen. Two additional point mutations in the acetylcholinesterase gene do not affect the amino acid sequence of the mature enzyme.
PMID: 8488842 [PubMed - indexed for MEDLINE]
PMCID: PMC1682033
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Cited by 2 PubMed Central articles
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Acetylcholinesterase/paraoxonase genotype and expression predict anxiety scores in Health, Risk Factors, Exercise Training, and Genetics study.
Sklan EH, Lowenthal A, Korner M, Ritov Y, Landers DM, Rankinen T, Bouchard C, Leon AS, Rice T, Rao DC, et al.
Proc Natl Acad Sci U S A. 2004 Apr 13; 101(15):5512-7. Epub 2004 Apr 1.
[Proc Natl Acad Sci U S A. 2004]
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Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits.
Camp S, Bon S, Li Y, Getman DK, Engel AG, Massoulié J, Taylor P.
J Clin Invest. 1995 Jan; 95(1):333-40.
[J Clin Invest. 1995]