ArticleAmerican journal of human genetics1993
Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 84 citations in OpenAlex.
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- 3D analysis of CROMER (DAF) and a new antigen CRAG.Blood transfusion = Trasfusione del sangue · 2022Article
- Article
- Study of Nutraceuticals and Phytochemicals for the Management of Alzheimer's Disease: A Review.Current neuropharmacology · 2021Review
- Erythrocyte acetylcholinesterase as biomarker of pesticide exposure: new and forgotten insights.Environmental science and pollution research international · 2018Review
- Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.Nature genetics · 2018Article
- Immunopurification of Acetylcholinesterase from Red Blood Cells for Detection of Nerve Agent Exposure.Chemical research in toxicology · 2017Article
- Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors.Chemical research in toxicology · 2016Review
- Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle.Transfusion · 2016Article
- A Review on Potential Mechanisms of Terminalia chebula in Alzheimer's Disease.Advances in pharmacological sciences · 2016Review
- Differential sensitivity of plasma carboxylesterase-null mice to parathion, chlorpyrifos and chlorpyrifos oxon, but not to diazinon, dichlorvos, diisopropylfluorophosphate, cresyl saligenin phosphate, cyclosarin thiocholine, tabun thiocholine, and carbofuran.Chemico-biological interactions · 2012Article
- Naturally occurring variations in the human cholinesterase genes: heritability and association with cardiovascular and metabolic traits.The Journal of pharmacology and experimental therapeutics · 2011Article
- Acetylcholinesterase/paraoxonase genotype and expression predict anxiety scores in Health, Risk Factors, Exercise Training, and Genetics study.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
- Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits.The Journal of clinical investigation · 1995Article
- Endogenous butyrylcholinesterase in SV40 transformed cell lines: COS-1, COS-7, MRC-5 SV40, and WI-38 VA13.In vitro cellular & developmental biology. Animal · 1994Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
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.
Indexed as
Identifiers
8488842PMC1682033W1514567038What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.