Journal article
Mutations and impaired expression in the ACHE and BCHE genes: neurological implications
Biomedicine & pharmacotherapy, v 48(5)
1994
PMID: 7999987
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
The acetylcholine hydrolysing cholinesterases control the termination of cholinergic signalling in multiple tissues and are targets for a variety of drugs, natural and man-made poisons and common insecticides. Molecular cloning and gene mapping studies revealed the primary structure of human acetyl- and butyrylcholinesterase and localized the corresponding ACHE and BCHE genes to the chromosomal positions 3q26-ter and 7q22, respectively. Several different point mutations in the coding region of BCHE were found to be particularly abundant in the Israeli population. Analytical expression studies in microinjected
Xenopus oocytes have demonstrated that the biochemical properties of cholinesterases may be modified by rationalized site-directed mutagenesis and in chimeric ACHE/BCHE constructs. These properties are differently altered in the various allelic BCHE variants, conferring resistance to several anti-cholinesterases, which may explain the evolutionary emergence of these multiple alleles. At the clinical level, abnormal expression of both ACHE and BCHE and the
in vivo amplification of the ACHE and BCHE genes has been variously associated with abnormal megakaryocytopoiesis, leukemias and brain and ovarian tumors. Moreover, antisense oligonucleotides blocking the expression of these genes were shown to interfere with hemocytopoiesis in culture, implicating these genes in cholinergic influence on cell growth and proliferation.
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Details
- Title
- Mutations and impaired expression in the ACHE and BCHE genes: neurological implications
- Creators
- H. oreq - Department of Biological Chemistry. The Life Sciences Institute, The Hebrew University, Jerusalem 91904, IsraelG. Ehrlich - Life Sciences InstituteM. Schwarz - Life Sciences InstituteY. Loewenstein - Life Sciences InstituteD. Glick - Life Sciences InstituteH. Zakut - Wolfson Medical Center
- Publication Details
- Biomedicine & pharmacotherapy, v 48(5)
- Publisher
- Elsevier SAS
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Microbiology and Immunology
- Web of Science ID
- WOS:A1994NU00300011
- Scopus ID
- 2-s2.0-0028343386
- Other Identifier
- 991019196677404721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Medicine, Research & Experimental
- Pharmacology & Pharmacy