Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition.

doi:10.1073/pnas.88.24.11315

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Article

Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition.

Proceedings of the National Academy of Sciences of the United States of America - 15 Dec 1991

Muratani K, Hada T, Yamamoto Y, Kaneko T, Shigeto Y, Ohue T, Furuyama J, Higashino K

Abstract excerpt

The human cholinesterase (ChE) gene from a patient with acholinesterasemia was cloned and analyzed. By using ChE cDNA as a probe, four independent clones were isolated from a genomic library constructed from the patient's DNA. Sequencing analysis of all of the four clones revealed that exon 2 of the ChE gene was disrupted by a 342-base-pair (bp) insertion of Alu element, including a poly(A) tract of 38 bp, which...

Topics

Acetylcholinesterase
Alleles
Base Sequence
Chromosomes, Human, Pair 3
Cloning, Molecular
DNA Probes
DNA Transposable Elements
Exons
Female
Genes
Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Introns

Male

Middle Aged

Molecular Sequence Data

Mutation

Oligodeoxyribonucleotides

Source

Open in PubMed Open full text

Identifiers

PMID: 1662391
DOI: 10.1073/pnas.88.24.11315
PMCID: PMC53125

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1662391-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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