Structure of the Gene for Human Butyrylcholinesterase. Evidence for a Single Copy

Martine Arpagaus, Matthew Kott, Kostas P. Vatsis, Cynthia F. Bartels, Bert N.La Du, Oksana Lockridge

Research output: Contribution to journalArticlepeer-review

155 Scopus citations


We have isolated five genomic clones for human butyrylcholinesterase (BChE), using cDNA probes encoding the catalytic subunit of the hydrophilic tetramer [McTiernan et al. (1987) Proe. Natl. Acad. Sci. U.S.A. 84, 6682–6686], The BChE gene is at least 73 kb long and contains four exons. Exon 1 contains untranslated sequences and two potential translation initiation sites at codons −69 and −47. Exon 2 (1525 bp) contains 83% of the coding sequence for the mature protein, including the N-terminal and the active-site serine, and a third possible translation initiation site (likely functional), at codon −28. Exon 3 is 167 nucleotides long. Exon 4 (604 bp) codes for the C-terminus of the protein and the 3′ untranslated region where two polyadenylation signals were identified. Intron 1 is 6.5 kb long, and the minimal sizes of introns 2 and 3 are estimated to be 32 kb each. Southern blot analysis of total human genomic DNA is in complete agreement with the gene structure established by restriction endonuclease mapping of the genomic clones: This strongly suggests that the BChE gene is present in a single copy.

Original languageEnglish (US)
Pages (from-to)124-131
Number of pages8
Issue number1
StatePublished - Jan 1 1990
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry


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