Human fatty acid ethyl ester synttiase-III gene: Genomic organization, nucleotide sequencing and chromosomal localization

Abstract

The complete gene for human fatty acid ethyl ester Synthase-III(FAEES-III) was isolated from a human genomic lambda phage library forfunctional and structural determination. The gene spans approximately 3.3 kbwhich includes 791 base pairs of the 5′ and 124 base pairs of the 3′flanking regions. The gene is comprised of seven exons and is interrupted bysix introns. Several transcription regulatory sequences were identified inthe promoter region. Primer extension experiments demonstrated the existenceof two possible transcription initiation sites at nucleotide -29 and 32position, 5' to the start of the translation. In addition to a TATA box atposition -29 relative to the transcription initiation site and two SplGGGCGG recognition sequences at nucleotide positions -42 to -37 and -50 to-45, the promoter contains a sequence motif matching the transcriptionactivating factor AP-1. We also found an A + T rich region betweennucleotide -505 and -390 which contained twenty-two AAAAT tandem repeats.The gene for FAEES-III was localized to human chromosome 11 by hybridizingthe genomic fragment Xh01 to Chinese hamster/human somatic cell hybridpanels. These data extend our knowledge of non-oxidative alcohol metabolismand permit linkage analyses between this pathway and alcohol-relatedphenotypes.