title: Comparative analyses of disease risk genes belonging to the acyl-CoA synthetase medium-chain (ACSM) family in human liver and cell lines.
abstract: The human ACSM1, 2A and B, 3, and 5 genes, located on chromosome 16p12-13, encode for enzymes catalyzing the activation of medium-chain length fatty acids. Association studies have linked several polymorphisms of these genes to traits of insulin resistance syndrome. In our study, ACSM transcripts showed 3 to >400-fold higher expression levels in human liver when compared to cell lines by qRT-PCR. This difference was also evident at the protein level, as shown for ACSM2. In liver, ACSM2 was the most abundant transcript, showing sixfold (vs. ACSM3) to >300-fold higher expression levels (vs. ACSM1). Mitochondrial localization of the ACSM2 protein and the presence of an N-terminal targeting sequence were shown by GFP-tagging. We have shown ACSM2B to be the predominant transcript in human liver, and genetic variations of this gene could therefore play an important role in disease susceptibility.
authors.affiliation: Department of Molecular Prevention, Institute of Human Nutrition and Food Science, Christian-Albrechts-University Kiel, Heinrich-Hecht-Platz 10, 24118 Kiel, Germany.
authors.forename: Inka
authors.initials: I
authors.lastname: Boomgaarden
authors.forename: Christina
authors.initials: C
authors.lastname: Vock
authors.forename: Maja
authors.initials: M
authors.lastname: Klapper
authors.forename: Frank
authors.initials: F
authors.lastname: Döring
mesh_terms: D002460:Cell Line; D003066:Coenzyme A Ligases / Q000235:genetics* / Q000378:metabolism; D015971:Gene Expression Regulation, Enzymologic; D020022:Genetic Predisposition to Disease; D006801:Humans; D042541:Intracellular Space / Q000378:metabolism; D008099:Liver / Q000166:cytology / Q000201:enzymology*; D021381:Protein Transport; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D003066:Coenzyme A Ligases