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Comparative Analyses of Disease Risk Genes Belonging to the Acyl-CoA Synthetase Medium-Chain (ACSM) Family in Human Liver and Cell Lines
被引:40
作者:
Boomgaarden, Inka
[1
]
Vock, Christina
[1
]
Klapper, Maja
[1
]
Doering, Frank
[1
]
机构:
[1] Univ Kiel, Dept Mol Prevent, Inst Human Nutr & Food Sci, D-24118 Kiel, Germany
关键词:
Acyl-CoA synthetase medium-chain (ACSM);
Medium-chain fatty acid;
Liver;
HuH-7;
HepG2;
HUMAN HEPATOCYTES;
FATTY-ACIDS;
SAH;
HYPERTENSION;
EXPRESSION;
CAUCASIANS;
VARIANTS;
SEQUENCE;
HORMONE;
OBESITY;
D O I:
10.1007/s10528-009-9273-z
中图分类号:
Q5 [生物化学];
Q7 [分子生物学];
学科分类号:
071010 ;
081704 ;
摘要:
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.
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页码:739 / 748
页数:10
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