通过比较测序揭示的一种影响人类和小鼠甘油三酯的载脂蛋白。
An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing.
作者信息
Pennacchio L A, Olivier M, Hubacek J A, Cohen J C, Cox D R, Fruchart J C, Krauss R M, Rubin E M
机构信息
Genome Sciences Department, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.
出版信息
Science. 2001 Oct 5;294(5540):169-73. doi: 10.1126/science.1064852.
Comparison of genomic DNA sequences from human and mouse revealed a new apolipoprotein (APO) gene (APOAV) located proximal to the well-characterized APOAI/CIII/AIV gene cluster on human 11q23. Mice expressing a human APOAV transgene showed a decrease in plasma triglyceride concentrations to one-third of those in control mice; conversely, knockout mice lacking Apoav had four times as much plasma triglycerides as controls. In humans, single nucleotide polymorphisms (SNPs) across the APOAV locus were found to be significantly associated with plasma triglyceride levels in two independent studies. These findings indicate that APOAV is an important determinant of plasma triglyceride levels, a major risk factor for coronary artery disease.
人类和小鼠基因组DNA序列的比较揭示了一个新的载脂蛋白（APO）基因（APOAV），它位于人类11号染色体q23上已被充分研究的APOAI/CIII/AIV基因簇的近端。表达人类APOAV转基因的小鼠血浆甘油三酯浓度降至对照小鼠的三分之一；相反，缺乏Apoav的基因敲除小鼠血浆甘油三酯含量是对照小鼠的四倍。在人类中，两项独立研究发现，APOAV基因座上的单核苷酸多态性（SNP）与血浆甘油三酯水平显著相关。这些发现表明，APOAV是血浆甘油三酯水平的一个重要决定因素，而血浆甘油三酯水平是冠状动脉疾病的一个主要危险因素。
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