Karathanasis S K, McPherson J, Zannis V I, Breslow J L
Nature. 1983;304(5924):371-3. doi: 10.1038/304371a0.
It has recently been suggested that polymorphisms in the human apolipoprotein A-I (apo A-I) gene locus may be related to the development of premature atherosclerosis and hypertriglyceridaemia. To understand if and how these polymorphisms affect apo A-I gene expression, we studied the genomic sequences flanking the apo A-I gene. Here we show the presence of another apolipoprotein gene, apolipoprotein C-III (apo C-III), approximately 2.6 kilobases (kb) downstream of the 3' end of the apo A-I gene. We also show that the apo A-I and apo C-III genes are convergently transcribed and that a polymorphism previously reported to be associated with hypertriglyceridaemia may be due to a single base pair substitution in the 3'-noncoding region of apo C-III mRNA.
最近有人提出，人类载脂蛋白A-I（apo A-I）基因位点的多态性可能与早发性动脉粥样硬化和高甘油三酯血症的发生有关。为了了解这些多态性是否以及如何影响apo A-I基因表达，我们研究了apo A-I基因两侧的基因组序列。在此我们发现，在apo A-I基因3'端下游约2.6千碱基（kb）处存在另一个载脂蛋白基因，即载脂蛋白C-III（apo C-III）。我们还表明，apo A-I和apo C-III基因是反向转录的，并且先前报道的与高甘油三酯血症相关的多态性可能是由于apo C-III mRNA 3'非编码区的单个碱基对替换所致。
