Deeb S S, Peng R L
Department of Medicine, University of Washington, Seattle 98195.
Biochemistry. 1989 May 16;28(10):4131-5. doi: 10.1021/bi00436a001.
Human genomic clones that span the entire lipoprotein lipase (LPL) gene have been isolated and used to determine its structure. The gene is approximately 30 kilobase (kb) pairs in length in which the mRNA specifying sequence is divided into 10 exons. Exons 1-9 are of average size (105-276 bp) whereas exon 10, which specifies the entire 3' uncoding sequence, is 1948 bp in length. Exon 1 codes for the signal peptide, exon 2 includes the protein domain that was shown to bind to the lipoprotein substrate, and exons 6 and 9 code for sequences that are relatively rich in basic amino acids and therefore likely to be involved in anchoring of the enzyme to the capillary endothelium by interaction with the acidic domain of heparan sulfate. Four closely spaced mRNA 5' termini were observed, indicating multiple transcription initiation sites, one of which seems to be favored. Two potential enhancer sequence motifs in the 5' upstream region were observed. One may specify expression in response to intracellular Ca2+ mobilization, and the other may be responsible for expression in adipocytes.
已分离出跨越整个脂蛋白脂肪酶（LPL）基因的人类基因组克隆，并用于确定其结构。该基因长度约为30千碱基对（kb），其中指定mRNA的序列被分为10个外显子。外显子1 - 9大小平均（105 - 276碱基对），而指定整个3'非编码序列的外显子10长度为1948碱基对。外显子1编码信号肽，外显子2包含已证明与脂蛋白底物结合的蛋白质结构域，外显子6和9编码相对富含碱性氨基酸的序列，因此可能通过与硫酸乙酰肝素的酸性结构域相互作用参与将该酶锚定到毛细血管内皮。观察到四个紧密间隔的mRNA 5'末端，表明有多个转录起始位点，其中一个似乎更受青睐。在5'上游区域观察到两个潜在的增强子序列基序。一个可能指定响应细胞内Ca2+动员的表达，另一个可能负责在脂肪细胞中的表达。
