Abramson R D, Barbosa P, Kalumuck K, O'Brien W E
Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030.
Genomics. 1991 May;10(1):126-32. doi: 10.1016/0888-7543(91)90492-w.
A cosmid clone containing the entire human argininosuccinate lyase gene was isolated and characterized. The gene is approximately 35 kb in length and is divided into 16 exons. The sequence surrounding all splice sites was determined, and one unusual 5' splice site sequence in which a GC dinucleotide occurred instead of the consensus GT dinucleotide was observed. The exon structure of the gene is identical to that of the rat and similar to that of the delta-crystallin genes in the chicken. The transcription initiation site was identified, and 252 bases 5' of that site were sequenced. Within that region, the GC content is 75%, no TATA element was observed, and multiple potential Spl and CACCC binding sites were noted. Also, a putative consensus sequence that may play a role in the regulation of urea cycle genes was identified within this region. Analysis of the structure of the mature mRNA derived from this gene revealed that the sequences encoded by exon seven were deleted in approximately 5-10% of the mature mRNA in all tissue sources examined.
分离并鉴定了一个包含完整人类精氨琥珀酸裂解酶基因的黏粒克隆。该基因长度约为35kb，分为16个外显子。测定了所有剪接位点周围的序列，观察到一个不寻常的5'剪接位点序列，其中出现的是GC二核苷酸而非共有序列GT二核苷酸。该基因的外显子结构与大鼠的相同，与鸡的δ-晶状体蛋白基因相似。确定了转录起始位点，并对该位点上游252个碱基进行了测序。在该区域内，GC含量为75%，未观察到TATA元件，发现了多个潜在的Spl和CACCC结合位点。此外，在该区域内鉴定出一个可能在尿素循环基因调控中起作用的假定共有序列。对源自该基因的成熟mRNA结构的分析表明，在所检测的所有组织来源中，约5-10%的成熟mRNA中缺失了外显子7编码的序列。
