Alteration of Splicing Pattern on Angiotensin Converting Enzyme Gene Due To The Insertion of Alu elements

Dian Laila Purwaningroom1 Purwaningroom, Mohammad Saifurrohman, Nashi Widodo, Jayarani Fatimah Putri, Mifetika Lukitasari


Angiotensin Converting Enzyme (ACE) is a zinc metallopeptidase that has a significant role in blood pressure regulation and the pathophysiology of hypertension. ACE has two protein domains, the N-domain and the C-domain, which each has a single active site that functions independently of each other. There is insertion/deletion by 288 bp Alu elements in the intron 16 of ACE gene. The Alu elements potentially alter splicing process. The effect of the insertion of Alu elements in the splicing pattern of the ACE gene has not been reported. Here, we report on the results of splicing pattern analysis of the ACE gene due to the insertion of Alu elements. Using an in-silico approach, we found the presence of Alu elements insertion in intron 16 of ACE caused alternative splicing and experienced exonization. Further analysis showed that the exonization lead to a premature termination codon (PTC), which is raised protein shortening and lost one of its two protein domains. The loss of one protein domain may affect the catalytic activity of ACE. These findings suggest that the Alu elements I/D polymorphism is related to the differences in the catalytic activity of ACE that may influence blood pressure regulation and hypertension.

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