A synonymous mutation of rs1137070 cause the Mice Maoa gene transcription and translation to decrease

Monoamine oxidase-A (MAOA) EcoRV polymorphism (rs1137070) is a unique synonymous mutation (c.1409 T >C) of the Maoa gene that plays a role in the expression and Maoa function. This study explored the relationship between the mouse Maoa rs1137070 and the differences in Maoa gene expression. The mouse with the CC genotype of rs1137070 had a lower odds ratio of 2.44 for the Maoa level compared with the T carriers. The TT wild genotype of Maoa had elevated mRNA expression and a longer half-life, significant expression and structure differences of genotype were explored. In addition, the Maoa with different aspartic acid synonymous codons affect Maoa expression and enzyme activity that underlines the association between rs1137070 and Maoa. A dual-luciferase reporter assay confirmed that GAC was more efficient than GAT binding. On the other hand, the synonymous mutation altered the Maoa gene expression in individual mice and RNA pull-down assay suggested that it could affect the interaction with RNA binding protein. The result illustrated that synonymous mutation can indeed regulate the downregulation of gene expression, leading to changes in Maoa function and neurological-related diseases.