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ORIGINAL RESEARCH article

Front. Mol. Neurosci.
Sec. Methods and Model Organisms
Volume 17 - 2024 | doi: 10.3389/fnmol.2024.1406708

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

Provisionally accepted
Kaixin Li Kaixin Li 1Hou Hongwei Hou Hongwei 2*Fanglin Liu Fanglin Liu 3*Huan Chen Huan Chen 2*
  • 1 School of Life Science, USTC Life Sciences and Medicine, Hefei, Anhui Province, China
  • 2 Zhengzhou Tobacco Research Institute of CNTC, Zhengzhou, Henan Province, China
  • 3 Hefei Institutes of Physical Science, Chinese Academy of Sciences (CAS), Hefei, Anhui Province, China

The final, formatted version of the article will be published soon.

    The Monoamine oxidase-A (MAOA) EcoRV polymorphism (rs1137070) is a unique synonymous mutation (c.1409 T > C) within the MAOA gene, which plays a crucial role in MAOA gene expression and function. This study aimed to explore the relationship between the mouse Maoa rs1137070 genotype and differences in Maoa gene expression. Mice carrying the CC genotype of rs1137070 exhibited a significantly lower Maoa expression level, with an odds ratio of 2.44 compared to the T carriers.Moreover, the wild-type TT genotype of MAOAMaoa demonstrated elevated mRNA expression and a longer half-life. We also delved into the significant expression and structural disparities among genotypes.Furthermore, it was evident that different aspartic acid synonymous codons within Maoa influenced both Maoa MAOA expression and enzyme activity, highlighting the association between rs1137070 and MaoaMAOA. To substantiate these findings, a dual-luciferase reporter assay confirmed that GAC was more efficient than GAT binding. Conversely, the synonymous mutation altered Maoa gene expression in individual mice. An RNA pull-down assay suggested that this alteration could impact the interaction with RNA-binding proteins. In summary, our results illustrate that synonymous mutations can indeed regulate the downregulation of gene expression, leading to changes in Maoa MAOA function and their potential association with neurological-related diseases.

    Keywords: Maoa EcoRV polymorphism, Monoamine oxidase A, synonymous mutation, rs1137070, mouse model

    Received: 25 Mar 2024; Accepted: 03 Jul 2024.

    Copyright: © 2024 Li, Hongwei, Liu and Chen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Hou Hongwei, Zhengzhou Tobacco Research Institute of CNTC, Zhengzhou, 450001, Henan Province, China
    Fanglin Liu, Hefei Institutes of Physical Science, Chinese Academy of Sciences (CAS), Hefei, 230031, Anhui Province, China
    Huan Chen, Zhengzhou Tobacco Research Institute of CNTC, Zhengzhou, 450001, Henan Province, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.