AUTHOR=Oe Souichi , Hayashi Shinichi , Tanaka Susumu , Koike Taro , Hirahara Yukie , Seki-Omura Ryohei , Kakizaki Rio , Sakamoto Sumika , Nakano Yosuke , Noda Yasuko , Yamada Hisao , Kitada Masaaki 

TITLE=Cytoplasmic Polyadenylation Element-Binding Protein 1 Post-transcriptionally Regulates Fragile X Mental Retardation 1 Expression Through 3′ Untranslated Region in Central Nervous System Neurons

JOURNAL=Frontiers in Cellular Neuroscience

VOLUME=16

YEAR=2022

URL=https://www.frontiersin.org/journals/cellular-neuroscience/articles/10.3389/fncel.2022.869398

DOI=10.3389/fncel.2022.869398

ISSN=1662-5102

ABSTRACT=<p>Fragile X syndrome (FXS) is an inherited intellectual disability caused by a deficiency in Fragile X mental retardation 1 (<italic>Fmr1</italic>) gene expression. Recent studies have proposed the importance of cytoplasmic polyadenylation element-binding protein 1 (CPEB1) in FXS pathology; however, the molecular interaction between <italic>Fmr1</italic> mRNA and CPEB1 has not been fully investigated. Here, we revealed that CPEB1 co-localized and interacted with <italic>Fmr1</italic> mRNA in hippocampal and cerebellar neurons and culture cells. Furthermore, CPEB1 knockdown upregulated <italic>Fmr1</italic> mRNA and protein levels and caused aberrant localization of Fragile X mental retardation protein in neurons. In an FXS cell model, CPEB1 knockdown upregulated the mRNA levels of several mitochondria-related genes and rescued the intracellular heat shock protein family A member 9 distribution. These findings suggest that CPEB1 post-transcriptionally regulated <italic>Fmr1</italic> expression through the 3′ untranslated region, and that CPEB1 knockdown might affect mitochondrial function.</p>