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<p>Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the <i>fragile X messenger ribonucleoprotein 1</i> (<i>FMR1</i>) gene. FXS patients exhibit autistic behaviors and abnormal brain structures, with notable sex differences. However, the mechanisms by which <i>Fmr1</i> deficiency leads to these sex differences during brain development remain unclear. In this study, we performed bulk RNA sequencing on telencephalon samples of <i>Fmr1</i>-knockout mice of both sexes at embryonic day (E) 14.5, i.e., at the peak of neurogenesis. Clustering analysis revealed gene expression differences influenced by <i>Fmr1</i> gene dosage and sex. We found that majority of the transcripts were shared between male and female sample groups, while a smaller number were unique to each sex. Our dataset underscores the importance of studying brain development during the embryonic period to detect sex-dependent genetic factors which contribute to neurodevelopmental disorders.</p>

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A Transcriptomic Dataset of Embryonic Murine Telencephalon of Fmr1-Deficient Mice

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年6月2日

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  • Sara Ebrahimiazar,
  • Takako Kikkawa,
  • Yohei Minakuchi,
  • Satoshi Miyashita,
  • Shyu Manabe,
  • Mikio Hoshino,
  • Atsushi Toyoda,
  • Noriko Osumi

摘要

Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. FXS patients exhibit autistic behaviors and abnormal brain structures, with notable sex differences. However, the mechanisms by which Fmr1 deficiency leads to these sex differences during brain development remain unclear. In this study, we performed bulk RNA sequencing on telencephalon samples of Fmr1-knockout mice of both sexes at embryonic day (E) 14.5, i.e., at the peak of neurogenesis. Clustering analysis revealed gene expression differences influenced by Fmr1 gene dosage and sex. We found that majority of the transcripts were shared between male and female sample groups, while a smaller number were unique to each sex. Our dataset underscores the importance of studying brain development during the embryonic period to detect sex-dependent genetic factors which contribute to neurodevelopmental disorders.