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A Transcriptomic Dataset of Embryonic Murine Telencephalon of Fmr1-Deficient Mice
Sara Ebrahimiazar1, Takako Kikkawa2, Yohei Minakuchi3
1Department of Developmental Neuroscience, Tohoku University Graduate School of Medicine, Sendai, Miyagi, 980-8575, Japan.
Scientific Data
|June 2, 2025
Summary
Fragile X syndrome (FXS) involves FMR1 gene mutations, causing autistic behaviors and brain differences. This study reveals sex-specific gene expression patterns in developing mouse brains, highlighting embryonic factors in neurodevelopmental disorders.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder linked to FMR1 gene mutations.
- FXS is associated with autistic behaviors and brain abnormalities, exhibiting significant sex differences.
- The underlying mechanisms driving these sex differences in brain development due to FMR1 deficiency are not well understood.
Purpose of the Study:
- To investigate sex-specific gene expression patterns in the developing brain of Fmr1-knockout mice.
- To identify genetic factors contributing to sex differences in neurodevelopmental disorders.
Main Methods:
- Bulk RNA sequencing was performed on telencephalon samples from male and female Fmr1-knockout mice at embryonic day 14.5.
- Clustering analysis was used to identify gene expression differences influenced by Fmr1 gene dosage and sex.
Main Results:
- Gene expression profiles revealed distinct patterns influenced by both Fmr1 gene dosage and sex.
- A majority of transcripts were shared between sexes, but a notable subset of genes showed sex-unique expression.
- The embryonic period is critical for observing sex-dependent genetic factors.
Conclusions:
- Fmr1 deficiency impacts gene expression in a sex-dependent manner during early brain development.
- Understanding embryonic gene expression is crucial for deciphering sex differences in FXS.
- This research provides insights into the genetic basis of sex-specific neurodevelopmental outcomes in FXS.

