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Sex-Difference in Olfactory Interhemispheric Malformation Caused by Pax6 Haploinsufficiency
Natsumi Joko1, Takako Kikkawa2, Takayoshi Inoue3
1Department of Developmental Neuroscience, Graduate School of Life Sciences, Tohoku University.
The Tohoku Journal of Experimental Medicine
|June 4, 2025
Summary
Pax6 gene mutations cause structural abnormalities in the anterior commissure (AC), a brain pathway. These AC defects, particularly in females, may underlie sex differences in neurodevelopmental disorders like autism spectrum disorder (ASD).
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Sex differences are crucial in neurodevelopmental disorders, including autism spectrum disorder (ASD).
- The Pax6 gene, associated with ASD, influences sex-dependent phenotypes when mutated.
- Structural abnormalities of the anterior commissure (AC) are observed in ASD and Pax6 mutations.
Purpose of the Study:
- To investigate sex-specific structural abnormalities of the anterior commissure (AC) in Pax6 mutant mice.
- To understand the role of Pax6 in AC development and its sex-dependent effects.
Main Methods:
- Analysis of horizontal and sagittal sections of the anterior commissure (AC) in Pax6 mutant mice.
- Comparative morphological analysis between wild-type and mutant mice, examining both sexes.
Main Results:
- Pax6 haploinsufficiency induced abnormal de-fasciculation in the anterior limb of the AC (aAC) and fiber intermingling at the midline.
- Pax6 mutant females displayed more severe phenotypes, including reduced AC size and disrupted posterior limb (pAC) shape.
- A more severe disruption of the boundary between aAC and pAC axon bundles was observed in mutant females.
Conclusions:
- Pax6 mutation leads to sex-specific structural defects in the anterior commissure (AC).
- These AC morphological alterations in Pax6 mutant mice may contribute to sexually dimorphic phenotypes in neurodevelopmental disorders like ASD.
Keywords:
Pax6 haploinsufficiencyanterior commissuremorphological analysismurine model of neurodevelopmental disorderssex-dependent phenotypesMore Related Videos
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