αT-catenin in restricted brain cell types and its potential connection to autism
- Author
- Stephen Sai Folmsbee, Douglas R Wilcox, Koen Tyberghein (UGent) , Pieter De Bleser (UGent) , Warren G Tourtellotte, Jolanda van Hengel (UGent) , Frans Van Roy (UGent) and Cara J Gottardi
- Organization
- Abstract
- BACKGROUND: Recent genetic association studies have linked the cadherin-based adherens junction protein alpha-T-catenin (αT-cat, CTNNA3) with the development of autism. Where αT-cat is expressed in the brain, and how its loss could contribute to this disorder, are entirely unknown. METHODS: We used the αT-cat knockout mouse to examine the localization of αT-cat in the brain, and we used histology and immunofluorescence analysis to examine the neurobiological consequences of its loss. RESULTS: We found that αT-cat comprises the ependymal cell junctions of the ventricles of the brain, and its loss led to compensatory upregulation of αE-cat expression. Notably, αT-cat was not detected within the choroid plexus, which relies on cell junction components common to typical epithelial cells. While αT-cat was not detected in neurons of the cerebral cortex, it was abundantly detected within neuronal structures of the molecular layer of the cerebellum. Although αT-cat loss led to no overt differences in cerebral or cerebellar structure, RNA-sequencing analysis from wild type versus knockout cerebella identified a number of disease-relevant signaling pathways associated with αT-cat loss, such as GABA-A receptor activation. CONCLUSIONS: These findings raise the possibility that the genetic associations between αT-cat and autism may be due to ependymal and cerebellar defects, and highlight the potential importance of a seemingly redundant adherens junction component to a neurological disorder.
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Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-8522270
- MLA
- Folmsbee, Stephen Sai, et al. “ΑT-Catenin in Restricted Brain Cell Types and Its Potential Connection to Autism.” JOURNAL OF MOLECULAR PSYCHIATRY, vol. 4, 2016, doi:10.1186/s40303-016-0017-9.
- APA
- Folmsbee, S. S., Wilcox, D. R., Tyberghein, K., De Bleser, P., Tourtellotte, W. G., van Hengel, J., … Gottardi, C. J. (2016). αT-catenin in restricted brain cell types and its potential connection to autism. JOURNAL OF MOLECULAR PSYCHIATRY, 4. https://doi.org/10.1186/s40303-016-0017-9
- Chicago author-date
- Folmsbee, Stephen Sai, Douglas R Wilcox, Koen Tyberghein, Pieter De Bleser, Warren G Tourtellotte, Jolanda van Hengel, Frans Van Roy, and Cara J Gottardi. 2016. “ΑT-Catenin in Restricted Brain Cell Types and Its Potential Connection to Autism.” JOURNAL OF MOLECULAR PSYCHIATRY 4. https://doi.org/10.1186/s40303-016-0017-9.
- Chicago author-date (all authors)
- Folmsbee, Stephen Sai, Douglas R Wilcox, Koen Tyberghein, Pieter De Bleser, Warren G Tourtellotte, Jolanda van Hengel, Frans Van Roy, and Cara J Gottardi. 2016. “ΑT-Catenin in Restricted Brain Cell Types and Its Potential Connection to Autism.” JOURNAL OF MOLECULAR PSYCHIATRY 4. doi:10.1186/s40303-016-0017-9.
- Vancouver
- 1.Folmsbee SS, Wilcox DR, Tyberghein K, De Bleser P, Tourtellotte WG, van Hengel J, et al. αT-catenin in restricted brain cell types and its potential connection to autism. JOURNAL OF MOLECULAR PSYCHIATRY. 2016;4.
- IEEE
- [1]S. S. Folmsbee et al., “αT-catenin in restricted brain cell types and its potential connection to autism,” JOURNAL OF MOLECULAR PSYCHIATRY, vol. 4, 2016.
@article{8522270, abstract = {{BACKGROUND: Recent genetic association studies have linked the cadherin-based adherens junction protein alpha-T-catenin (αT-cat, CTNNA3) with the development of autism. Where αT-cat is expressed in the brain, and how its loss could contribute to this disorder, are entirely unknown. METHODS: We used the αT-cat knockout mouse to examine the localization of αT-cat in the brain, and we used histology and immunofluorescence analysis to examine the neurobiological consequences of its loss. RESULTS: We found that αT-cat comprises the ependymal cell junctions of the ventricles of the brain, and its loss led to compensatory upregulation of αE-cat expression. Notably, αT-cat was not detected within the choroid plexus, which relies on cell junction components common to typical epithelial cells. While αT-cat was not detected in neurons of the cerebral cortex, it was abundantly detected within neuronal structures of the molecular layer of the cerebellum. Although αT-cat loss led to no overt differences in cerebral or cerebellar structure, RNA-sequencing analysis from wild type versus knockout cerebella identified a number of disease-relevant signaling pathways associated with αT-cat loss, such as GABA-A receptor activation. CONCLUSIONS: These findings raise the possibility that the genetic associations between αT-cat and autism may be due to ependymal and cerebellar defects, and highlight the potential importance of a seemingly redundant adherens junction component to a neurological disorder.}}, articleno = {{2}}, author = {{Folmsbee, Stephen Sai and Wilcox, Douglas R and Tyberghein, Koen and De Bleser, Pieter and Tourtellotte, Warren G and van Hengel, Jolanda and Van Roy, Frans and Gottardi, Cara J}}, issn = {{2049-9256}}, journal = {{JOURNAL OF MOLECULAR PSYCHIATRY}}, language = {{eng}}, pages = {{13}}, title = {{αT-catenin in restricted brain cell types and its potential connection to autism}}, url = {{http://doi.org/10.1186/s40303-016-0017-9}}, volume = {{4}}, year = {{2016}}, }
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