Article (Scientific journals)
The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating patterning of prethalamus and ventral telencephalon.
Magnani, D; Morlé, L; Hasenpusch-Theil, K et al.
2015In Human Molecular Genetics, 24, p. 2578-2593
Peer Reviewed verified by ORBi
 

Files


Full Text
Final PDF HMG.pdf
Publisher postprint (1.78 MB)
Download

All documents in ORBi are protected by a user license.

Send to



Details



Keywords :
Inpp5e; primary cilium; phosphoinositide
Abstract :
[en] Primary cilia are complex subcellular structures that play key roles during embryogenesis by controlling the cellular response to several signaling pathways. Defects in the function and/or structure of primary cilia underlie a large number of human syndromes collectively referred to as ciliopathies. Often, ciliopathies are associated with mental retardation (MR) and malformation of the corpus callosum. However, the possibility of defects in other forebrain axon tracts, which could contribute to the cognitive disorders of these patients, has not been explored. Here, we investigate the formation of the corticothalamic/thalamocortical tracts in mice mutant for Rfx3, which regulates the expression of many genes involved in ciliogenesis and cilia function. Using DiI axon tracing and immunohistochemistry experiments, we show that some Rfx3-/- corticothalamic axons abnormally migrate toward the pial surface of the ventral telencephalon (VT). Some thalamocortical axons (TCAs) also fail to leave the diencephalon or abnormally project toward the amygdala. Moreover, the Rfx3-/- VT displays heterotopias containing attractive guidance cues and expressing the guidance molecules Slit1 and Netrin1. Finally, the abnormal projection of TCAs toward the amygdala is also present in mice carrying a mutation in the Inpp5e gene, which is mutated in Joubert Syndrome and which controls cilia signaling and stability. The presence of identical thalamocortical malformations in two independent ciliary mutants indicates a novel role for primary cilia in the formation of the corticothalamic/thalamocortical tracts by establishing the correct cellular environment necessary for its development.
Disciplines :
Biochemistry, biophysics & molecular biology
Author, co-author :
Magnani, D
Morlé, L
Hasenpusch-Theil, K
Paschaki, M
Jacoby, M
Schurmans, Stéphane  ;  Université de Liège - ULiège > Département de sciences fonctionnelles (DSF) > Biochimie métabolique vétérinaire
Durand B, B
Theil, T
Language :
English
Title :
The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating patterning of prethalamus and ventral telencephalon.
Publication date :
2015
Journal title :
Human Molecular Genetics
ISSN :
0964-6906
eISSN :
1460-2083
Publisher :
Oxford University Press, Oxford, United Kingdom
Volume :
24
Pages :
2578-2593
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 05 March 2015

Statistics


Number of views
161 (10 by ULiège)
Number of downloads
333 (1 by ULiège)

Scopus citations®
 
19
Scopus citations®
without self-citations
16
OpenCitations
 
24

Bibliography


Similar publications



Contact ORBi