TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

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TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

Caubit, X; Gubellini, P; Andrieux, J; Roubertoux, PL; Metwaly, M; Jacq, B; Fatmi, A; ... Fasano, L; + view all (2016) TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. Nature Genetics , 48 (11) pp. 1359-1369. 10.1038/ng.3681. Green open access

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Abstract

TSHZ3, which encodes a zinc-finger transcription factor, was recently positioned as a hub gene in a module of the genes with the highest expression in the developing human neocortex, but its functions remained unknown. Here we identify TSHZ3 as the critical region for a syndrome associated with heterozygous deletions at 19q12-q13.11, which includes autism spectrum disorder (ASD). In Tshz3-null mice, differentially expressed genes include layer-specific markers of cerebral cortical projection neurons (CPNs), and the human orthologs of these genes are strongly associated with ASD. Furthermore, mice heterozygous for Tshz3 show functional changes at synapses established by CPNs and exhibit core ASD-like behavioral abnormalities. These findings highlight essential roles for Tshz3 in CPN development and function, whose alterations can account for ASD in the newly defined TSHZ3 deletion syndrome.

Type:	Article
Title:	TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons
Location:	United States
Open access status:	An open access version is available from UCL Discovery
DOI:	10.1038/ng.3681
Publisher version:	http://dx.doi.org/10.1038/ng.3681
Language:	English
Additional information:	This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification:	UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI:	https://discovery.ucl.ac.uk/id/eprint/1529966