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

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.
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https://hal.archives-ouvertes.fr/hal-01432295
Contributor : Jean-Baptiste Melmi <>
Submitted on : Wednesday, January 11, 2017 - 4:34:00 PM
Last modification on : Wednesday, September 23, 2020 - 4:33:54 AM

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Xavier Caubit, Paolo Gubellini, Joris Andrieux, Pierre L. Roubertoux, Mehdi Metwaly, et al.. TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. Nature Genetics, Nature Publishing Group, 2016, 48 (11), pp.1359-1369. ⟨10.1038/ng.3681⟩. ⟨hal-01432295⟩

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