Title |
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons
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Published in |
Nature Genetics, September 2016
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DOI | 10.1038/ng.3681 |
Pubmed ID | |
Authors |
Xavier Caubit, Paolo Gubellini, Joris Andrieux, Pierre L Roubertoux, Mehdi Metwaly, Bernard Jacq, Ahmed Fatmi, Laurence Had-Aissouni, Kenneth Y Kwan, Pascal Salin, Michèle Carlier, Agne Liedén, Eva Rudd, Marwan Shinawi, Catherine Vincent-Delorme, Jean-Marie Cuisset, Marie-Pierre Lemaitre, Fatimetou Abderrehamane, Bénédicte Duban, Jean-François Lemaitre, Adrian S Woolf, Detlef Bockenhauer, Dany Severac, Emeric Dubois, Ying Zhu, Nenad Sestan, Alistair N Garratt, Lydia Kerkerian-Le Goff, Laurent Fasano |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 3 | 25% |
Ireland | 1 | 8% |
Belgium | 1 | 8% |
Unknown | 7 | 58% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 7 | 58% |
Scientists | 4 | 33% |
Science communicators (journalists, bloggers, editors) | 1 | 8% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | <1% |
Unknown | 103 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 25 | 24% |
Student > Ph. D. Student | 20 | 19% |
Student > Bachelor | 14 | 13% |
Student > Master | 8 | 8% |
Student > Doctoral Student | 4 | 4% |
Other | 14 | 13% |
Unknown | 19 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 28 | 27% |
Neuroscience | 18 | 17% |
Biochemistry, Genetics and Molecular Biology | 13 | 13% |
Medicine and Dentistry | 10 | 10% |
Psychology | 7 | 7% |
Other | 4 | 4% |
Unknown | 24 | 23% |