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TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons
Xavier Caubit
1
Paolo Gubellini
1
Joris Andrieux
2
Pierre L. Roubertoux
3
Mehdi Metwaly
1
Bernard Jacq
1
Ahmed Fatmi
1
Laurence Had-Aissouni
1
Kenneth Y. Kwan
4, 5
Pascal Salin
1
Michèle Carlier
6
Agne Liedén
7
Eva Rudd
7
Marwan Shinawi
8
Catherine Vincent-Delorme
9
Jean-Marie Cuisset
10
Marie-Pierre Lemaitre
10
Fatimetou Abderrehamane
2
Benedicte Duban
11
Jean-François Lemaître
11
Adrian S. Woolf
12
Detlef Bockenhauer
13
Dany Severac
14
Emeric Dubois
14
Ying Zhu
4
Nenad Sestan
4
Alistair N. Garratt
15
Lydia Kerkerian-Le Goff
1
Laurent Fasano
1
14
IGF MGX - Institut de Génomique Fonctionnelle - Montpellier GenomiX
IGF - Institut de Génomique Fonctionnelle
Xavier Caubit 1
Author
Paolo Gubellini 1
Author IdHAL : paolo-gubellini ORCID : https://orcid.org/0000-0002-4668-9136
Joris Andrieux 2
Author
Pierre L. Roubertoux 3
Author IdHAL : pierre-roubertoux ORCID : https://orcid.org/0000-0001-9013-2725
Kenneth Y. Kwan 4, 5
Author
Pascal Salin 1
Author
Michèle Carlier 6
Author IdHAL : michele-carlier
Agne Liedén 7
Author
Eva Rudd 7
Author
Marwan Shinawi 8
Author
Catherine Vincent-Delorme 9
Author
Jean-Marie Cuisset 10
Author
Marie-Pierre Lemaitre 10
Author
Fatimetou Abderrehamane 2
Author
Benedicte Duban 11
Author
Jean-François Lemaître 11
Author
Adrian S. Woolf 12
Author
Detlef Bockenhauer 13
Author
Dany Severac 14
Author
Emeric Dubois 14
Author
Ying Zhu 4
Author
Nenad Sestan 4
Author
Alistair N. Garratt 15
Author
Lydia Kerkerian-Le Goff 1
Author IdHAL : lydia-kerkerian-le-goff ORCID : https://orcid.org/0000-0002-7951-3479
Laurent Fasano 1
Author
1
IBDM - Institut de Biologie du Développement de Marseille (Case 907 - Parc Scientifique de Luminy 13288 Marseille Cedex 9 - France)
- AMU - Aix Marseille Université : UMR7288 (Aix-Marseille Université Jardins du Pharo 58 Boulevard Charles Livon 13284 Marseille cedex 7 - France)
- CdF (institution) - Collège de France (France)
- CNRS - Centre National de la Recherche Scientifique : UMR7288 (France)
2
Institut de Génétique Médicale [CHRU Lille] (France)
- Hôpital Jeanne de Flandre [Lille] (France)
- CHRU Lille - Centre Hospitalier Régional Universitaire [Lille] (2, avenue Oscar Lambret - 59037 Lille Cedex - France)
3
GMGF - Génétique Médicale et Génomique Fonctionnelle (Faculté de Médecine - 27 boulevard Jean Moulin 13385 Marseille Cedex 05 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U910 (101, rue de Tolbiac, 75013 Paris - France)
- AMU - Aix Marseille Université : U910 (Aix-Marseille Université Jardins du Pharo 58 Boulevard Charles Livon 13284 Marseille cedex 7 - France)
- APHM - Assistance Publique - Hôpitaux de Marseille (Direction générale AP-HM 80, rue Brochier 13 354 Marseille Cedex 5 - France)
- TIMONE - Hôpital de la Timone [CHU - APHM] (France)
- CNRS - Centre National de la Recherche Scientifique : U910 (France)
4
Yale University School of Medicine (Yale University School of Medicine, New Haven, Connecticut - United States)
5
MBNI - Molecular and Behavioral Neuroscience Institute (United States)
- University of Michigan [Ann Arbor] (500 Church Street Ann Arbor, MI 48109-1090 - United States)
- University of Michigan System (Michigan - United States)
6
LPC - Laboratoire de psychologie cognitive (Pôle 3 C, Case D 3 place Victor Hugo 13331 Marseille Cedex 3 - France)
- CNRS - Centre National de la Recherche Scientifique : UMR7290 / UMR6146 / FRE2071 (France)
- AMU - Aix Marseille Université : UMR7290 / UMR6146 / FRE2071 (Aix-Marseille Université Jardins du Pharo 58 Boulevard Charles Livon 13284 Marseille cedex 7 - France)
7
Karolinska University Hospital [Stockholm] (Huddinge
141 86 Stockholm - Sweden)
8
Washington University School of Medicine in St. Louis (660 S. Euclid Ave., St. Louis, MO 63110 - United States)
- Washington University in St Louis (Washington University in St. Louis, One Brookings Drive, St. Louis, MO 63130 - United States)
9
Hôpital Jeanne de Flandres (avenue Eugène Avinée 59037 Lille - France)
- Université de Lille, Droit et Santé (42 rue Paul Duez 59000 Lille - France)
- CHRU Lille - Centre Hospitalier Régional Universitaire [Lille] (2, avenue Oscar Lambret - 59037 Lille Cedex - France)
10
Hôpital Roger Salengro [Lille] (France)
11
Hôpital Saint Vincent de Paul de Lille (Hôpital Saint Vincent de Paul
Boulevard de Belfort - BP 387
59020 Lille Cedex - France)
12
University of Manchester [Manchester] (Oxford Rd, Manchester M13 9PL - United Kingdom)
13
UCL - University College of London [London] (Gower Street, London WC1E 6BT - United Kingdom)
14
IGF MGX - Institut de Génomique Fonctionnelle - Montpellier GenomiX (141, rue de la Cardonille - 34094 Montpellier Cedex 5 - France)
- IGF - Institut de Génomique Fonctionnelle (141, Rue de la Cardonille 34094 Montpellier cedex 5 - France)
- UM - Université de Montpellier (163 rue Auguste Broussonnet - 34090 Montpellier - France)
- UM1 - Université Montpellier 1 (5, boulevard Henri IV - CS 19044 - 34967 Montpellier cedex - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1191 (101, rue de Tolbiac, 75013 Paris - France)
- UM2 - Université Montpellier 2 - Sciences et Techniques (Place Eugène Bataillon - 34095 Montpellier cedex 5 - France)
- CNRS - Centre National de la Recherche Scientifique : UMR5203 (France)
15
Charité - UniversitätsMedizin = Charité - University Hospital [Berlin] (Charitéplatz 1,
10117 Berlin - Germany)
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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Journal articles
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https://hal.archives-ouvertes.fr/hal-01432295
Contributor : Jean-Baptiste Melmi Connect in order to contact the contributor
Submitted on : Wednesday, January 11, 2017 - 4:34:00 PM
Last modification on : Wednesday, November 3, 2021 - 6:15:24 AM
Contributor : Jean-Baptiste Melmi Connect in order to contact the contributor
Submitted on : Wednesday, January 11, 2017 - 4:34:00 PM
Last modification on : Wednesday, November 3, 2021 - 6:15:24 AM
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- HAL Id : hal-01432295, version 1
- DOI : 10.1038/ng.3681
Citation
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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