Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice

Reut Suliman-Lavie; Ben Title; Yahel Cohen; Nanako Hamada; Maayan Tal; Nitzan Tal; Galya Monderer-Rothkoff; Bjorg Gudmundsdottir; Kristbjorn O. Gudmundsson; Jonathan R. Keller; Guo-Jen Huang; Koh-ichi Nagata; Yosef Yarom; Sagiv Shifman

doi:10.1038/s41467-020-19577-0

Nature Communications (Nov 2020)

Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice

Reut Suliman-Lavie,
Ben Title,
Yahel Cohen,
Nanako Hamada,
Maayan Tal,
Nitzan Tal,
Galya Monderer-Rothkoff,
Bjorg Gudmundsdottir,
Kristbjorn O. Gudmundsson,
Jonathan R. Keller,
Guo-Jen Huang,
Koh-ichi Nagata,
Yosef Yarom,
Sagiv Shifman

Affiliations

Reut Suliman-Lavie: Department of Genetics, The Institute of Life Sciences, The Hebrew University of Jerusalem
Ben Title: Department of Neurobiology, The Institute of Life Sciences and Edmond & Lily Safra Center for Brain Sciences (ELSC), The Hebrew University of Jerusalem
Yahel Cohen: Department of Genetics, The Institute of Life Sciences, The Hebrew University of Jerusalem
Nanako Hamada: Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center
Maayan Tal: Department of Genetics, The Institute of Life Sciences, The Hebrew University of Jerusalem
Nitzan Tal: Department of Genetics, The Institute of Life Sciences, The Hebrew University of Jerusalem
Galya Monderer-Rothkoff: Department of Genetics, The Institute of Life Sciences, The Hebrew University of Jerusalem
Bjorg Gudmundsdottir: Cellular and Molecular Therapeutics Branch, National Heart Lung and Blood Institutes (NHLBI)/National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH)
Kristbjorn O. Gudmundsson: Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute at Frederick
Jonathan R. Keller: Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute at Frederick
Guo-Jen Huang: Department and Graduate Institute of Biomedical Sciences, College of Medicine, Chang Gung University
Koh-ichi Nagata: Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center
Yosef Yarom: Department of Neurobiology, The Institute of Life Sciences and Edmond & Lily Safra Center for Brain Sciences (ELSC), The Hebrew University of Jerusalem
Sagiv Shifman: Department of Genetics, The Institute of Life Sciences, The Hebrew University of Jerusalem

DOI: https://doi.org/10.1038/s41467-020-19577-0
Journal volume & issue: Vol. 11, no. 1
pp. 1 – 15

Abstract

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POGZ is an autism spectrum disorder risk gene. How POGZ mutations result in ASD is unclear and animal models are lacking. Here, the authors generate a brain specific Pogz deficient mouse presenting ASD-like behaviour and show the effects of Pogz deficiency in the cerebellum.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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