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Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants

Author

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  • Tetsushi Sadakata

    (Advanced Scientific Research Leaders Development Unit, Gunma University, Maebashi, Gunma 371-8511, Japan
    JST-CREST, Kawaguchi, Saitama 332-0012, Japan
    These authors contributed equally to this work.)

  • Yo Shinoda

    (JST-CREST, Kawaguchi, Saitama 332-0012, Japan
    Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan
    These authors contributed equally to this work.)

  • Akira Sato

    (Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan)

  • Hirotoshi Iguchi

    (Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan)

  • Chiaki Ishii

    (Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan)

  • Makoto Matsuo

    (Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan)

  • Ryosuke Yamaga

    (Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan)

  • Teiichi Furuichi

    (JST-CREST, Kawaguchi, Saitama 332-0012, Japan
    Department of Applied Biological Science, Tokyo University of Science, Noda, Chiba 278-8510, Japan)

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by disturbances in interpersonal relationships and behavior. Although the prevalence of autism is high, effective treatments have not yet been identified. Recently, genome-wide association studies have identified many mutations or variations associated with ASD risk on many chromosome loci and genes. Identification of the biological roles of these mutations or variations is necessary to identify the mechanisms underlying ASD pathogenesis and to develop clinical treatments. At present, mice harboring genetic modifications of ASD-associated gene candidates are the best animal models to analyze hereditary factors involved in autism. In this report, the biological significance of ASD-associated genes is discussed by examining the phenotypes of mouse models with ASD-associated mutations or variations in mouse homologs, with a focus on mice harboring genetic modifications of the Caps2 / Cadps2 (Ca 2+ -dependent activator protein for secretion 2) gene.

Suggested Citation

  • Tetsushi Sadakata & Yo Shinoda & Akira Sato & Hirotoshi Iguchi & Chiaki Ishii & Makoto Matsuo & Ryosuke Yamaga & Teiichi Furuichi, 2013. "Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants," IJERPH, MDPI, vol. 10(12), pages 1-19, November.
    • Handle: RePEc:gam:jijerp:v:10:y:2013:i:12:p:6335-6353:d:30798
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    References listed on IDEAS

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    1. Irina Voineagu & Xinchen Wang & Patrick Johnston & Jennifer K. Lowe & Yuan Tian & Steve Horvath & Jonathan Mill & Rita M. Cantor & Benjamin J. Blencowe & Daniel H. Geschwind, 2011. "Transcriptomic analysis of autistic brain reveals convergent molecular pathology," Nature, Nature, vol. 474(7351), pages 380-384, June.
    2. David R. Bentley & Shankar Balasubramanian & Harold P. Swerdlow & Geoffrey P. Smith & John Milton & Clive G. Brown & Kevin P. Hall & Dirk J. Evers & Colin L. Barnes & Helen R. Bignell & Jonathan M. Bo, 2008. "Accurate whole human genome sequencing using reversible terminator chemistry," Nature, Nature, vol. 456(7218), pages 53-59, November.
    3. Hyejung Won & Hye-Ryeon Lee & Heon Yung Gee & Won Mah & Jae-Ick Kim & Jiseok Lee & Seungmin Ha & Changuk Chung & Eun Suk Jung & Yi Sul Cho & Sae-Geun Park & Jung-Soo Lee & Kyungmin Lee & Daesoo Kim & , 2012. "Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function," Nature, Nature, vol. 486(7402), pages 261-265, June.
    4. Brian J. O’Roak & Laura Vives & Santhosh Girirajan & Emre Karakoc & Niklas Krumm & Bradley P. Coe & Roie Levy & Arthur Ko & Choli Lee & Joshua D. Smith & Emily H. Turner & Ian B. Stanaway & Benjamin V, 2012. "Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations," Nature, Nature, vol. 485(7397), pages 246-250, May.
    5. Augustine Kong & Michael L. Frigge & Gisli Masson & Soren Besenbacher & Patrick Sulem & Gisli Magnusson & Sigurjon A. Gudjonsson & Asgeir Sigurdsson & Aslaug Jonasdottir & Adalbjorg Jonasdottir & Wend, 2012. "Rate of de novo mutations and the importance of father’s age to disease risk," Nature, Nature, vol. 488(7412), pages 471-475, August.
    6. Lauren A. Weiss & Dan E. Arking, 2009. "A genome-wide linkage and association scan reveals novel loci for autism," Nature, Nature, vol. 461(7265), pages 802-808, October.
    7. Edwin H. Cook Jr & Stephen W. Scherer, 2008. "Copy-number variations associated with neuropsychiatric conditions," Nature, Nature, vol. 455(7215), pages 919-923, October.
    8. João Peça & Cátia Feliciano & Jonathan T. Ting & Wenting Wang & Michael F. Wells & Talaignair N. Venkatraman & Christopher D. Lascola & Zhanyan Fu & Guoping Feng, 2011. "Shank3 mutant mice display autistic-like behaviours and striatal dysfunction," Nature, Nature, vol. 472(7344), pages 437-442, April.
    9. Dalila Pinto & Alistair T. Pagnamenta & Lambertus Klei & Richard Anney & Daniele Merico & Regina Regan & Judith Conroy & Tiago R. Magalhaes & Catarina Correia & Brett S. Abrahams & Joana Almeida & Ele, 2010. "Functional impact of global rare copy number variation in autism spectrum disorders," Nature, Nature, vol. 466(7304), pages 368-372, July.
    10. Benjamin M. Neale & Yan Kou & Li Liu & Avi Ma’ayan & Kaitlin E. Samocha & Aniko Sabo & Chiao-Feng Lin & Christine Stevens & Li-San Wang & Vladimir Makarov & Paz Polak & Seungtai Yoon & Jared Maguire &, 2012. "Patterns and rates of exonic de novo mutations in autism spectrum disorders," Nature, Nature, vol. 485(7397), pages 242-245, May.
    11. Duo Jin & Hong-Xiang Liu & Hirokazu Hirai & Takashi Torashima & Taku Nagai & Olga Lopatina & Natalia A. Shnayder & Kiyofumi Yamada & Mami Noda & Toshihiro Seike & Kyota Fujita & Shin Takasawa & Shiger, 2007. "CD38 is critical for social behaviour by regulating oxytocin secretion," Nature, Nature, vol. 446(7131), pages 41-45, March.
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