IDEAS home Printed from https://ideas.repec.org/a/gam/jijerp/v10y2013i12p6335-6353d30798.html
   My bibliography  Save this article

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

Author

Listed:
  • 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
    as

    Download full text from publisher

    File URL: https://www.mdpi.com/1660-4601/10/12/6335/pdf
    Download Restriction: no
    File URL: https://www.mdpi.com/1660-4601/10/12/6335/
    Download Restriction: no
    ---><---

    References listed on IDEAS

    as
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    11. Edwin H. Cook Jr & Stephen W. Scherer, 2008. "Copy-number variations associated with neuropsychiatric conditions," Nature, Nature, vol. 455(7215), pages 919-923, October.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Idan Menashe & Pascal Grange & Eric C Larsen & Sharmila Banerjee-Basu & Partha P Mitra, 2013. "Co-expression Profiling of Autism Genes in the Mouse Brain," PLOS Computational Biology, Public Library of Science, vol. 9(7), pages 1-10, July.
    2. Sheng Wang & Belinda Wang & Vanessa Drury & Sam Drake & Nawei Sun & Hasan Alkhairo & Juan Arbelaez & Clif Duhn & Vanessa H. Bal & Kate Langley & Joanna Martin & Pieter J. Hoekstra & Andrea Dietrich & , 2023. "Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
    3. Srirangan Sampath & Shambu Bhat & Simone Gupta & Ashley O’Connor & Andrew B West & Dan E Arking & Aravinda Chakravarti, 2013. "Defining the Contribution of CNTNAP2 to Autism Susceptibility," PLOS ONE, Public Library of Science, vol. 8(10), pages 1-1, October.
    4. Noor B. Almandil & Deem N. Alkuroud & Sayed AbdulAzeez & Abdulla AlSulaiman & Abdelhamid Elaissari & J. Francis Borgio, 2019. "Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies," IJERPH, MDPI, vol. 16(4), pages 1-16, February.
    5. Dang Ton Nguyen & Hai Ha Nguyen & Thuy Duong Nguyen & Thi Thanh Hoa Nguyen & Kaoru Nakano & Kazuhiro Maejima & Aya Sasaki-Oku & Van Ba Nguyen & Duy Bac Nguyen & Bach Quang Le & Jing Hao Wong & Tatsuhi, 2018. "Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability," IJERPH, MDPI, vol. 15(12), pages 1-11, November.
    6. Li Liu & Aniko Sabo & Benjamin M Neale & Uma Nagaswamy & Christine Stevens & Elaine Lim & Corneliu A Bodea & Donna Muzny & Jeffrey G Reid & Eric Banks & Hillary Coon & Mark DePristo & Huyen Dinh & Tim, 2013. "Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls," PLOS Genetics, Public Library of Science, vol. 9(4), pages 1-15, April.
    7. Zhen Zheng & Tingting Zhu & Yi Qu & Dezhi Mu, 2016. "Blood Glutamate Levels in Autism Spectrum Disorder: A Systematic Review and Meta-Analysis," PLOS ONE, Public Library of Science, vol. 11(7), pages 1-12, July.
    8. Victor Kulikov & Syuan-Ming Guo & Matthew Stone & Allen Goodman & Anne Carpenter & Mark Bathe & Victor Lempitsky, 2019. "DoGNet: A deep architecture for synapse detection in multiplexed fluorescence images," PLOS Computational Biology, Public Library of Science, vol. 15(5), pages 1-20, May.
    9. Fiaz Ahmad Sulehri & Saba Sharif, 2022. "The Impact of Firm Sustainability on Firm Growth: Evidence from USA," Journal of Policy Research (JPR), Research Foundation for Humanity (RFH), vol. 8(2), pages 1-15, August.
    10. Svetlana Frenkel & Charles N Bernstein & Michael Sargent & Qin Kuang & Wenxin Jiang & John Wei & Bhooma Thiruvahindrapuram & Elizabeth Spriggs & Stephen W Scherer & Pingzhao Hu, 2019. "Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease," PLOS ONE, Public Library of Science, vol. 14(6), pages 1-16, June.
    11. Fiona A. Hagenbeek & Jana S. Hirzinger & Sophie Breunig & Susanne Bruins & Dmitry V. Kuznetsov & Kirsten Schut & Veronika V. Odintsova & Dorret I. Boomsma, 2023. "Maximizing the value of twin studies in health and behaviour," Nature Human Behaviour, Nature, vol. 7(6), pages 849-860, June.
    12. Glenn N Saxe & Alexander Statnikov & David Fenyo & Jiwen Ren & Zhiguo Li & Meera Prasad & Dennis Wall & Nora Bergman & Ernestine C Briggs & Constantin Aliferis, 2016. "A Complex Systems Approach to Causal Discovery in Psychiatry," PLOS ONE, Public Library of Science, vol. 11(3), pages 1-20, March.
    13. Benjamin A Samuels & E David Leonardo & Alex Dranovsky & Amanda Williams & Erik Wong & Addie May I Nesbitt & Richard D McCurdy & Rene Hen & Mark Alter, 2014. "Global State Measures of the Dentate Gyrus Gene Expression System Predict Antidepressant-Sensitive Behaviors," PLOS ONE, Public Library of Science, vol. 9(1), pages 1-10, January.
    14. Shujuan Zhao & Kedous Y. Mekbib & Martijn A. Ent & Garrett Allington & Andrew Prendergast & Jocelyn E. Chau & Hannah Smith & John Shohfi & Jack Ocken & Daniel Duran & Charuta G. Furey & Le Thi Hao & P, 2023. "Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations," Nature Communications, Nature, vol. 14(1), pages 1-23, December.
    15. Jörn Bethune & April Kleppe & Søren Besenbacher, 2022. "A method to build extended sequence context models of point mutations and indels," Nature Communications, Nature, vol. 13(1), pages 1-10, December.
    16. Hyoseon Oh & Suho Lee & Yusang Oh & Seongbin Kim & Young Seo Kim & Yeji Yang & Woochul Choi & Ye-Eun Yoo & Heejin Cho & Seungjoon Lee & Esther Yang & Wuhyun Koh & Woojin Won & Ryunhee Kim & C. Justin , 2023. "Kv7/KCNQ potassium channels in cortical hyperexcitability and juvenile seizure-related death in Ank2-mutant mice," Nature Communications, Nature, vol. 14(1), pages 1-20, December.
    17. Jingfen Lan & Ziheng Liao & A. K. Alvi Haque & Qiang Yu & Kun Xie & Yang Guo, 2024. "CNVbd: A Method for Copy Number Variation Detection and Boundary Search," Mathematics, MDPI, vol. 12(3), pages 1-15, January.
    18. Matthew D Shirley & Laurence Frelin & José Soria López & Anne Jedlicka & Amanda Dziedzic & Michelle A Frank-Crawford & Wayne Silverman & Louis Hagopian & Jonathan Pevsner, 2016. "Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior," PLOS ONE, Public Library of Science, vol. 11(3), pages 1-16, March.
    19. Kitty Sherwood & Joseph C. Ward & Ignacio Soriano & Lynn Martin & Archie Campbell & Raheleh Rahbari & Ioannis Kafetzopoulos & Duncan Sproul & Andrew Green & Julian R. Sampson & Alan Donaldson & Kai-Re, 2023. "Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair," Nature Communications, Nature, vol. 14(1), pages 1-10, December.
    20. Wafeeq Abdelaziz, Asmaa & Ibrahim Abdelmageed, Reham, 2021. "An overview of non-genetic intellectual disability among Egyptian children and adolescents," Children and Youth Services Review, Elsevier, vol. 127(C).

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:gam:jijerp:v:10:y:2013:i:12:p:6335-6353:d:30798. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: MDPI Indexing Manager (email available below). General contact details of provider: https://www.mdpi.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.