精神保健研究所 精神疾患病態研究部。私たちは「脳とこころの科学」の先駆的研究活動を展開しています。

自閉スペクトラム症:ゲノム/生体試料

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  • 自閉スペクトラム症:ゲノム/生体試料

自閉スペクトラム症のゲノムサンプルを豊富に保有しており、いくつかの成果を上げています。特に日本で初めて自閉スペクトラム症の30トリオのエクソームシークエンス解析を行い、De novo(新規)の変異を発見しました。また、その変異の機能も同定し、動物モデルなどにおける検証に進んでいます。

  1. Ohi K, Kikuchi M, Ikeda M, Yamamori H, Yasuda Y, Fujimoto M, Fujino H, Miura K, Fukunaga M, Nakaya A, Iwata N, *Hashimoto R. Polygenetic Components for Schizophrenia, Bipolar Disorder and Rheumatoid Arthritis Predict Risk of Schizophrenia. Schizophr Res, 175:226-229, 2016.8
  2. Matsumura K, Nakazawa T, Nagayasu K, Gotoda-Nishimura N, Kasai A, Hayata-Takano A, Shintani N, Yamamori H, Yasuda Y, Hashimoto R, Hashimoto H. De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ. J Mol Psychiatry, 4:1, 2016.4
  3. *Hashimoto R, Nakazawa T, Tsurusaki Y, Yasuda Y, Nagayasu K, Matsumura K, Kawashima H, Yamamori H, Fujimoto M, Ohi K, Umeda-Yano S, Fukunaga M, Fujino H, Kasai A, Hayata-Takano A, Shintani N, Takeda M, Matsumoto N, Hashimoto H. Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. J Hum Genet, 61(3):199-206 , 2016.3
  4. Iwata R, Ohi K, Kobayashi Y, Masuda A, Masuda A, Iwama M, Yasuda Y, Yamamori H, Tanaka M, Hashimoto R, Itohara S, Iwasato T. RacGAP α2-chimaerin function in development adjusts cognitive ability in adulthood. Cell Rep, 8(5):1257-64, 2014.8
  5. Yasuda Y, *Hashimoto R, Yamamori H, Ohi K, Fukumoto M, Umeda-Yano S, Mohri I, Ito A, Taniike M, Takeda M. Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder. Mol Autism, 2(1):9, 2011.5
  6. Munesue T, Yokoyama S, Nakamura K, Anitha A, Yamada K, Hayashi K, Asaka T, Liu HX, Jin D, Koizumi K, Islam MS, Huang JJ, Ma WJ, Kim UH, Kim SJ, Park K, Kim D, Kikuchi M, Ono Y, Nakatani H, Suda S, Miyachi T, Hirai H, Salmina A, Pichugina YA, Soumarokov AA, Takei N, Mori N, Tsujii M, Sugiyama T, Yagi K, Yamagishi M, Sasaki T, Yamasue H, Kato N, Hashimoto R, Taniike M, Hayashi Y, Hamada J, Suzuki S, Ooi A, Noda M, Kamiyama Y, Kido MA, Lopatina O, Hashii M, Amina S, Malavasi F, Huang EJ, Zhang J, Shimizu N, Yoshikawa T, Matsushima A, Minabe Y, Higashida H. Two genetic variants of CD38 in subjects with autism spectrum disorder and controls. Neurosci Res, 67:181-191, 2010.4
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