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Neurodevelopmental Disorders

開催日 2014/9/13
時間 11:00 - 12:00
会場 Poster / Exhibition(Event Hall B)

Funcitonal analyses of the CDKL5, a causative gene for neurodevelopemental disorders

  • P3-321
  • 田中 輝幸 / Teruyuki Tanaka:1 渡邉 紀 / Aya Watanabe:1 萩原 舞 / Mai Hagiwara:1 村上 拓冬 / Takuto Murakami:1 小林 静香 / Shizuka Kobayashi:2 真鍋 俊也 / Toshiya Manabe:2 高雄 啓三 / Keizo Takao:3 宮川 剛 / Tsuyoshi Miyakawa:3 深谷 昌弘 / Masahiro Fukaya:4 阪上 洋行 / Hiroyuki Sakagami:4 水口 雅 / Masashi Mizuguchi:1 奥田 耕助 / Kosuke Okuda:1 
  • 1:東京大学 / Grad.Sch. of Med., The Univ. of Tokyo, Tokyo, Japan 2:東京大学医科学研究所 神経ネットワーク分野 / Division of Neuronal Network, Dept. of Basic Medical Sciences, The Univ. of Tokyo, Tokyo, Japan 3:自然科学研究機構 生理学研究所 行動・代謝分子解析センター / Center for Genetic Analysis of Behavior, National Institute for Physiological Sciences 4:北里大学医学部 解剖学教室 / Dept. of Anatomy, Kitasato Univ. School of Medicine, Sagamihara, Japan 

The Cyclin-dependent kinase-like 5 (CDKL5) gene encodes for a serine-threonine kinase sharing homology to Mitogen-activated kinases (MAPKs) and Cyclin-dependent kinases (CDKs). Recently, mutations in the CDKL5 gene have been identified in the patients with neurodevelopmental disorders associated with epilepsies, such as West syndrome or atypical Rett syndrome, suggesting its critical role in neurodevelopment. However, neither its molecular functions or pathomechanisms caused by its mutations are largely unknown. Aiming to elucidate these problems, we have taken multidimensional strategies, combining an unbiased interactome approach and a targeted loss-of-function (LOF) approach. For the interactome approach, we performed the yeast two-hybrid screening and identified several CDKL5 interacting proteins. For the LOF approach, we have generated the Cdkl5 knockout mouse and analyzed the neurological phenotypes. The combination of these approaches suggested us possible mechanisms of CDKL5 regulating neural functions during development.

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