Study on mechanisms underlying autism spectrum disorders using TBR1-K228E miceTBR1-K228E 돌연변이 생쥐를 이용한 자폐 발병 기전 연구

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Autism spectrum disorder, characterized by impaired social interaction and communication, and stereotyped- and repetitive behaviors, is a neurodevelopmental disorder with strong genetic components. Among many high-risk genes implicated, T-box brain 1 (TBR1) has been reported to be mutated recurrently in patients with ASD. One of the mutations, TBR1-K228E, has been shown to impair subcellular localization of TBR1 protein and abolish the interaction with FOXP2, a transcription factor involved in brain development, in vitro, but impacts of this mutation in vivo have been largely unknown. In this study, we generated mice with TBR1-K228E knock-in mutation and characterized the mice in transcriptome-, protein-, synaptic-, cellular-, behavioral levels to provide an insight for pathophysiological mechanisms of TBR1-K228E mutation in ASD patients. TBR1-K228E mice showed transcriptional dysregulation during cortical development, which led to increased inhibitory synaptic inputs in cortical layer 6 pyramidal neurons, altered distribution of Parvalbumin-positive interneurons in the neocortex, and autism-like behaviors.
Advisors
Kim, Eunjoonresearcher김은준researcher
Description
한국과학기술원 :생명과학과,
Publisher
한국과학기술원
Issue Date
2020
Identifier
325007
Language
eng
Description

학위논문(박사) - 한국과학기술원 : 생명과학과, 2020.2,[iii, 88 p. :]

Keywords

autism spectrum disorder▼aTbr1▼atranscription factor▼acortical development▼aGABAergic neurons▼asynaptic transmission▼asocial and repetitive behavior; 자폐증 스펙트럼 장애▼aTbr1▼a전사인자▼a피질 발생▼aGABA 생산 신경세포▼a시냅스 전달▼a사회적 행동과 반복 행동

URI
http://hdl.handle.net/10203/284168
Link
http://library.kaist.ac.kr/search/detail/view.do?bibCtrlNo=909395&flag=dissertation
Appears in Collection
BS-Theses_Ph.D.(박사논문)
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