2015年1月
Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders
JOURNAL OF NEUROCHEMISTRY
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- 巻
- 132
- 号
- 1
- 開始ページ
- 61
- 終了ページ
- 69
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1111/jnc.12943
- 出版者・発行元
- WILEY-BLACKWELL
Using comparative genomic hybridization analysis for an autism spectrum disorder (ASD) patient, a 73-Kb duplication at 19q13.33 (nt. 49562755-49635956) including LIN7B and 5 other genes was detected. We then identified a novel frameshift mutation in LIN7B in another ASD patient. Since LIN7B encodes a scaffold protein essential for neuronal function, we analyzed the role of Lin-7B in the development of cerebral cortex. Acute knockdown of Lin-7B with in utero electroporation caused a delay in neuronal migration during corticogenesis. When Lin-7B was knocked down in cortical neurons in one hemisphere, their axons failed to extend efficiently into the contralateral hemisphere after leaving the corpus callosum. Meanwhile, enhanced expression of Lin-7B had no effects on both cortical neuron migration and axon growth. Notably, silencing of Lin-7B did not affect the proliferation of neuronal progenitors and stem cells. Taken together, Lin-7B was found to play a pivotal role in corticogenesis through the regulation of excitatory neuron migration and interhemispheric axon growth, while further analyses are required to directly link functional defects of Lin-7B to ASD pathophysiology.
- リンク情報
- ID情報
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- DOI : 10.1111/jnc.12943
- ISSN : 0022-3042
- eISSN : 1471-4159
- PubMed ID : 25196215
- Web of Science ID : WOS:000346492300007