ヤマモト　トシユキ   Yamamoto Toshiyuki   山本　俊至    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly.
掲載誌名	正式名：Genomics 略　 称：Genomics ISSNコード：(1089-8646)0888-7543(Linking)
掲載区分	国外
巻・号・頁	106(4),pp.196-203
著者・共著者	Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, Yamamoto T
発行年月	2015/10
概要	The human cerebral cortex is peculiar for a six-layered cellular-sheet structure with convolution, which is a consequence of neuronal migration. Dysfunctions of the pathways contributing to this mechanism typically lead to lissencephaly manifesting smooth brain surfaces. To investigate the unknown mechanism underlying neuronal migration disorders, we generated induced pluripotent stem (iPS) cells from two patients with lissencephaly. Whole gene expression study for iPS cells derived from a patient with a LIS1 deletion showed reduced expression of the coiled-coil-helix-coiled-coil-helix domain containing 2 gene (CHCHD2), which was also confirmed in iPS cells derived from a patient with a TUBA1A mutation. CHCHD2 expression was detected in neuronal cells differentiated from normal iPS cells in a time-dependent manner, as well as in the brain of a fetus at 26-28 week gestational age, suggesting development-dependent expression. Migrating neuronal cells showed CHCHD2 expression, suggesting its functional relevance to neuronal migration.
DOI	10.1016/j.ygeno.2015.07.001
PMID	26188257