論文 - 詳細
| RRC ID | 37599 |
|---|---|
| 著者 | Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, Yamamoto T. |
| タイトル | CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. |
| ジャーナル | Genomics |
| Abstract |
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. |
| 巻・号 | 106(4) |
| ページ | 196-203 |
| 公開日 | 2015-10-1 |
| DOI | 10.1016/j.ygeno.2015.07.001 |
| PII | S0888-7543(15)30015-X |
| PMID | 26188257 |
| MeSH | 1-Alkyl-2-acetylglycerophosphocholine Esterase / genetics Brain / embryology Brain / metabolism Cell Differentiation DNA-Binding Proteins Down-Regulation Female Gene Deletion Humans Induced Pluripotent Stem Cells / metabolism* Induced Pluripotent Stem Cells / pathology Infant Lissencephaly / genetics Lissencephaly / metabolism Lissencephaly / pathology* Male Microtubule-Associated Proteins / genetics Mitochondrial Proteins / genetics* Mitochondrial Proteins / metabolism* Mutation, Missense Neurons / metabolism* Neurons / pathology Transcription Factors / genetics* Transcription Factors / metabolism* Tubulin / genetics |
| IF | 6.205 |
| 引用数 | 6 |
| WOS 分野 | BIOTECHNOLOGY & APPLIED MICROBIOLOGY GENETICS & HEREDITY |
| リソース情報 | |
| ヒト・動物細胞 | 201B7(HPS0063) |