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Hotspots of De Novo Point Mutations in Induced Pluripotent Stem Cells
https://repo.qst.go.jp/records/48804
https://repo.qst.go.jp/records/48804a846593f-f767-4299-a169-08bca4f8ebde
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2018-04-24 | |||||
| タイトル | ||||||
| タイトル | Hotspots of De Novo Point Mutations in Induced Pluripotent Stem Cells | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| アクセス権 | ||||||
| アクセス権 | metadata only access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
| 著者 |
Yoshihara, Masahito
× Yoshihara, Masahito× Araki, Ryoko× Kasama, Yasuji× Sunayama, Misato× Abe, Masumi× Nishida, Kohji× Kawaji, Hideya× Hayashizaki, Yoshihide× Murakawa, Yasuhiro× 荒木 良子× 笠間 康次× 砂山 美里× 安倍 真澄 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Induced pluripotent stem cells (iPSCs) are generated by direct reprogramming of somatic cells and hold great promise for novel therapies. However, several studies have reported genetic variations in iPSC genomes. Here, we investigated point mutations identified by whole-genome sequencing in mouse and human iPSCs in the context of epigenetic status. In contrast to disease-causing single-nucleotide polymorphisms, de novo point mutations introduced during reprogramming were underrepresented in protein-coding genes and in open chromatin regions, including transcription factor binding sites. Instead, these mutations occurred preferentially in structurally condensed lamina-associated heterochromatic domains, suggesting that chromatin organization is a factor that can bias the regional mutation rate in iPSC genomes. Mutation signature analysis implicated oxidative stress associated with reprogramming as a likely cause of point mutations. Altogether, our study provides deeper understanding of the mutational landscape of iPSC genomes, paving an important way toward the translation of iPSC-based cell therapy | |||||
| 書誌情報 |
Cell reports 巻 21, 号 2, p. 308-315, 発行日 2017-10 |
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| 出版者 | ||||||
| 出版者 | Cell Press | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 2211-1247 | |||||
| PubMed番号 | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | 29020618 | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1016/j.celrep.2017.09.060 | |||||
| 関連サイト | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.sciencedirect.com/science/article/pii/S2211124717313505 | |||||
| 関連名称 | http://www.sciencedirect.com/science/article/pii/S2211124717313505 | |||||
