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  1. 原著論文

iPS cell generation-associated point mutations include many C?>?T substitutions via different cytosine modification mechanisms.

https://repo.qst.go.jp/records/2001308
https://repo.qst.go.jp/records/2001308
b61d73a0-2fcd-46c2-a19d-d29e896b2640
アイテムタイプ 学術雑誌論文 / Journal Article(1)
公開日 2024-09-05
タイトル
タイトル iPS cell generation-associated point mutations include many C?>?T substitutions via different cytosine modification mechanisms.
言語 en
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
著者 Ryoko Araki

× Ryoko Araki

Ryoko Araki

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Tomo Suga

× Tomo Suga

Tomo Suga

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Yuko Hoki

× Yuko Hoki

Yuko Hoki

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Kaori Imadome

× Kaori Imadome

Kaori Imadome

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Misato Sunayama

× Misato Sunayama

Misato Sunayama

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Satoshi Kamimura

× Satoshi Kamimura

Satoshi Kamimura

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Mayumi Fujita

× Mayumi Fujita

Mayumi Fujita

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Masumi Abe

× Masumi Abe

Masumi Abe

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抄録
内容記述タイプ Abstract
内容記述 Genomic aberrations are a critical impediment for the safe medical use of iPSCs and their origin and developmental mechanisms remain?unknown. Here we find through WGS analysis of human and mouse iPSC lines that genomic mutations are de novo events and that, in addition to unmodified cytosine base prone to deamination, the DNA methylation sequence CpG represents a significant mutation-prone site. CGI and TSS regions show increased mutations in iPSCs and elevated mutations are observed in retrotransposons, especially in the AluY subfamily. Furthermore, increased cytosine to thymine mutations are observed in differentially methylated regions. These results indicate that in addition to deamination of cytosine, demethylation of methylated cytosine, which plays a central role in genome reprogramming, may act mutagenically during iPSC generation.
書誌情報 Nature communications

巻 15, 号 1, p. 4946, 発行日 2024-06
ISSN
収録物識別子タイプ ISSN
収録物識別子 2041-1723
PubMed番号
識別子タイプ PMID
関連識別子 38862540
DOI
識別子タイプ DOI
関連識別子 10.1038/s41467-024-49335-5
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