WEKO3
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However, its somatic mutations and aberrant methylation in esophageal squamous cell carcinomas (ESCCs) have not been fully analyzed. In this study, we aimed to clarify in ESCC, what components of the SWI/SNF complex have somatic mutations and aberrant methylation, and when somatic mutations of the SWI/SNF complex occur. Deep sequencing of components of the SWI/SNF complex using a bench-top next Generation sequencer revealed that eight of 92 ESCCs (8.7%) had 11 somatic mutations of 7 genes, ARID1A, ARID2, ATRX, PBRM1, SMARCA4, SMARCAL1, and SMARCC1. The\u003cbr/\u003eSMARCA4 mutations were located in the Forkhead (85Ser\u003eLeu) and SNF2 family\u003cbr/\u003eN-terminal (882Glu\u003eLys) domains. The PBRM1 mutations were located in a bromodomain\u003cbr/\u003e(80Asn\u003eSer) and an HMG-box domain (1,377Glu\u003eLys). 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SIW/SNF遺伝子異常の食道扁平上皮がん発がんの早期における誘発
http://hdl.handle.net/20.500.12000/36588
http://hdl.handle.net/20.500.12000/36588551e3686-4356-4a4b-ab2d-24f5fb6bbd29
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iken458table_4.pdf
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iken458table_1.pdf
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iken458figure.pdf
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iken458text.pdf
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iken458review.pdf
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iken458abstract.pdf
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| Item type | デフォルトアイテムタイプ（フル）(1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| 公開日 | 2017-05-11 | |||||||||
| タイトル | ||||||||||
| タイトル | SIW/SNF遺伝子異常の食道扁平上皮がん発がんの早期における誘発 | |||||||||
| 言語 | ja | |||||||||
| 作成者 |
仲里, 秀次
× 仲里, 秀次
× Nakazato, Hidetsugu
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| アクセス権 | ||||||||||
| アクセス権 | open access | |||||||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||||||
| 主題 | ||||||||||
| 言語 | en | |||||||||
| 主題Scheme | Other | |||||||||
| 主題 | Epigenetics | |||||||||
| 言語 | en | |||||||||
| 主題Scheme | Other | |||||||||
| 主題 | SWI/SNF | |||||||||
| 言語 | en | |||||||||
| 主題Scheme | Other | |||||||||
| 主題 | mutation | |||||||||
| 言語 | en | |||||||||
| 主題Scheme | Other | |||||||||
| 主題 | ESCC | |||||||||
| 内容記述 | ||||||||||
| 内容記述タイプ | Other | |||||||||
| 内容記述 | The SWI/SNF chromatin remodeling complex is frequently inactivated by somatic<br/>mutations of its various components in various types of cancers, and also by aberrant DNA methylation. However, its somatic mutations and aberrant methylation in esophageal squamous cell carcinomas (ESCCs) have not been fully analyzed. In this study, we aimed to clarify in ESCC, what components of the SWI/SNF complex have somatic mutations and aberrant methylation, and when somatic mutations of the SWI/SNF complex occur. Deep sequencing of components of the SWI/SNF complex using a bench-top next Generation sequencer revealed that eight of 92 ESCCs (8.7%) had 11 somatic mutations of 7 genes, ARID1A, ARID2, ATRX, PBRM1, SMARCA4, SMARCAL1, and SMARCC1. The<br/>SMARCA4 mutations were located in the Forkhead (85Ser>Leu) and SNF2 family<br/>N-terminal (882Glu>Lys) domains. The PBRM1 mutations were located in a bromodomain<br/>(80Asn>Ser) and an HMG-box domain (1,377Glu>Lys). For most mutations, their Mutant allele frequency was 31-77% (mean 61%) of the fraction of cancer cells in the same samples, indicating that most of the cancer cells in individual ESCC samples had the SWI/SNF mutations on one allele, when present. In addition, a BeadChip array Analysis revealed that a component of the SWI/SNF complex, ACTL6B, had aberrant methylation at its promoter CpG island in 18 of 52 ESCCs (34.6%). These results showed that genetic and epigenetic alterations of the SWI/SNF complex are present in ESCCs, and suggested that genetic alterations are induced at an early stage of esophageal squamous cell carcinogenesis. | |||||||||
| 内容記述タイプ | Other | |||||||||
| 内容記述 | 学位論文 | |||||||||
| 出版者 | ||||||||||
| 言語 | ja | |||||||||
| 出版者 | 琉球大学 | |||||||||
| 言語 | ||||||||||
| 言語 | eng | |||||||||
| 資源タイプ | ||||||||||
| 資源タイプ | doctoral thesis | |||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||||||
| 出版タイプ | ||||||||||
| 出版タイプ | VoR | |||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||
| 識別子 | ||||||||||
| 識別子 | http://hdl.handle.net/20.500.12000/36588 | |||||||||
| 識別子タイプ | HDL | |||||||||
| 関連情報 | ||||||||||
| 関連識別子 | ||||||||||
| 識別子タイプ | DOI | |||||||||
| 関連識別子 | https://doi.org/10.1371/journal.pone.0147372 | |||||||||
| 書誌情報 |
p. none, 発行日 2017-01-26 |
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| 学位授与番号 | ||||||||||
| 学位授与番号 | 甲第458号 | |||||||||
| 学位名 | ||||||||||
| 学位名 | 博士(医学) | |||||||||
| 言語 | ja | |||||||||
| 学位授与年月日 | ||||||||||
| 学位授与年月日 | 2017-03-24 | |||||||||
| 学位授与機関 | ||||||||||
| 学位授与機関識別子 | ||||||||||
| 学位授与機関識別子 | 18001 | |||||||||
| 学位授与機関識別子Scheme | kakenhi | |||||||||
| 学位授与機関名 | ||||||||||
| 学位授与機関名 | 琉球大学 | |||||||||
| 言語 | ja | |||||||||
