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  1. 学位論文
  2. 博士論文
  3. 医学研究科
  1. 部局別インデックス
  2. 医学研究科

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/20.500.12000/36588
551e3686-4356-4a4b-ab2d-24f5fb6bbd29
名前 / ファイル ライセンス アクション
iken458table_4.pdf iken458table_4.pdf
iken458table_3.pdf iken458table_3.pdf
iken458table_2.pdf iken458table_2.pdf
iken458table_1.pdf iken458table_1.pdf
iken458figure.pdf iken458figure.pdf
iken458text.pdf iken458text.pdf
iken458review.pdf iken458review.pdf
iken458abstract.pdf iken458abstract.pdf
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

ja 仲里, 秀次

Nakazato, Hidetsugu

× Nakazato, Hidetsugu

en Nakazato, Hidetsugu

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
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
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