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  1. 0 資料タイプ別
  2. 03 紀要論文
  1. 250 大学院医歯学総合研究科(医)
  2. 20 紀要
  3. 02 新潟医学会雑誌
  4. 第110巻第11号

歯状核赤核・淡蒼球ルイ体萎縮症(Dentatorubral-Pallidoluysian Atrophy : DRPLA)遺伝子周辺のゲノム構造及び発現遺伝子の同定

http://hdl.handle.net/10191/43491
http://hdl.handle.net/10191/43491
e1e03fce-fe51-4490-aff9-bf705b59c6e1
名前 / ファイル ライセンス アクション
110(11)_518-527.pdf 110(11)_518-527.pdf (4.5 MB)
Item type 紀要論文 / Departmental Bulletin Paper(1)
公開日 2016-08-30
タイトル
タイトル 歯状核赤核・淡蒼球ルイ体萎縮症(Dentatorubral-Pallidoluysian Atrophy : DRPLA)遺伝子周辺のゲノム構造及び発現遺伝子の同定
タイトル
言語 en
タイトル 歯状核赤核・淡蒼球ルイ体萎縮症(Dentatorubral-Pallidoluysian Atrophy : DRPLA)遺伝子周辺のゲノム構造及び発現遺伝子の同定
言語
言語 jpn
キーワード
主題Scheme Other
主題 Dentatorubral-pallidoluysian atrophy (DRPLA)
キーワード
主題Scheme Other
主題 Neuronspecific enolase (NSE)
キーワード
主題Scheme Other
主題 physical map
キーワード
主題Scheme Other
主題 Northern hybridization
キーワード
主題Scheme Other
主題 歯状核赤核・淡蒼球ルイ体萎縮症
キーワード
主題Scheme Other
主題 エノラーゼ
キーワード
主題Scheme Other
主題 物理地図
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ departmental bulletin paper
その他のタイトル
その他のタイトル Genomic Structure and Identification of Expression Genes Flanking the Gene for Dentatorubral-Pallidoluysian Atrophy (DRPLA)
著者 石田, 義則

× 石田, 義則

WEKO 111833

石田, 義則

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著者別名
識別子 111834
識別子Scheme WEKO
姓名 Ishida, Yoshinori
抄録
内容記述タイプ Abstract
内容記述 Expansion of CAG repeat has been established as a new disease mechanism for hereditary neurodegenerative diseases. The mechanism of neurodegeneration caused by the expanded CAG repeat, however, remains unknown. An intriguing possibility is a positional effect caused by the expanded CAG repeat affecting the expression of the adjacent genes. To elucidate whether such positional effect is involved in the mechanisms of neurodegeneration, we performed detailed structural analysis of the genomic region flanking the gene for dentatorubral-pallidoluysian atrophy(DRPLA), an autosomal dominant neurodegenerative disorder caused by unstable expansion of CAG repeat on 12p13.31. We constructed a cosmid genomic library using genomic DNA of a DRPLA patient containing the largely expanded CAG repeat(79 repeat units), and cloned the genomic DNA containing the mutant DRPLA gene(DRPLA 18E). By screening a human brain frontal cortex cDNA library using the fragments of the genomic clone as the probes, we isolated 18 independent cDNA clones. By detailed nucleotide sequence analysis of these cDNA clones, we identified 3 genes in addition to the DRPLA gene. Of the 3 genes, one gene codes for neuron-specific enolase(NSE)and the others are a novel gene and a novel mRNA for DRPLA. The NSE gene was found to be located approxirnately 5 kb upstream of the DRPLA gene, and the novel gene was located upstream of the NSE gene.
書誌情報 新潟医学会雑誌
en : 新潟医学会雑誌

巻 110, 号 11, p. 518-527, 発行日 1996-11
出版者
出版者 新潟医学会
ISSN
収録物識別子タイプ ISSN
収録物識別子 00290440
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AN00182415
著者版フラグ
値 publisher
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