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  1. 0 資料タイプ別
  2. 02 学位論文
  1. 250 大学院医歯学総合研究科(医)
  2. 60 博士学位論文
  3. 10 博士学位論文

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis

http://hdl.handle.net/10191/50427
http://hdl.handle.net/10191/50427
d14998d1-9fac-41ce-8bb2-2f5a3c76d27e
名前 / ファイル ライセンス アクション
h29nmk798.pdf 本文 (1.5 MB)
h29nmk798_a.pdf 要旨 (676.1 kB)
Item type 学位論文 / Thesis or Dissertation(1)
公開日 2018-07-26
タイトル
タイトル Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis
タイトル
言語 en
タイトル Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis
言語
言語 eng
資源タイプ
資源 http://purl.org/coar/resource_type/c_46ec
タイプ thesis
その他のタイトル
その他のタイトル 常染色体劣性先天性魚鱗癬の新規の疾患原因遺伝子SDR9C7の同定
著者 Shigehara, Yohya

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WEKO 51220

Shigehara, Yohya

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著者別名
識別子 51221
識別子Scheme WEKO
姓名 重原, 庸哉
抄録
内容記述タイプ Abstract
内容記述 Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of hereditary skin disorder characterized by an aberrant cornification of the epidermis. ARCI is classified into a total of 11 subtypes (ARCI1-ARCI11) based on their causative genes or loci. Of these, the causative gene for only ARCI7 has not been identified, while it was previously mapped on chromosome 12p11.2-q13.1. In this study, we performed genetic analyses for three Lebanese families with ARCI, and successfully determined the linkage interval to 9.47Mb region on chromosome 12q13.13-q14.1, which was unexpectedly outside of the ARCI7 locus. Whole-exome sequencing and the subsequent Sanger sequencing led to the identification of missense mutations in short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7) gene on chromosome 12q13.3, i.e. two families shared an identical homozygous mutation c.599T>C (p.Ile200Thr) and one family had another homozygous mutation c.214C>T (p.Arg72Trp). In cultured cells, expression of both the mutant SDR9C7 proteins was markedly reduced as compared to wild-type protein, suggesting that the mutations severely affected a stability of the protein. In normal human skin, the SDR9C7 was abundantly expressed in granular and cornified layers of the epidermis. By contrast, in a patient’s skin, its expression in the cornified layer was significantly decreased. It has previously been reported that SDR9C7 is an enzyme to convert retinal into retinol. Therefore, our study not only adds a new gene responsible for ARCI, but also further suggests a potential role of vitamin A metabolismin terminal differentiation of the epidermis in humans.
内容記述
内容記述タイプ Other
内容記述 学位の種類: 博士(医学). 報告番号: 甲第4399号. 学位記番号: 新大院博(医)甲第798号. 学位授与年月日: 平成30年3月23日
内容記述
内容記述タイプ Other
内容記述 Human Molecular Genetics. 2016. 25(20), 4484-4493.
書誌情報 発行日 2018-03-23
出版者
出版者 新潟大学
DOI
識別子タイプ DOI
関連識別子 info:doi/10.1093/hmg/ddw277
著者版フラグ
値 ETD
学位名
学位名 博士(医学)
学位授与機関
学位授与機関名 新潟大学
学位授与年月日
学位授与年月日 2018-03-23
学位授与番号
学位授与番号 13101甲第4399号
学位記番号
内容記述タイプ Other
内容記述 新大院博(医)甲第798号
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