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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/10191/50427d14998d1-9fac-41ce-8bb2-2f5a3c76d27e
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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| 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 | ||||||
| タイトル | Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis | |||||
| 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_46ec | |||||
| 資源タイプ | 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
× Shigehara, Yohya |
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| 著者別名 | ||||||
| 識別子Scheme | WEKO | |||||
| 識別子 | 51221 | |||||
| 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. | |||||
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| 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 | |||||
