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Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis : Establishment of a useful assay system for LPA_6.
http://hdl.handle.net/10191/47590
http://hdl.handle.net/10191/4759030e7f29a-aaab-4f69-a659-20f18e89599a
名前 / ファイル | ライセンス | アクション |
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2018-09-11 | |||||
タイトル | ||||||
タイトル | Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis : Establishment of a useful assay system for LPA_6. | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis : Establishment of a useful assay system for LPA_6. | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Hypotrichosis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | LIPH | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | LPA(6) | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | LPAR6 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Woolly hair | |||||
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 | 常染色体劣性縮毛症/乏毛症の日本人家系で同定されたLPAR6遺伝子変異の解析 : 有用なLPA_6アッセイ系の確立 | |||||
著者 |
Hayashi, Ryota
× Hayashi, Ryota |
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著者別名 | ||||||
識別子 | 50977 | |||||
識別子Scheme | WEKO | |||||
姓名 | 林, 良太 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | BACKGROUND:Woolly hair (WH) is a hair shaft anomaly characterized by tightly-curled hair and is frequently associated with hypotrichosis. Non-syndromic forms of WH can show either autosomal dominant or recessive inheritance. The autosomal recessive form of WH (ARWH) is caused by mutations in either lipase H (LIPH) or lysophosphatidic acid receptor 6 (LPAR6) gene, encoding an LPA-producing enzyme PA-PLA1α and an LPA receptor LPA6, respectively. OBJECTIVE:To define the molecular basis of ARWH/hypotrichosis in a Japanese family.\nMETHODS:We performed mutational analysis of candidate genes and a series of expression and in vitro functional analyses, which we improved in this study, to determine the consequences resulting from the mutations identified in the family.\nRESULTS:Novel compound heterozygous LPAR6 mutations were identified in the patient. One was a nonsense mutation c.756T>A (p.Tyr252*); the other was a large insertion mutation within the promoter region of LPAR6. Expression studies detected LPAR6 mRNA only from the c.756T>A allele in the patient's hair follicles, suggesting that the insertion in the other allele disrupted the LPAR6 promoter and thus led to a failure of transcription. Furthermore, an improved LPA6 functional assay developed in this study demonstrated aberrant expression and a subsequent loss of function of the p.Tyr252*-mutant protein. CONCLUSION:Through establishing a useful assay system for LPA6, our results further underscore the crucial roles of LPAR6 in hair follicle development and hair growth in humans at molecular levels. | |||||
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4259号. 学位記番号: 新大院博(医)甲第737号. 学位授与年月日: 平成29年3月23日 | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Journal of Dermatological Science78(3) 197–205 | |||||
書誌情報 | 発行日 2017-03-23 | |||||
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/10.1016/j.jdermsci.2015.03.006 | |||||
権利 | ||||||
権利情報 | Copyright © 2015 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved | |||||
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 | 2017-03-23 | |||||
学位授与番号 | ||||||
学位授与番号 | 13101甲第4259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737号 |