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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\u003eA (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\u003eA allele in the patient\u0027s 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. 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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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本文 (2.3 MB)
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要旨 (214.1 kB)
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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 |