TRPV3の遺伝子異常から掌蹠角化症に至る分子機構

2014 Fiscal Year Annual Research Report

• Project/Area Number: 25670497
• Research Institution: Hirosaki University
• Principal Investigator: 澤村 大輔 弘前大学, 医学(系)研究科(研究院), 教授 (60196334)
• Co-Investigator(Kenkyū-buntansha): 会津 隆幸 弘前大学, 医学(系)研究科(研究院), 助教 (00400135) ; 中島 康爾 弘前大学, 医学(系)研究科(研究院), 助教 (70374832)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 遺伝子 / 角化 / 掌蹠 / 温度 / 表皮細胞

Outline of Annual Research Achievements

先天的に掌蹠の過角化をきたす遺伝性掌蹠角化症は数多くあり，その原因遺伝子がいまだ不明なものや遺伝子異常から掌蹠の過角化至る機序が不明のものも少なくない．近年, 申請者のグループは遺伝性掌蹠角化症の研究を精力的に行ってきた。オルムステット病は，脱毛，口囲や肛囲の角化性紅斑，激痒を特徴する遺伝性掌蹠角化症であり，Ca2+チャネルであるTRPV3遺伝子の異常で発症することが解明された．今回の研究では、遺伝性掌蹠角化症の遺伝子変異の解析を行い, 本症の角化機構との比較を行った。さらに, モデルマウスのおけるTRPV３の機能解析と症状の検討も行った。

Research Products

• [Journal Article] Anti-laminin γ1 pemphigoid associated with ulcerative colitis and psoriasis vulgaris showing autoantibodies to laminin γ1, type XVII collagen and laminin-332. (2015)
  • Author(s): Akasaka E, Nakano H, Korekawa A, Fukui T, Kaneko T, Koga H, Hashimoto T, Sawamura D.
  • Journal Title: Eur J Dermatol Volume: 26 Pages: 印刷中
  • DOI: 10.1684/ejd.2014.2499
  • Peer Reviewed / Open Access
• [Journal Article] Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA. (2015)
  • Author(s): Akasaka E, Okawa Y, Nakano H, Takiyoshi N, Rokunohe D, Toyomaki Y, Sawamura D, Sueki H.
  • Journal Title: J Dermatol Sci Volume: 78 Pages: 印刷中
  • DOI: 10.1016/j.jdermsci.2015.02.004.
  • Peer Reviewed / Open Access
• [Journal Article] Atopic Diathesis in Hypohidrotic/Anhidrotic Ectodermal Dysplasia. (2015)
  • Author(s): Koguchi-Yoshioka H, Wataya-Kaneda M, Yutani M, Murota H, Nakano H, Sawamura D, Katayama I.
  • Journal Title: Acta Derm Venereol Volume: 95 Pages: 印刷中
  • DOI: 10.2340/00015555-1978.
  • Peer Reviewed / Open Access
• [Journal Article] Severe scoliosis associated with the WNT10A mutation. (2015)
  • Author(s): Koguchi-Yoshioka H, Wataya-Kaneda M, Nakano H, Tanemura A, Akasaka E, Sawamura D, Katayama I.
  • Journal Title: J Dermatol Volume: 42 Pages: 322-323
  • DOI: 10.1111/1346-8138.12762.
  • Peer Reviewed / Open Access
• [Journal Article] A new EDA gene mutation in a family of X-linked hypohidrotic ectodermal dysplasia. (2015)
  • Author(s): Ohashi M, Moriya C, Tanahashi K, Nakano H, Sawamura D, Seishima M
  • Journal Title: J Dermatol Sci. Volume: 74 Pages: 175-177
  • DOI: 10.1016/j.jdermsci.2014.01.003.
  • Peer Reviewed / Open Access
• [Journal Article] A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes. (2014)
  • Author(s): Shimizu Y, Ogawa Y, Sugiura K, Takeda J, Sakai-Sawada K, Yanagi T, Kon A,
  • Journal Title: Sci Rep Volume: 4 Pages: 6737
  • DOI: 10.1038/srep06737.
  • Peer Reviewed / Open Access
• [Journal Article] Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype. (2014)
  • Author(s): Yoshihara N, Nakano H, Sawamura D, Ikeda S.
  • Journal Title: J Dermatol Volume: 41 Pages: 939-940
  • DOI: 10.1111/1346-8138.12621.
  • Peer Reviewed / Open Access
• [Journal Article] Case of oculocutaneous albinism complicated with squamous cell carcinoma, Bowen's disease and actinic keratosis. (2014)
  • Author(s): Minakawa S, Kaneko T, Matsuzaki Y, Akasaka E, Mizukami H, Abe Y, Hozumi Y,
  • Journal Title: J Dermatol． Volume: 41 Pages: 863-864
  • DOI: 10.1111/1346-8138.12597.
  • Peer Reviewed / Open Access
• [Journal Article] Functional analysis of the nuclear localization signal of the POU transcription factor Skn-1a in epidermal keratinocytes. (2014)
  • Author(s): Moritsugu R, Tamai K, Nakano H, Aizu T, Nakajima K, Yamazaki T, Sawamura D.
  • Journal Title: Int J Mol Med. Volume: 34 Pages: 539-544
  • DOI: 10.3892/ijmm.2014.1803.
  • Peer Reviewed
• [Presentation] 長島型掌蹠角化症型の遺伝子診断 (2014)
  • Author(s): 櫻庭裕佑、赤坂英二郎、六戸大樹、中野創、澤村大輔
  • Organizer: 第29回角化症研究会
  • Place of Presentation: 東京商工会議所（東京）
  • Year and Date: 2014-08-02
• [Presentation] SERPINB7変異を同定した長島型掌蹠角化症の1例 (2014)
  • Author(s): 1.赤坂英二郎，鷹木由里子，豊巻由香，中野 創，澤村大輔，矢口 直
  • Organizer: 日本皮膚科学会青森地方会第366回例会
  • Place of Presentation: ホテルニューキャッスル（弘前市）
  • Year and Date: 2014-05-25