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Study on regulatory mechanism of melanin synthesis clarified by elucidation of molecular pathology on pigmentary disorders

Research Project

Project/Area Number 21591459
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Dermatology
Research InstitutionNagoya University

Principal Investigator

SAWADA Masaki  名古屋大学, 医学部附属病院, 助教 (80467315)

Co-Investigator(Kenkyū-buntansha) KONO Michihiro  名古屋大学, 大学院・医学系研究科, 講師 (60319324)
MATSUMOTO Takaaki  名古屋大学, 医学部附属病院, 助教 (70508944)
SAWADA Masaki  名古屋大学, 医学部附属病院, 助教 (80467315)
Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2011: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2010: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2009: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Keywords色素細胞学 / 眼皮膚白皮症 / Hermansky-Pudlak症候群 / 遺伝性対側性色素異常症 / モデルマウス / メラノサイト初代培養
Research Abstract

Eight novel mutations in ADAR1 which caused in Dyschromatosis symmetrica hereditaria were identified.
Novel substrate gene of ADAR1 was tried identifying in silico by using gene database.
ADAR1 p150 isoform specific knockout mice were constructed and it was investigated that the homozygous mice lead to embryonic lethality. Investigation of phenotype of the heterozygous mice was done.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (45 results)

All 2011 2010 2009 Other

All Journal Article (26 results) (of which Peer Reviewed: 20 results) Presentation (16 results) Book (3 results)

  • [Journal Article] 遺伝子解析より眼皮膚白皮症4型と考えられた1例2011

    • Author(s)
      小島知子, 馬渕智生, 梅澤慶紀, 松山孝, 小澤明, 近藤泰輔, 河野通浩, 富田靖, 鈴木民夫
    • Journal Title

      日本皮膚科学会雑誌

      Volume: 121(2) Pages: 1707-13

    • NAID

      10031164950

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Detection of Merkel cell polyomavirus in cutaneous squamous cell carcinoma before occurrence of Merkel cell carcinoma2011

    • Author(s)
      Kaibuchi-Noda K, Yokota K, Matsumoto T, Sawada M, Sakakibara A, Kono M, et al
    • Journal Title

      J Am Acad Dermatol.

      Volume: 65

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 悪性黒色腫と肺がんと咽頭癌の3重複癌の1例2011

    • Author(s)
      野田香奈、松本高明、澤田昌樹, ら
    • Journal Title

      皮膚科の臨床

      Volume: 53 Pages: 540-541

    • Related Report
      2011 Annual Research Report 2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Dermoscopic evaluation of vascular structures of various skin tumors in Japanese patients2010

    • Author(s)
      Akihiro Sakakibara, Michihiro Kamijima, Shinichi Shibata, Satoshi Yasue, Michihiro Kono, Yasushi Tomita
    • Journal Title

      Japanese patients

      Volume: 37(4) Pages: 316-322

    • NAID

      10027066531

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Interval sentinel lymph nodes in patients with cutaneous melanoma : A single-institution study in Japan2010

    • Author(s)
      Takaaki Matsumoto, Shinichi Shibata, Satoshi Yasue, Akihiro Sakakibara, KenjiYokota, Masaki Sawada, Michihiro Kono, Katsuhiko Kato, Yoshie Shimoyama, Yasushi Tomita.
    • Journal Title

      J Dermatol

      Volume: 37(7) Pages: 629-634

    • NAID

      10026637323

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutation analyses of patients with dyschromatosis symmetrica hereditaria : Five novel mutations of the ADAR1 gene2010

    • Author(s)
      Ichidai Murata, Masahiro Hayashi, Yutaka Hozumi, Kazuyasu Fujii, Nozomi Kuroki, Yoshihiko Mitsuhashi, Naoki Oiso, Kazuyoshi Fukai, Yasuki Mori, Atsushi Utani, Yasushi Tomita, Yasuyuki Fujita, Tamio Suzuki.
    • Journal Title

      J Dermatol Sci

      Volume: 58(3) Pages: 218-220

    • Related Report
      2011 Final Research Report
  • [Journal Article] 【治療にてこずる皮膚疾患】尋常性白斑被覆化粧品・医薬部外品2010

    • Author(s)
      河野通浩
    • Journal Title

      皮膚科の臨床

      Volume: 52(11) Pages: 1707-1713

    • Related Report
      2011 Final Research Report
  • [Journal Article] 私の色素細胞と悪性黒色腫に関する研究2010

    • Author(s)
      富田靖
    • Journal Title

      皮膚科の臨床

      Volume: 52 Pages: 1985-1994

    • Related Report
      2011 Final Research Report
  • [Journal Article] Interval sentinel lymph nodes in patients with cutaneous melanoma : a single-institution study in Japan2010

    • Author(s)
      Matsumoto T, Shibata S, Yasue S, Sakakibara A, Yokota K, Sawada M, Kono M, Kato K, Shimoyama Y, Tomita Y
    • Journal Title

      J Dermatol

      Volume: 37 Pages: 629-34

    • NAID

      10026637323

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Demoscopic evaluation of vascular structures of various skin tumors in Japanese patients2010

    • Author(s)
      Sakakibara A, Kamijima M, Shibata S, Yasue S, Kono M, Tomita Y
    • Journal Title

      J Dermatol

      Volume: 37 Pages: 316-22

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 遺伝子解析より眼皮膚白皮症4型と考えられた1例2010

    • Author(s)
      小島知子, 馬渕智生, 梅澤慶紀, 松山孝, 小澤明, 近藤泰輔, 河野通浩, 富田靖, 鈴木民夫
    • Journal Title

      日本皮膚科学会雑誌

      Volume: 52 Pages: 1707-1713

    • NAID

      10031164950

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 肛囲に生じた巨大尖圭コンジローマの1例2010

    • Author(s)
      馬場義博, 榊原章浩, 松本高明, 澤田昌樹, 横田憲二, 富田靖
    • Journal Title

      皮膚科の臨床

      Volume: 52 Pages: 1823-1825

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 陰茎亀頭部の有棘細胞癌の1例2010

    • Author(s)
      馬場義博, 横田憲二, 松本高明, 澤田昌樹, 榊原章浩, 佐々直人, 富田靖
    • Journal Title

      皮膚科の臨床

      Volume: 52 Pages: 1459-1462

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Oculocutaneous albinism type IV : A boy of Moroccan descent with a novel mutation inSLC45A22009

    • Author(s)
      Takayuki Konno, Yuko Abe, Masakazu Kawaguchi, Katrien Storm, Martine Biervliet, Winnie Courtens, MichihiroKono, Yasushi Tomita, Tamio Suzuki.
    • Journal Title

      Am J Med Genet A

      Volume: 149A(8) Pages: 1773-1776

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria2009

    • Author(s)
      Ichidai Murata, Yutaka Hozumi, Masakazu Kawaguchi, Yoshiyuki Katagiri, Shinichiro Yasumoto, Yoshiaki Kubo, Wataru Fujimoto, Tatsuya Horikawa, Taisuke Kondo, Michihiro Kono, Yasushi Tomita, Tamio Suzuki.
    • Journal Title

      J Dermatol Sci

      Volume: 53(1) Pages: 76-77

    • NAID

      10025332183

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Establishment of a screening system for chemicals that up regulate a melanoma antigen2009

    • Author(s)
      Hai Zhen Song, Michihiro Kono, Yasushi Tomita.
    • Journal Title

      Melan-A/MART-1 Tohoku J Exp Med

      Volume: 217(3) Pages: 231-237

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] SLC45A2(MATP)遺伝子に新規変異を認めた眼皮膚白皮症4型2009

    • Author(s)
      稲垣克彦、鈴木民夫、富田靖
    • Journal Title

      皮膚病診療

      Volume: 31(3) Pages: 341-344

    • Related Report
      2011 Final Research Report
  • [Journal Article] 遺伝子解析により診断されたHermansky-Pudlak症候群の女児例2009

    • Author(s)
      近藤泰輔、鈴木民夫、河野通浩、中澤満、富田靖
    • Journal Title

      皮膚病診療

      Volume: 31(3) Pages: 333-336

    • Related Report
      2011 Final Research Report
  • [Journal Article] 遺伝性対側性色素異常症病因遺伝子の変異部位はADAR1酵素のp150アイソフォームの欠損を示す2009

    • Author(s)
      河野通浩、近藤泰輔、鈴木民夫、鈴木教之、富田靖
    • Journal Title

      皮膚病診療

      Volume: 31(3) Pages: 309-312

    • Related Report
      2011 Final Research Report
  • [Journal Article] Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis : ahidden link?

    • Author(s)
      Kono M, Akiyama M, et al.(5人中1番目)
    • Journal Title

      Int J Dermatol

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Oculocutaneous albinism 1 minimal pigment type : A case report on the analysis of genotype of an OCA1MP patient

    • Author(s)
      Kono M, et al.(7人中1番目)
    • Journal Title

      Br J Dermatol

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Four novel ADAR1 gene mutations inpatients with dyschromatosis symmetrica hereditaria

    • Author(s)
      Kono M, Akiyama M, et al.(9人中1番目)
    • Journal Title

      J Dermatol

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Detection of Merkel cell polyomavirus in cutaneous squamous cell carcinoma prior to occurrence of Merkel cell carcinoma

    • Author(s)
      Kaibuchi-Noda K, …Kono M, et al.(11人中5番目)
    • Journal Title

      J Am Acad Dermatol

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clinico-pathologic Analysis of66 Japanese Thin Melanomas with Metastasis of Sentinel or Regional Lymph Node

    • Author(s)
      Mori M, Sugiura M, Kono M, et al.(12人中3番目)
    • Journal Title

      J Cutan Pathol

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Oculocutaneous albinism 1 minimal pigment type : A case report on the analysis of genotype of an OCA1MP patient

    • Author(s)
      Kono M, et al
    • Journal Title

      Br J Dermatol

      Volume: (In press)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria

    • Author(s)
      Kono M, Akiyama M, et al
    • Journal Title

      J Dermatol

      Volume: (In press)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Presentation] Two novel ADAR1 mutations in dyschromatosis symmetrica hereditaria suggest haploinsufficiency as pathomechanisms of the disease2011

    • Author(s)
      Michihiro Kono, Taisuke Kondo, Yasushi Tomita, Masashi Akiyama
    • Organizer
      The 36th Annual Meeting of the Japanese Society for Investigative Dermatology
    • Place of Presentation
      Kyoto, Japan
    • Related Report
      2011 Final Research Report
  • [Presentation] Oculo cutaneous albinism 1 minimal pigment type ; a case report on the analysis of genotype-phenotype correlation2011

    • Author(s)
      Michihiro Kono, Taisuke Kondo, Shiro Ito, Tamio Suzuki, Kazumasa Wakamatsu, ShosukeIto, Yasushi Tomita
    • Organizer
      XXIst International Pigment Cell Conference
    • Place of Presentation
      Bordeaux, France
    • Related Report
      2011 Final Research Report
  • [Presentation] Two novel ADAR1 mutations in dyschromatosis symmetrica hereditaria suggest haploinsufficiency as pathomechanisms of the disease2011

    • Author(s)
      Kono M, et al
    • Organizer
      The 36 th Annual Meeting of the Japanese Society for Investigative Dermatology
    • Place of Presentation
      Kyoto, Japan
    • Related Report
      2011 Annual Research Report
  • [Presentation] Oculocutaneous albinism 1 minimal pigment type ; a case report on the analysis of genotype-phenotype correlation2011

    • Author(s)
      Kono M, et al
    • Organizer
      XXIst International Pigment Cell Conference
    • Place of Presentation
      Bordeaux, France
    • Related Report
      2011 Annual Research Report
  • [Presentation] In-transit転移にsubtotal integmentectomyを施行後、経過が良好な下腿悪性黒色腫の一例2011

    • Author(s)
      横田憲二, 澤田昌樹, 松本高明, 秋山真志
    • Organizer
      第110回日本皮膚科学学会総会
    • Place of Presentation
      横浜
    • Related Report
      2011 Annual Research Report
  • [Presentation] Four novel ADAR1 mutations in patients with dyschromatosis symmetrica hereditaria and a mutation in patient associated with ence phalitis2010

    • Author(s)
      Michihiro Kono, Taisuke Kondo, Tamio Suzuki, Mari Kaneda, Akihiko Shibaki, Amarillis Sanchez-Valle, Hirotaka Akita, Yasushi Tomita
    • Organizer
      The 35th Annual Meeting of the Japanese Society for Investigative Dermatology
    • Place of Presentation
      和歌山
    • Year and Date
      2010-12-03
    • Related Report
      2011 Final Research Report
  • [Presentation] Five novel ADAR1 mutations in patients with dyschromatosis symmetrica hereditaria and a known mutation in a patient developing her skin manifestati on after viral encephalitis2010

    • Author(s)
      Michihiro Kono, Taisuke Kondo, Tamio Suzuki, Mari Kaneda, Sakuhei Fujiwara, Akihiko Shibaki, Amarillis Sanchez-Valle, Hirotaka Akita, Joseph Lam, Yasushi Tomita
    • Organizer
      第23回日本色素細胞学会
    • Place of Presentation
      東京
    • Year and Date
      2010-11-27
    • Related Report
      2011 Final Research Report
  • [Presentation] Five novel ADAR1 mutations in patients with dyschromatosis symmetrica hereditaria and a known mutation in a patient developing her skin manifestation after viral encephalitis2010

    • Author(s)
      Kono M, Kondo T, Suzuki T, Kaneda M, Fujiwara S, Shibaki A, Sanchez-Valle A, Akita H, Lam J, Tomita Y
    • Organizer
      第23回日本色素細胞学会
    • Place of Presentation
      東京慈恵会医科大学(東京)
    • Year and Date
      2010-11-27
    • Related Report
      2010 Annual Research Report
  • [Presentation] 先天性巨大色素性母斑より発症した悪性黒色腫の小児例と成人例2010

    • Author(s)
      澤田昌樹, 横田憲二, 榊原章浩, 松本高明, 富田靖, 下山芳江, 是坂哲, 伊藤史郎
    • Organizer
      第109回日本皮膚科学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2010-04-16
    • Related Report
      2010 Annual Research Report
  • [Presentation] Four novel ADAR1 mutations in patients with dyschromatosis symmetrica hereditaria and a mutation in patient associated with encephalitis2010

    • Author(s)
      Kono M, Kondo T, Suzuki T, Kaneda M, Shibaki A, Sanchez-Valle A, Akita H, Tomita Y
    • Organizer
      日本研究皮膚科学会第35回年次学術大会・総会
    • Place of Presentation
      和歌山県民文化会館(和歌山)
    • Related Report
      2010 Annual Research Report
  • [Presentation] 腹部に生じた隆起性皮膚腺肉腫の手術症例2010

    • Author(s)
      稲坂優, 柴田真一, 澤田昌樹, 横田憲二, 榊原章浩, 富田靖, 鳥山和宏, 亀井譲
    • Organizer
      東海地方会243回
    • Place of Presentation
      名古屋
    • Related Report
      2010 Annual Research Report
  • [Presentation] 遺伝性対側性色素異常症の病因遺伝子ADAR1の分化段階の異なるマウスメラノサイトでの働きの検討2009

    • Author(s)
      河野通浩、鈴木民夫、富田靖
    • Organizer
      第22回日本色素細胞学会学術大会
    • Place of Presentation
      福岡
    • Year and Date
      2009-12-05
    • Related Report
      2011 Final Research Report
  • [Presentation] 遺伝性対側性色素異常症の病因遺伝子ADAR1の分化段階の異なるマウスメラノサイトでの働きの検討2009

    • Author(s)
      河野通浩、鈴木民夫、富田靖
    • Organizer
      第16回分子皮膚科学フォーラム
    • Place of Presentation
      札幌
    • Year and Date
      2009-11-20
    • Related Report
      2011 Final Research Report
  • [Presentation] 右前胸部と左前腕の皮弁ドナー部に転移増殖を認めた右頬部のメルケル細胞癌の1例2009

    • Author(s)
      澤田昌樹
    • Organizer
      日本皮膚外科学会
    • Place of Presentation
      犬山市
    • Year and Date
      2009-06-20
    • Related Report
      2009 Annual Research Report
  • [Presentation] Knockdown of ADAR1 gene expression in cultured melanocytes by si RNA2009

    • Author(s)
      Michihiro Kono, Tamio Suzuki, Yasushi, Tomita
    • Organizer
      第34回日本研究皮膚科学会
    • Place of Presentation
      福岡
    • Related Report
      2011 Final Research Report
  • [Presentation] 遺伝子解析から眼皮膚白皮症4型と考えられた1例2009

    • Author(s)
      小島知子、馬渕智生、梅澤慶紀、松山孝、小澤明、近藤泰輔、河野通浩、富田靖、鈴木民夫
    • Organizer
      第108回日本皮膚科学会総会
    • Place of Presentation
      福岡
    • Related Report
      2011 Final Research Report
  • [Book] 看護大辞典第2版2010

    • Author(s)
      富田靖
    • Publisher
      医学書院
    • Related Report
      2011 Final Research Report
  • [Book] 美容皮膚科学2009

    • Author(s)
      富田靖
    • Publisher
      南山堂
    • Related Report
      2011 Final Research Report
  • [Book] 皮膚科診療カラーアトラス大系第3巻(色調異常/水疱性疾患・膿疱症)2009

    • Author(s)
      河野通浩
    • Publisher
      講談社
    • Related Report
      2011 Final Research Report

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Published: 2009-04-01   Modified: 2016-04-21  

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