Elucidation of pathogenesis of DSH with the model mouse that melanocyte is distributed in epidermis

• Project/Area Number: 21591460
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Dermatology
• Research Institution: Nagoya University
• Principal Investigator: KONO Michihiro 名古屋大学, 医学系研究科, 講師 (60319324)
• Co-Investigator(Kenkyū-buntansha): MASAKI Sawada 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: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2011: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2009: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
• Keywords: 色素細胞学 / 遺伝性対側性色素異常症 / ノックアウトマウス / モデルマウス / ADAR1 / SCF / メラノサイト

Research Abstract

1）ADAR1 p150 isoform specific knockout mice were constructed and the investigation of phenotype of the heterozygous mice was done.
（2）The SCF-transgenic (Tg) mouse and p150-Adar1-KO mouse were crossbred and the SCF-Tg/p150-Adar1-KO mouse that melanocyte was present in the epidermis was manufactured as a candidate of DSH model mouse. The phenotype of the mouse was examined.
（3）Eight novel mutations in ADAR1 which caused in Dyschromatosis symmetrica hereditaria were identified.

Research Products

• [Journal Article] Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link? (2013)
  • Author(s): Kono M, Akiyama M et al.
  • Journal Title: Int J Dermatol Volume: (in press)
  • Peer Reviewed
• [Journal Article] Clinico-pathologic Analysis of 66 Japanese Thin Melanomas with Metastasis of Sentinel or Regional Lymph Node. (2013)
  • Author(s): Mori M, Sugiura M, Kono M et al
  • Journal Title: J Cutan Pathol. Volume: (in press)
  • Peer Reviewed
• [Journal Article] Novel ADAR1 mutations including single amino acid deletion in the deaminase domain underly dyschromatosis symmetrica hereditaria in Japanese families (2013)
  • Author(s): Kono M, Suganuma M, Ito Y, Ujiie H, Morimoto K, Akiyama M
  • Journal Title: Int J Dermatol Volume: 印刷中 Issue: 3
  • DOI: 10.1111/j.1365-4632.2012.05765.x
  • Peer Reviewed
• [Journal Article] Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link? (2013)
  • Author(s): Kono M, Akiyama M, Suganuma M, Sanchez-Valle A, Tomita Y
  • Journal Title: Int J Dermatol Volume: 印刷中
  • Peer Reviewed
• [Journal Article] Oculocutaneous albinism 1 minimal pigment type: A case report on the analysis of genotype of an OCA1MP patient. (2012)
  • Author(s): Kono M et al.
  • Journal Title: Br J Dermatol. Volume: 166(4) Pages: 896-8
  • Peer Reviewed
• [Journal Article] Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria. (2012)
  • Author(s): Kono M, Akiyama M et al.
  • Journal Title: J Dermatol. Volume: 39(9) Pages: 819-21
  • Peer Reviewed
• [Journal Article] Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria (2012)
  • Author(s): Kono M, Akiyama M, Kondo T, Suzuki T, Suganuma M, Wataya-Kaneda M, Lam J, Shibaki A, Tomita Y
  • Journal Title: J Dermatol Volume: 39 Issue: 9 Pages: 819-21
  • DOI: 10.1111/j.1346-8138.2011.01385.x
  • Peer Reviewed
• [Journal Article] Detection of Merkel cell polyomavirus in cutaneous squamous cell carcinoma prior to occurrence of Merkel cell carcinoma. (2011)
  • Author(s): Kaibuchi-Noda K, … Kono M et al
  • Journal Title: J Am Acad Dermatol Volume: 65(5)
  • 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 (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
  • Peer Reviewed
• [Journal Article] Dermoscopic evaluation of vascular structures of various skin tumors in Japanese patients. (2010)
  • Author(s): Akihiro Sakakibara, Michihiro Kamijima, Shinichi Shibata, Satoshi Yasue, Michihiro Kono, Yasushi Tomita.
  • Journal Title: J Dermatol Volume: 37(4) Pages: 316-322
  • NAID: 10027066531
  • Peer Reviewed
• [Journal Article] Interval sentinel lymph nodes in patients with cutaneous melanoma: A single-institution study in Japan (2010)
  • Author(s): Takaaki Matsumoto, Shinichi Shibata, Satoshi Yasue, Akihiro Sakakibara, Kenji Yokota, Masaki Sawada, Michihiro Kono, Katsuhiko Kato, Yoshie Shimoyama, Yasushi Tomita.
  • Journal Title: J Dermatol Volume: 37(7) Pages: 629-634
  • NAID: 10026637323
  • Peer Reviewed
• [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
• [Journal Article] Interval sentinel lymph nodes in patients with cutaneous melanoma : a single-institution study in Japan (2010)
  • 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
  • Peer Reviewed
• [Journal Article] Dermoscopic evaluation of vascular structures of various skin tumors in Japanese patients (2010)
  • Author(s): Sakakibara A, Kamijima M, Shibata S, Yasue S, Kono M, Tomita Y
  • Journal Title: J Dermatol Volume: 37 Pages: 316-22
  • NAID: 10027066531
  • 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
• [Journal Article] Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. (2009)
  • Author(s): Takayuki Konno, Yuko Abe, Masakazu Kawaguchi, Katrien Storm, Martine Biervliet, Winnie Courtens, Michihiro Kono, Yasushi Tomita, Tamio Suzuki.
  • Journal Title: Am J Med Genet A Volume: 149A(8) Pages: 1773-1776
  • Peer Reviewed
• [Journal Article] Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria. (2009)
  • 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
  • Peer Reviewed
• [Journal Article] Establishment of a screening system for chemicals that upregulate a melanoma antigen, Melan-A/MART-1. (2009)
  • Author(s): Hai Zhen Song, Michihiro Kono, Yasushi Tomita.
  • Journal Title: Tohoku J Exp Med Volume: 217(3) Pages: 231-237
  • NAID: 10025105371
  • Peer Reviewed
• [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
• [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
• [Journal Article] Oculocutaneous albinism type IV : A boy of Moroccan descent with a novel mutation in SLC45A2. (2009)
  • Author(s): Konno T, Abe Y, Kawaguchi M, Storm K, Biervliet M, Courtens W, Kono M, Tomita Y, Suzuki T.
  • Journal Title: Am J Med Genet A Volume: 149A Pages: 1773-6
  • Peer Reviewed
• [Journal Article] 陰茎に生じた環状肉芽腫の1例 (2009)
  • Author(s): 吉田紫、正木貞男、河野通浩, 富田靖
  • Journal Title: 臨床皮膚科 Volume: 63 Pages: 747-9
  • Peer Reviewed
• [Presentation] Two novel ADAR1 mutations in dyschromatosis symmetrica hereditaria suggest haploinsufficiency as pathomechanisms of the disease (2011)
  • 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.
• [Presentation] Oculocutaneous albinism 1 minimal pigment type; a case report on the analysis of genotype-phenotype correlation (2011)
  • Author(s): Michihiro Kono, Taisuke Kondo, Shiro Ito, Tamio Suzuki, Kazumasa Wakamatsu, Shosuke Ito, Yasushi Tomita
  • Organizer: XXIst International Pigment Cell Conference.
  • Place of Presentation: Bordeaux, France.
• [Presentation] Two novel ADAR1 mutations in dyschromatosis symmetrica hereditaria suggest haploinsufficiency as pathomechanisms of the disease. (2011)
  • 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: 国立京都国際会館（京都）
• [Presentation] Oculocutaneous albinism 1 minimal pigment type; a case report on the analysis of genotype-phenotype correlation. (2011)
  • Author(s): Michihiro Kono, Taisuke Kondo, Shiro Ito, Tamio Suzuki, Kazumasa Wakamatsu, Shosuke Ito, Yasushi Tomita
  • Organizer: XXIst International Pigment Cell Conference
  • Place of Presentation: Bordeaux, France
• [Presentation] Four novel ADAR1 mutations in patients with dyschromatosis symmetrica hereditaria and a mutation in patient associated with encephalitis (2010)
  • 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
• [Presentation] Five novel ADAR1 mutations in patients with dyschromatosis symmetrica hereditaria and a known mutation in a patient developing her skin manifestation after viral encephalitis (2010)
  • 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
• [Presentation] Four novel ADAR1 mutations in patients with dyschromatosis symmetrica hereditaria and a mutation in patient associated with encephalitis (2010)
  • 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
• [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
• [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
• [Presentation] Knockdown of ADAR1 gene expression in cultured melanocytes by siRNA (2009)
  • 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
• [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
• [Presentation] 遺伝性対側性色素異常症の病因遺伝子ADAR1のヒト培養メラノサイトでの働きについて (2009)
  • Author(s): 河野通浩、近藤泰輔、鈴木民夫、富田靖
  • Organizer: 第15回分子皮膚科学フォーラム
  • Place of Presentation: 京都
• [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
  • Place of Presentation: 福岡
• [Book] 「遺伝性対側性色素異常症(遠山)」 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
  • Total Pages: 182
  • Publisher: 東京、講談社
• [Book] 皮膚科診療カラーアトラス大系 第3巻(色調異常/水庖性疾患・膿疱症)「遺伝性対側性色素異常症(遠山)」 (2009)
  • Author(s): 河野通浩
  • Total Pages: 186
  • Publisher: 講談社