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Functional analyses of the genes responsible for hereditary pigment disorders

Research Project

Project/Area Number 22591236
Research Category

Grant-in-Aid for Scientific Research (C)

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

Principal Investigator

SUZUKI Tamio  山形大学, 医学部, 教授 (30206502)

Research Collaborator HOZUMI Yutaka  山形大学, 医学部, 技術専門員
ABE Yuko  山形大学, 大学院・医学系研究科, 院生
OKAMOTO Ken  山形大学, 大学院・医学系研究科, 院生
ARAKI Yuua  山形大学, 大学院・医学系研究科, 院生
Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2012: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Keywordsメラニン / 色素細胞 / 遺伝子変異 / 眼皮膚白皮症 / メンブレントラフィック / 色素異常 / 遺伝性 / 白皮症 / 遺伝子診断 / 遺伝性対側性色素異常症 / 色素沈着 / 色素脱出
Research Abstract

We have collected more than 100 samples ofpatientswithhereditary pigment disorders, which are rare in the world, and genetically diagnosed them. The results have been were reported. And we have investigated the pathomechanism of dyschromatosis symmetrica hereditaria (DSH), and found some interesting data showing association between virus infection and DSH.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (60 results)

All 2013 2012 2011 2010 Other

All Journal Article (25 results) (of which Peer Reviewed: 25 results) Presentation (20 results) (of which Invited: 1 results) Book (13 results) Remarks (1 results) Patent(Industrial Property Rights) (1 results)

  • [Journal Article] Association of melanogenesis genes with skin color variation among Japanese females2013

    • Author(s)
      Abe Y, Tamiya G, Nakamura T, Hozumi Y, and Suzuki T
    • Journal Title

      J Dermatol Sci

      Volume: 69 Pages: 167-172

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association of melanogenesis genes with skin color variation among Japanese females2013

    • Author(s)
      Abe Y, Tamiya G, Nakamura T, Hozumi Y, Suzuki T.
    • Journal Title

      J Dermatol Sci

      Volume: 69(2) Issue: 2 Pages: 167-172

    • DOI

      10.1016/j.jdermsci.2012.10.016

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] その他:尋常性白斑診療ガイドライン2012

    • Author(s)
      鈴木民夫、金田眞理、種村篤
    • Journal Title

      日皮会誌

      Volume: 122 Pages: 1725-1740

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature2012

    • Author(s)
      Rice GI, Kasher PR, Suzuki T, Crow YJ, et al.
    • Journal Title

      Nat Genet

      Volume: 44 Issue: 11 Pages: 1243-1248

    • DOI

      10.1038/ng.2414

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria2012

    • Author(s)
      Kawaguchi M, Hayashi M, Suzuki T et al.
    • Journal Title

      J Dermatol Sci

      Volume: 66 Issue: 3 Pages: 245-246

    • DOI

      10.1016/j.jdermsci.2012.01.009

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Reduced GNG2 expression levels in mouse malignant melanomas and human melanoma cell lines2012

    • Author(s)
      Yajima I, Kumasaka MY, Suzuki T, Kato M et al.
    • Journal Title

      Am J Can Res

      Volume: 2

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Lipocalin-type prostaglandin D synthase as a marker for the growth potential of melanocyte-linage cells in the human skin2012

    • Author(s)
      Shimanuki M, Takeda K, Kawaguchi M, Suzuki T, and Shibahara S
    • Journal Title

      J Dermatol

      Volume: 39 Issue: 8 Pages: 699-704

    • DOI

      10.1111/j.1346-8138.2011.01485.x

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Oculocutaneous albinism 1 minimal pigment type : a case report on the analysis of genotype of an OCA1MP patient2012

    • Author(s)
      Kono, M., Kondo, T., Ito, S., Suzuki, T., Wakamatsu, K, et al
    • Journal Title

      Br.J.Dermatol.

      Volume: 166 Issue: 4 Pages: 896-898

    • DOI

      10.1111/j.1365-2133.2011.10690.x

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Dyschromatosis symmetrica hereditaria: a case report from Turkey, a new association and a novel gene mutation2012

    • Author(s)
      Bilen N, Akturk AS, Kawaguchi M, Suzuki T et al.
    • Journal Title

      J Dermatol

      Volume: 39 Issue: 10 Pages: 857-858

    • DOI

      10.1111/j.1346-8138.2012.01575.x

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Blaschkitis-like eruptions with hypodontia and low IκB kinase gamma expression2012

    • Author(s)
      Oiso N, Kimura M, Suzuki T, et al
    • Journal Title

      J Dermatol

      Volume: 39 Issue: 11 Pages: 941-943

    • DOI

      10.1111/j.1346-8138.2011.01493.x

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene2012

    • Author(s)
      Oshimo T, Fukai K, Suzuki T, et al
    • Journal Title

      J Dermatol

      Volume: 39 Issue: 12 Pages: 1022-1025

    • DOI

      10.1111/j.1346-8138.2012.01671.x

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain.2012

    • Author(s)
      Arase N, Wataya-Kaneda M, Oiso N, Tanemura A, Kawada A, Suzuki T, Katayama I
    • Journal Title

      J Dermatol Sci.

      Volume: 64(2) Issue: 2 Pages: 147-9

    • DOI

      10.1016/j.jdermsci.2011.08.006

    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Reduced GNG2 expression levels in mouse malignant melanomas and human melanoma cell lines.2012

    • Author(s)
      Yajima I
    • Journal Title

      Am J Can Res

      Volume: 2 Pages: 322-329

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Dermoscopic features of dyschromatosis symmetrica hereditaria2011

    • Author(s)
      Oiso N, Murata I, Suzuki T,et al.
    • Journal Title

      J Dermatol

      Volume: 38 Issue: 1 Pages: 91-93

    • DOI

      10.1111/j.1346-8138.2010.01110.x

    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Two children with a mild or moderate piebaldism phenotype and a father with no leukoderma in a family with the same recurrent missense mutation in the kinase domain of KIT2011

    • Author(s)
      Narita T, Oiso N, Suzuki T et al.
    • Journal Title

      Euro J Dermatol

      Volume: 21 Issue: 3 Pages: 446-447

    • DOI

      10.1684/ejd.2011.1350

    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Oculocutaneous Albinism Type 3: a Japanese Girl With Novel Mutations in TYRP1 gene2011

    • Author(s)
      Yamada M, Hayashi M, Suzuki T et al.
    • Journal Title

      J Dermatol Sci

      Volume: 64 Issue: 3 Pages: 217-222

    • DOI

      10.1016/j.jdermsci.2011.09.005

    • NAID

      10030893699

    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Dyschromatosis symmetrica hereditaria with acral hypertrophy2011

    • Author(s)
      Murata T, Yagi Y, Tanioka M, Suzuki T, et al.
    • Journal Title

      Euro J Dermatol

      Volume: 21 Issue: 4 Pages: 649-650

    • DOI

      10.1684/ejd.2011.1486

    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Generalized Vitiligo and Associated Autoimmune Diseases in Japanese Patients and Their Families2011

    • Author(s)
      Narita T, Oiso N, Suzuki T et al.
    • Journal Title

      Allergology International

      Volume: 60 Issue: 4 Pages: 505-508

    • DOI

      10.2332/allergolint.11-OA-0303

    • NAID

      130004477112

    • ISSN
      1323-8930, 1440-1592
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] on behalf of the Vitiligo Global Issue Consensus Conference panelists: Revised classification/nomenclature of vitiligo and related issues: The Vitiligo Global Issues Consensus Conference2011

    • Author(s)
      Ezzedine K, Lim HW , Suzuki T, et al.
    • Journal Title

      Pigment Cell Melanoma Res

      Volume: 25 Issue: 3 Pages: 84-87

    • DOI

      10.1111/j.1755-148x.2012.00997.x

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] A case of subcutaneous lobular capillary hemangioma2011

    • Author(s)
      Hayashi M, et al.
    • Journal Title

      J Dermatol

      Volume: 38 Pages: 1003-1006

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Dystrophic epidermolysis bullosa pruriginosa of elderly onset2011

    • Author(s)
      Hayashi M, et al.
    • Journal Title

      J Dermatol

      Volume: 38 Issue: 2 Pages: 173-178

    • DOI

      10.1111/j.1346-8138.2010.00953.x

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutation Analysis of Patients with Dyschromatosis Symmetrica Hereditaria: Five Novel Mutations of the ADAR1 Gene2010

    • Author(s)
      Murata I, Hayashi M, Suzuki T et al.
    • Journal Title

      J Dermatol Sci

      Volume: 58 Issue: 3 Pages: 218-220

    • DOI

      10.1016/j.jdermsci.2010.04.001

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Linear IgA bullous dermatosis associated with herpes simplex virus infection and Kawasaki disease.2010

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

      J Dermatol

      Volume: 37 Pages: 276-279

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A missense mutation c.G2747A(p.R916Q)of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation.2010

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

      Arch Dermatol Res

      Volume: 302 Pages: 481-482

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutation Analysis of Patients with Dyschromatosis Symmetrica Hereditaria:Five Novel Mutations of the ADAR1 Gene.2010

    • Author(s)
      Murata I, et al
    • Journal Title

      J Dermatol Sci

      Volume: 58 Pages: 218-220

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Presentation] Genetic variants in pigmentation genes, skin color, and risk of skin cancer in Japanese2012

    • Author(s)
      T. Suzuki , Y. Abe, J. Yoshizawa, Y. Hozumi, T. Nakamura, G. Tamiya
    • Organizer
      62th Annual Meeting of The American Society of Human Genetics
    • Place of Presentation
      Moscone Center, San Francisco, USA
    • Related Report
      2012 Final Research Report
  • [Presentation] Genetic variants in pigmentation genes, skin color, and risk of skin cancer in Japanese2012

    • Author(s)
      T. Suzuki
    • Organizer
      62th Annual Meeting of The American Society of Human Genetics
    • Place of Presentation
      Moscone Center(San Francisco, USA)
    • Related Report
      2012 Annual Research Report
  • [Presentation] OCA2 polymorphisms are associated with skin color and risk of skin cancer in Japanese population2012

    • Author(s)
      Yoshizawa J
    • Organizer
      第24回日本色素細胞学会
    • Place of Presentation
      長浜バイオ大学(滋賀県長浜市)
    • Related Report
      2012 Annual Research Report
  • [Presentation] Recent proceedings in hereditary hypopigmentary disorders2012

    • Author(s)
      T. Suzuki
    • Organizer
      第24回日本色素細胞学会
    • Place of Presentation
      長浜バイオ大学(滋賀県長浜市)
    • Related Report
      2012 Annual Research Report
  • [Presentation] 遺伝性対側性色素異常症について2012

    • Author(s)
      鈴木民夫
    • Organizer
      第111回日本皮膚科学会総会
    • Place of Presentation
      国立京都国際会館(京都府京都市)
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 皮膚科領域の遺伝子検査2012

    • Author(s)
      鈴木民夫
    • Organizer
      第57回日本人類遺伝学会
    • Place of Presentation
      京王プラザホテル(東京都新宿区)
    • Related Report
      2012 Annual Research Report
  • [Presentation] Hypopigmentary disorders: a better understanding from a genetic view2011

    • Author(s)
      T. Suzuki
    • Organizer
      The 9th International Symposium of the Cutaneous Biology Research Institute
    • Place of Presentation
      Yonsei University, Seoul, Korea
    • Year and Date
      2011-10-01
    • Related Report
      2012 Final Research Report
  • [Presentation] Hypopigmentary disorders : a better understanding from a genetic view2011

    • Author(s)
      Suzuki T.
    • Organizer
      The 9th International Symposium of the Cutaneous Biology Research Institute
    • Place of Presentation
      Seoul, Korea(招待講演)
    • Year and Date
      2011-10-01
    • Related Report
      2011 Annual Research Report
  • [Presentation] Hereditary hypo-pigmentary disorders2011

    • Author(s)
      T. Suzuki, M. Hayashi
    • Organizer
      22nd World Congress of Dermatology
    • Place of Presentation
      COEX Convention and Exhibition Center, Seoul, Korea
    • Related Report
      2012 Final Research Report
  • [Presentation] A Case of epidermolytic palmoplantar keratoderma with knuckle pads2011

    • Author(s)
      Hayashi M, Nakano H, Sawamura D, T. Suzuki
    • Organizer
      22nd World Congress of Dermatology
    • Place of Presentation
      COEX Convention and Exhibition Center, Seoul, Korea
    • Related Report
      2012 Final Research Report
  • [Presentation] What's new in albinism among Japanese 20112011

    • Author(s)
      T. Suzuki
    • Organizer
      21st International Pigment Cell Conference
    • Place of Presentation
      Palais des Congres of Bordeaux, Bordeaux, France
    • Related Report
      2012 Final Research Report
  • [Presentation] Association of the melanogenesis genes with Japanese skin color2011

    • Author(s)
      Y.Abe, Y.Hozumi, G Tamia, T. Suzuki
    • Organizer
      21st International Pigment Cell Conference
    • Place of Presentation
      Palais des Congres of Bordeaux,Bordeaux, France
    • Related Report
      2012 Final Research Report
  • [Presentation] Generalized vitiligo and related autoimmune disorders in Japanese patients and their families2011

    • Author(s)
      N. Oiso, K. Fukai, T. Narita, K. Kabashima, A. Kawada, T. Suzuki
    • Organizer
      21st International Pigment Cell Conference
    • Place of Presentation
      Palais des Congres of Bordeaux,Bordeaux, France
    • Related Report
      2012 Final Research Report
  • [Presentation] Oculocutaneous albinism 1 minimal pigment type; a case report on the analysis of genotype-phenotype correlation2011

    • Author(s)
      M. Kono, T. Kondo, S. Ito, T. Suzuki, K. Wakamatsu, S. Ito, Y. Tomita
    • Organizer
      21st International Pigment Cell Conference
    • Place of Presentation
      Palais des Congres of Bordeaux, Bordeaux, France
    • Related Report
      2012 Final Research Report
  • [Presentation] Albinochip: a universal genetic diagnosis for all known mutations associated to albinism2011

    • Author(s)
      E. Molto, A. Fernandez, C. Phillips, M. Torres, O. Maronas, B. Arveiler, F. Morice-Picard, A. Taieb, R. Aquaron, V. Schiaffino, M. Hayashi, T. Suzuki, M. Martinez, M. J. Trujillo, C. Ayuso, A. Carracedo, L. Montoliu
    • Organizer
      21st International Pigment Cell Conference
    • Place of Presentation
      Palais des Congres of Bordeaux, Bordeaux, France
    • Related Report
      2012 Final Research Report
  • [Presentation] Hereditary hypo-pigmentary disorders2011

    • Author(s)
      Suzuki T., et al.
    • Organizer
      22nd World Congress of Dermatology
    • Place of Presentation
      Seoul, Korea(招待講演)
    • Related Report
      2011 Annual Research Report
  • [Presentation] What's new in albinism among Japanese 20112011

    • Author(s)
      Suzuki T., et al.
    • Organizer
      21st International Pigment Cell Conference
    • Place of Presentation
      Bordeaux, France(招待講演)
    • Related Report
      2011 Annual Research Report
  • [Presentation] 遺伝性色素異常症の最近の話題2010

    • Author(s)
      鈴木民夫
    • Organizer
      日本皮膚科学会第353回福岡地方会
    • Place of Presentation
      久留米大学筑水会館
    • Year and Date
      2010-07-11
    • Related Report
      2010 Annual Research Report
  • [Presentation] Dermal lobular capillary hemangioma2010

    • Author(s)
      M Hayashi, T. Suzuki
    • Organizer
      The 1st Eastern Asia Dermatology Congress
    • Place of Presentation
      Hotel New Otani Hakata, Fukuoka, Japan
    • Related Report
      2012 Final Research Report
  • [Presentation] Nephrogenic systemic fibrosis; Two includes clinically different phenotypes; A study on Japanese patients2010

    • Author(s)
      N. Abe, Y. Matsumoto, Y. Mitsuhashi, F. Momma, T. Suzuki, R. Tsuboi
    • Organizer
      The 1st Eastern Asia Dermatology Congress
    • Place of Presentation
      Hotel New Otani Hakata,Fukuoka, Japan
    • Related Report
      2012 Final Research Report
  • [Book] 今日の治療指針 2013私はこう治療している(山口徹ら編)2013

    • Author(s)
      鈴木民夫
    • Total Pages
      1067
    • Publisher
      医学書院
    • Related Report
      2012 Final Research Report
  • [Book] 皮膚疾患最新の治療2013‐2014(滝川雅浩ら編)2013

    • Author(s)
      鈴木民夫
    • Publisher
      南江堂
    • Related Report
      2012 Final Research Report
  • [Book] 今日の治療指針20132013

    • Author(s)
      鈴木民夫
    • Total Pages
      1067
    • Publisher
      医学書院
    • Related Report
      2012 Annual Research Report
  • [Book] 皮膚疾患最新の治療2013‐20142013

    • Author(s)
      鈴木民夫
    • Publisher
      南江堂
    • Related Report
      2012 Annual Research Report
  • [Book] 匠に学ぶ皮膚科外用療法(上出良一編)2012

    • Author(s)
      林昌浩、鈴木民夫
    • Publisher
      全日本病院出版会
    • Related Report
      2012 Final Research Report
  • [Book] 今日の皮膚疾患治療指針第4版(塩原哲夫ら編)2012

    • Author(s)
      鈴木民夫
    • Publisher
      医学書院
    • Related Report
      2012 Final Research Report
  • [Book] 今日の治療指針 2011私はこう治療している(山口徹ら編)2012

    • Author(s)
      鈴木民夫
    • Publisher
      医学書院
    • Related Report
      2012 Final Research Report
  • [Book] 匠に学ぶ皮膚科外用療法2012

    • Author(s)
      林昌浩
    • Publisher
      全日本病院出版会
    • Related Report
      2012 Annual Research Report
  • [Book] 今日の皮膚疾患治療指針第4版、びまん性色素沈着をきたす疾患2012

    • Author(s)
      鈴木民夫
    • Publisher
      医学書院
    • Related Report
      2012 Annual Research Report
  • [Book] Oculocutaneous albinism in Asians. Asian Skin and Skin Diseases(Edited by HC Eun, SC Kim, and WS Lee)2011

    • Author(s)
      Suzuki T., et al.
    • Total Pages
      6
    • Publisher
      Medrang Inc., Seoul
    • Related Report
      2011 Annual Research Report
  • [Book] Dyschromatosis Symmetrica Hereditaria. Asian Skin and Skin Diseases(Edited by HC Eun, SC Kim, and WS Lee)2011

    • Author(s)
      Tomita Y., et al.
    • Total Pages
      6
    • Publisher
      Medrang Inc., Seoul
    • Related Report
      2011 Annual Research Report
  • [Book] からだと光の事典(太陽紫外線防御研究委員会編)2010

    • Author(s)
      鈴木民夫
    • Publisher
      朝倉書店
    • Related Report
      2012 Final Research Report
  • [Book] 今日の治療指針2010私はこう治療している2010

    • Author(s)
      山口徹, ら編
    • Publisher
      医学書院
    • Related Report
      2010 Annual Research Report
  • [Remarks]

    • URL

      http://minfo2.id.yamagata-u.ac.jp/hifuka/index.html

    • Related Report
      2012 Final Research Report
  • [Patent(Industrial Property Rights)] ケラチノサイトのメラノソーム取り込み輸送の検出方法2011

    • Inventor(s)
      鈴木民夫, ら
    • Industrial Property Rights Holder
      鈴木民夫, ら
    • Industrial Property Number
      2010-081487
    • Filing Date
      2011-01-17
    • Related Report
      2010 Annual Research Report

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Published: 2010-08-23   Modified: 2019-07-29  

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