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Identification and functional analysis of responsible gene(s) for Mongolian blue spot

Research Project

Project/Area Number 25670498
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Dermatology
Research InstitutionYamagata University

Principal Investigator

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

Research Collaborator HOZUMI Yutaka  , 技術系職員
OKAMURA Ken  
Project Period (FY) 2013-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2014: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2013: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
Keywords蒙古斑 / 色素細胞 / メラニン / 色素異常症
Outline of Final Research Achievements

A Mongolian spots is dermal melanocytosis which is a benign, congenital birthmark. It normally disappears five to eight years after birth. It is common among persons who are of Asian, and African descent, while rare in babies of full Caucasian descent, suggesting that genetic factor(s) might determine the condition. Then, in order to identify responsible gene(s) for Mongolian blue spot, we found 4 segregation families that had both babies with, or without Mongolian spot in the families, one Japanese and three Mongolian families. And, we collected 41 samples from the families, and extracted DNA. A linkage analysis to identify the locus on chromosome was done using the DNAs. However, we could not specify the locus which was statistically significant through the experiments. One of reasons why we failed to identify the Mongolian associated gene(s) would be ascertainment bias, which we depended on the uncertain memories of the parents about the Mongolian spot on their kids.

Report

(3 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • Research Products

    (31 results)

All 2015 2014 2013 Other

All Journal Article (12 results) (of which Peer Reviewed: 12 results) Presentation (12 results) (of which Invited: 3 results) Book (5 results) Remarks (2 results)

  • [Journal Article] Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese.2015

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

      Pigment Cell Melanoma Res

      Volume: 28 Issue: 2 Pages: 233-5

    • DOI

      10.1111/pcmr.12337

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Hermansky-Pudlak Syndrome Type 4 with a novel mutation.2014

    • Author(s)
      Araki Y, Ishii Y, Abe Y, Yoshizawa J, Okamoto F, Hozumi Y, Suzuki T
    • Journal Title

      J Dermatology

      Volume: 41 Issue: 2 Pages: 186-187

    • DOI

      10.1111/1346-8138.12386

    • Related Report
      2014 Annual Research Report 2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] A case of Hermansky-Pudlak syndrome 1 (HPS1) patient with milder symptoms in Japanese.2014

    • Author(s)
      Takeuchi S, Abe Y, Yamada T, Kawano S, Hozumi Y, Ito S, Suzuki T, Nishigori C
    • Journal Title

      J Dermatology

      Volume: 41 Issue: 3 Pages: 268-270

    • DOI

      10.1111/1346-8138.12390

    • Related Report
      2014 Annual Research Report 2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations.2014

    • Author(s)
      Okamura K, Yoshizawa J, Abe Y, Hanaoka K, Higashi N, Togawa Y, Nakagawa S, Kambe N, Funasaka Y, Ohko K, Hozumi Y, Suzuki T
    • Journal Title

      J Dermatol Sci

      Volume: 74 Issue: 2 Pages: 173-174

    • DOI

      10.1016/j.jdermsci.2013.12.011

    • Related Report
      2014 Annual Research Report 2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations.2014

    • Author(s)
      Yoshizawa J, Abe Y, Oiso N, Fukai K, Hozumi Y, Nakamura T, Narita T, Motokawa T, Wakamatsu K, Ito S, Kawada A, Tamiya G, Suzuki T
    • Journal Title

      J Dermatol

      Volume: 41 Issue: 4 Pages: 296-302

    • DOI

      10.1111/1346-8138.12432

    • Related Report
      2014 Annual Research Report 2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] An Intractable Case of Hermansky-Pudlak Syndrome2014

    • Author(s)
      Kanazu M, Arai T, Sugimoto C, Kitaichi M, Akira M, Abe Y, Hozumi Y, Suzuki T, Inoue Y
    • Journal Title

      Internal Medicine

      Volume: 53 Issue: 22 Pages: 2629-2634

    • DOI

      10.2169/internalmedicine.53.2446

    • NAID

      130004713242

    • ISSN
      0918-2918, 1349-7235
    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Gene expression and in situ localization of ADAM17 during skin wound healing.2014

    • Author(s)
      Kawaguchi M, Suzuki T
    • Journal Title

      Int J Dermatol

      Volume: 53 Issue: 3

    • DOI

      10.1111/ijd.12119

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] ADAM17 is involved in the regulation of chemokine expression in keratinocytes.2014

    • Author(s)
      Kawaguchi M, Suzuki T
    • Journal Title

      Int J Dermatol

      Volume: 53 Issue: 3

    • DOI

      10.1111/ijd.12090

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Case of a Mongolian child with extensive Mongolian spots in Mucopolysaccharidosis type VI: Identification of a novel mutation in the arylsulfatase B gene.2013

    • Author(s)
      Okamura K, Munkhbat B, Bachimeg B, Tamiya G, Hozumi Y, Suzuki T.
    • Journal Title

      J Dermatol

      Volume: 40 Issue: 9 Pages: 758-759

    • DOI

      10.1111/1346-8138.12237

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Agminated pigmented matricoma: a case of a unique tumor with a multifocal appearance composed of neoplastic matrical cells with a significant component of melanocyte.2013

    • Author(s)
      Nikaido M, Yamada M, Konno T, Hara K, Yamamoto T, Suzuki T
    • Journal Title

      J Cutan Pathol

      Volume: 40 Issue: 9 Pages: 823-828

    • DOI

      10.1111/cup.12185

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] A patient with dyschromatosis symmetrica hereditaria treated with mini punch grafting, followed by excimer light therapy.2013

    • Author(s)
      Kawakami T, Otaguchi R, Kyoya M, Soma Y, Suzuki T.
    • Journal Title

      Journal of Dermatology

      Volume: 40 Issue: 9 Pages: 771-772

    • DOI

      10.1111/1346-8138.12205

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.2013

    • Author(s)
      Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K, Tomita Y, Akiyama M.
    • Journal Title

      Hum Mol Genet

      Volume: 22 Issue: 17 Pages: 3524-3533

    • DOI

      10.1093/hmg/ddt207

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] Positive selection with diversity in oculocutaneous2014

    • Author(s)
      Shimanuki M, Tamiya G, Abe Y, Hozumi Y, Suzuki T
    • Organizer
      39th Annual Meeting fo the Japanese Society for Investigative Dermatology
    • Place of Presentation
      エキスポホテル(伊丹市)
    • Year and Date
      2014-12-13 – 2014-12-14
    • Related Report
      2014 Annual Research Report
  • [Presentation] Association of melanogenesis genes with skin color variation and risk factor for skin cancers among Japanese population.2014

    • Author(s)
      T. Suzuki, Y. Abe, J. Yoshizawa, N. Oiso, Y. Hozumi, T. Nakamura, G. Tamiya
    • Organizer
      3rd EADC 2014
    • Place of Presentation
      済州国際センター(韓国、済州島)
    • Year and Date
      2014-09-24 – 2014-09-26
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese.2014

    • Author(s)
      Shimanuki M, Tamiya G, Abe Y, Hozumi Y, Suzuki T
    • Organizer
      12th international pigment cell conference
    • Place of Presentation
      Shangri-La Hotel, Singapore
    • Year and Date
      2014-09-04 – 2014-09-07
    • Related Report
      2014 Annual Research Report
  • [Presentation] Genetic studies in Japanese patients with oculocutaneous albinism (OCA)2013

    • Author(s)
      T. Suzuki, J. Yoshizawa, Y. Abe, Y. Hozumi, M. Hayashi
    • Organizer
      International Investigative Dermatology 2013
    • Place of Presentation
      Edinburgh International Conference Centre, Edinburgh, UK
    • Related Report
      2013 Research-status Report
  • [Presentation] ADAM protease inhibitor regulates chemokine expression in human keratinocytes, and modulates melanogenesis in human melanocytes2013

    • Author(s)
      M. Kawaguchi, Y. Hozumi, T. Suzuki
    • Organizer
      International Investigative Dermatology 2013
    • Place of Presentation
      Edinburgh International Conference Centre, Edinburgh, UK
    • Related Report
      2013 Research-status Report
  • [Presentation] ロドデノール配合化粧品使用者にみられた白斑に関する検討2013

    • Author(s)
      阿部優子, 吉澤順子, 大江倫太郎, 穂積豊, 山川光徳, 鈴木民夫
    • Organizer
      第25回日本色素細胞学会学術大会
    • Place of Presentation
      大阪大学吹田キャンパス銀杏会館、吹田市
    • Related Report
      2013 Research-status Report
  • [Presentation] ADAMプロテアーゼ阻害剤はヒトメラノサイトのmelanogenesisを調節する2013

    • Author(s)
      川口雅一, 穂積豊, 鈴木民夫
    • Organizer
      第25回日本色素細胞学会学術大会
    • Place of Presentation
      大阪大学吹田キャンパス銀杏会館、吹田市
    • Related Report
      2013 Research-status Report
  • [Presentation] Extensive Mongolian Spots in Mucopolysaccharidosis Type VI2013

    • Author(s)
      Okamura K, Munkhbat B, Batchimeg B, Tamiya G, Hozumi Y, Suzuki T
    • Organizer
      第25回日本色素細胞学会学術大会
    • Place of Presentation
      大阪大学吹田キャンパス銀杏会館、吹田市
    • Related Report
      2013 Research-status Report
  • [Presentation] Association of melanogenesis genes with skin color variation and risk factor for skin cancers among Japanese population2013

    • Author(s)
      Suzuki T, Abe Y, Yoshizawa J, Shimanuki M, Hozumi Y, Tamiya G
    • Organizer
      第25回日本色素細胞学会学術大会
    • Place of Presentation
      大阪大学吹田キャンパス銀杏会館、吹田市
    • Related Report
      2013 Research-status Report
    • Invited
  • [Presentation] 網状肢端色素沈着症はADAM10遺伝子変異によって発症する2013

    • Author(s)
      河野通浩, 杉浦一充, 林昌浩, 高間弘道, 鈴木民夫, 松永佳世子, 富田靖, 秋山真志
    • Organizer
      第25回日本色素細胞学会学術大会
    • Place of Presentation
      大阪大学吹田キャンパス銀杏会館、吹田市
    • Related Report
      2013 Research-status Report
  • [Presentation] 眼皮膚白皮症における皮膚がん発症リスクについての文献的考察2013

    • Author(s)
      深井和吉, 安水真規子, 鶴田大輔, 大磯直毅, 鈴木民夫
    • Organizer
      第25回日本色素細胞学会学術大会
    • Place of Presentation
      大阪大学吹田キャンパス銀杏会館、吹田市
    • Related Report
      2013 Research-status Report
  • [Presentation] 『わかりやすい色素異常症』正常日本人の皮膚色決定因子2013

    • Author(s)
      鈴木民夫、 阿部優子、 穂積豊
    • Organizer
      第112回日本皮膚科学会総会
    • Place of Presentation
      パシフィコ横浜、横浜市
    • Related Report
      2013 Research-status Report
    • Invited
  • [Book] 今日の治療指針2015私はこう治療している2015

    • Author(s)
      鈴木民夫他
    • Total Pages
      1973
    • Publisher
      医学書院
    • Related Report
      2014 Annual Research Report
  • [Book] 皮膚疾患最新の治療2015‐20162015

    • Author(s)
      鈴木民夫他
    • Total Pages
      303
    • Publisher
      南江堂
    • Related Report
      2014 Annual Research Report
  • [Book] 今日の治療指針2013私はこう治療している2013

    • Author(s)
      鈴木民夫
    • Total Pages
      1067
    • Publisher
      医学書院
    • Related Report
      2013 Research-status 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
      2013 Research-status Report
  • [Book] 皮膚科臨床アセット20忘れてはならない皮膚科症候群,第20巻2013

    • Author(s)
      大磯直毅、鈴木民夫
    • Publisher
      中山書店
    • Related Report
      2013 Research-status Report
  • [Remarks] 山形大学医学部皮膚科講座ホームページ

    • URL

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

    • Related Report
      2014 Annual Research Report
  • [Remarks] 山形大学医学部皮膚科学講座

    • URL

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

    • Related Report
      2013 Research-status Report

URL: 

Published: 2014-07-25   Modified: 2019-07-29  

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