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Study on mutation and expression of tyrosinase gene causing oculocutaneous albinisim.

Research Project

Project/Area Number 06454314
Research Category

Grant-in-Aid for General Scientific Research (B)

Allocation TypeSingle-year Grants
Research Field Dermatology
Research InstitutionAKITA UNIVERSITY

Principal Investigator

TOMITA Yasushi  Akita Univ.Sch.of Med, Dept.of Dermatol., Professor, 医学部, 教授 (70108512)

Co-Investigator(Kenkyū-buntansha) KUBOTA Takashi  Akita Univ.Sch.of Med, Dept.of Dermatol., Associate, 医学部, 助手 (60250875)
OKADA Osamu  Akita Univ.Sch.of Med, Dept.of Dermatol., Associate, 医学部, 助手 (40241658)
SATO Toshiki  Akita Univ.Sch.of Med, Dept.of Dermatol., Lecuturer, 医学部, 講師 (40187216)
Project Period (FY) 1994 – 1995
Project Status Completed (Fiscal Year 1995)
Budget Amount *help
¥7,200,000 (Direct Cost: ¥7,200,000)
Fiscal Year 1995: ¥1,900,000 (Direct Cost: ¥1,900,000)
Fiscal Year 1994: ¥5,300,000 (Direct Cost: ¥5,300,000)
Keywordsalbinism / mutation / gene diagnosis / melanin / tyrosinase / 点突然変異
Research Abstract

We examined the tyrosinase gene of two Japanese patients with tyrosinase-negative oculocutaneous albinism by allele-specific amplification analysis on two known point mutations in Japanese, and the results indicated that they were compound heterozygouts, namely, one allele of the tyrosinase gene harbored one of two known mutations and another allele probably had a mutation unknown in Japanese patients. Therefore, we have cloned and sequenced the tyrosinase gene of the two patients and identified two different point mutations. One is a nonsense mutation, codon 278CGA (Arg) to TGA (TER), and the other is a substitution mutation, codon 431CCA (Pro) to CTA (Leu). However, these same mutations have already been observed in a Guyanan and a Moroccan Jewish patient, and in an Indo-Pakistani patient, respectively.

Report

(3 results)
  • 1995 Annual Research Report   Final Research Report Summary
  • 1994 Annual Research Report
  • Research Products

    (21 results)

All Other

All Publications (21 results)

  • [Publications] Y Tomita: "The molecular genetics of albinism and piebaldism." Arch Dermatol. 130. 355-358 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] J Matsunaga, et al.: "Detection of point mutations in human tyrosinase gene by improved allele-specific amplification." Exp Dermatol. 4. 377-381 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] J Matsunaga, et al.: "R278ER and P431L mutations of tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism." Dermatol Sci. (印刷中).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 富田靖: "分子生物学的診断" 日皮会誌. 104. 1582-1586 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 富田靖: "眼皮膚白皮症" 皮膚臨床. 36. 1107-1117 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 富田靖: "白皮症" 日本小児皮膚科学会雑誌. 13. 59-63 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Y Tomita: "The molecular genetics of albinism and piebaldism." Arch Dermatol. 130. 355-358 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] J Matsunaga, Y Tomita, H Tagami: "Detection of point mutations in human tyrosinase gene by improved allele-specific amplification." Exp Dermatol. 4. 377-381 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] J Matsunaga, M Dakeishi, H Shimizu, Y Tomita: "R278ER and P431L mutations of tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism." J Dermatol Sci. (in press.).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Y.Tomita: "The molecular genetics of albinism and piebaldism." Arch Dermatol. 130. 355-358 (1994)

    • Related Report
      1995 Annual Research Report
  • [Publications] J Matsunaga,et al.: "Detection of point mutations in human tyrosinase gene by improved allele-specific amplification." Exp Dermatol. 4. 377-381 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] J Matsunaga,et al.: "R278ER and P431L mutations of tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism." J Dermatol Sci. 印刷中.

    • Related Report
      1995 Annual Research Report
  • [Publications] 富田 靖: "分子生物学的診断" 日皮会誌. 104. 1582-1586 (1994)

    • Related Report
      1995 Annual Research Report
  • [Publications] 富田 靖: "眼皮膚白皮症" 皮膚臨床. 36. 1107-1117 (1994)

    • Related Report
      1995 Annual Research Report
  • [Publications] 富田 靖: "白皮症" 日本小児皮膚科学会雑誌. 13. 59-63 (1994)

    • Related Report
      1995 Annual Research Report
  • [Publications] Y.Tomita: "The molecular genetics of albinism and piebaldism" Arch Dermatol. 130. 355-358 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] K.Yasumoto et al: "Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the humantyrosinasegen" Mol. Cell Biol.14. 8058-8070 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] K.Yokoyama et al: "Molecular cloning and functional analysis of a cDNA coding for human DOPA chrome tautomcrase/tyrosinase-related protein-2." Biochem Biophys Acta. 1217. 317-321 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 富田 靖: "分子生物学的診断" 日皮会誌. 104. 1582-1586 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 富田 靖: "眼皮膚白皮症" 皮膚臨床. 36. 1107-1117 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 富田 靖: "白皮症" 日本小児皮膚科学会雑誌. 13. 59-63 (1994)

    • Related Report
      1994 Annual Research Report

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Published: 1994-04-01   Modified: 2016-04-21  

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