2021 Fiscal Year Final Research Report

The role of ZEB2 in melanocytes

Research Project

PDF

Project/Area Number	19K08794
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Multi-year Fund
Section	一般
Review Section	Basic Section 53050:Dermatology-related
Research Institution	Kochi University
Principal Investigator	Teraishi Mika 高知大学, 医学部附属病院, 医員 (40437736)
Co-Investigator(Kenkyū-buntansha)	中島喜美子高知大学, 教育研究部医療学系臨床医学部門, 准教授 (20403892) 山本真有子高知大学, 教育研究部医療学系臨床医学部門, 助教 (20423478) 柴田夕夏高知大学, 医学部附属病院, 医員 (60795186) 佐野栄紀高知大学, 教育研究部医療学系臨床医学部門, 教授 (80273621)
Project Period (FY)	2019-04-01 – 2022-03-31
Keywords	Mowat-Wilson症候群 / メラニン細胞 / ZEB2
Outline of Final Research Achievements	Patients with Mowat-Wilson syndrome caused by de novo heterozygous mutation of the ZEB2 gene, shows light brown hair. Chemical analysis of melanin revealed that the total amount of hair melanin of the patients was decreased　and the ratio of pheomelanin/eumelanin as well as the absolute amounts of pheomelanin were increased. To investigate the effect of ZEB2 gene knockdown of melanocytes on melanin chemical phenotype change, we used the CRISPR-Cas9 system to generate melanocytes with the ZEB2 gene knocked down. We found that human epidermal melanocytes with ZEB2 knockdown had reduced total amount of melanin and increased ratio of pheomelanin/eumelanin. Our results indicated the possible involvement of ZEB2 in regulation of melanin chemical phenotype.
Free Research Field	医歯薬学
Academic Significance and Societal Importance of the Research Achievements	ZEB2はメラニン細胞の遊走、分化、増殖に必須の遺伝子であることが知られているが、メラニン色素産生における役割は不明である。本遺伝子の変異が色素フェノタイプ変調を誘導することを証明すれば色素フェノタイプ決定の新たな機構が明らかとなり、色素異常症の治療標的にもなり得る。