Cell culture model elucidates severe phenotype of female in X-linked disorder

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K08287
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: General medical chemistry
• Research Institution: Fujita Health University
• Principal Investigator: INAGAKI Hidehito 藤田保健衛生大学, 総合医科学研究所, 講師 (70308849)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: X連鎖 / X不活化 / ephrin / 細胞移動

Outline of Final Research Achievements

In Mendelian disorders, X-linked diseases often manifest more severe phenotypes in men than in women. But in craniofrontonasal dysplasia women develop more severe symptoms than men do, so to say a paradox in X-linked diseases. This peculiar phenomenon is believed to be caused by random X inactivation in women, which leads to the mosaicism of normal ligand EFNB1 protein-expressing cells and mutant protein cells that disrupting normal development of embryo. In this research, I established EFNB1-expressing cell lines and observed more severe inhibition of proper cell migration under the mixture of normal cells and mutant cells, which reproduced the more severe phenotype in women in craniofrontonasal dysplasia.

Free Research Field

分子遺伝学