| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| 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.
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