Epigenetics is a new research field that targets phenomena that cannot be explained by traditional genetics. Regulation of gene expression by epigenetics is deeply involved with life science research topics that are currently attracting attention, such as ontogeny, creation of cloned animals by nuclear transfer, and reprogramming when creating induced pluripotent stem (iPS) cells. However, there are many unclear points regarding its physiological importance and control mechanism, and clarification of those points has been anticipated.

In collaboration with Tokyo Medical and Dental University, the researcher identified Ftx long non-coding RNA as a critical factor for X-chromosome inactivation, which is a type of gene expression regulation that does not involve changes in DNA.

Ftx-deficient mice (Ftx knock-out mice) were used to demonstrate that only female knock-out mice exhibited abnormal eye formation. In addition, abnormality of X-chromosome inactivation was identified and the mechanism by which the disease occurs only in females was clarified. It is expected that these results will help identify the etiology of gender-specific human diseases that have been difficult to explain thus far.