日本語

 

Update(MM/DD/YYYY):12/10/2019

New Clue to the Cause of Gender-Specific Diseases

– Use of epigenetics to solve mysterious inheritance patterns that cannot be explained by Mendel's law –


Researcher: KOBAYASHI Shin, Senior Researcher, Functional Proteomics Team, Molecular Profiling Research Center for Drug Discovery

Points

  • Discovery that a disease manifesting only in females occurs due to abnormality of X-chromosome inactivation
  • Identification of Ftx long non-coding RNA as a key factor for X-chromosome inactivation mechanisms
  • Expected to help identify the etiology of gender-specific human diseases that have been difficult to explain thus far
Figure
Abnormal eye inheritance pattern exhibited by Ftx knock-out (KO) mice (pedigree chart)


Background

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.

Summary

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.







▲ ページトップへ