News Releases & Research Results The acquired mechanisms underlying the loss of the Y chromosome ―Phenomena associated with cellular aging and tumorigenesis based on DNA data―

The results of R&D by an international collaborative research group of Team Leader Chikashi Terao, Visiting Principal Researcher Yoichiro Kamatani (Professor of the Graduate School of Frontier Sciences, the University of Tokyo) of the Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, and others.

• This research identified genetic mechanisms underlying the phenomenon that the cells which have lost the Y chromosome increase in blood (mLOY: mosaic loss of chromosome Y), blood cell differentiation, and transcription factors (proteins that bind to the transcriptional regulatory region of DNA in a sequence-specific manner).
• On specifically analyzing DNA microarray data of 95,000 Japanese men enrolled in the Biobank Japan Project, we newly identified 31 genomic loci associated with mLOY (including those unique to the Japanese population).
• Furthermore, the transcription factor mLOY (FLI1) and indices of potential mLOY markers were identified.
• These results are expected to contribute to advancements in basic clinical studies to identify the mechanisms of underlying chromosomal changes associated with aging and tumorigenesis and in clinical studies to predict the loss of the Y chromosome.

This project was conducted with the support of the "Tailor-Made Medical Treatment with the BioBank Japan Project" by AMED.

The results of research were published in Nature Communications, a British online scientific journal, on October 17.

Terao C., et al. GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation Nature Communications
DOI：10.1038/s41467-019-12705-5