Deciphering molecular chromatin dynamics at the chromosomal fragile site via genome editing

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K06896
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Genome biology
• Research Institution: Tottori University
• Principal Investigator: Nakayama Yuji 鳥取大学, 生命機能研究支援センター, 助教 (40432603)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 脆弱X症候群 / 染色体工学

Outline of Final Research Achievements

Fragile X syndrome is the most common form of familial intellectual disability, and is caused via expansion (destabilization) of CGG repeat present within the responsible gene FMR1 and gene inactivation accompanying it at the maternal propagation. In the present study, in order to elucidate a series of molecular pathological mechanisms, we tried to establish a system that can monitor the instability of repeat with fluorescence using chromosome engineering technology and genome editing and to identify factors related to it, Fluorescence monitoring system using genome editing failed to obtain the result reflecting the expression pattern of FMR1 originally recognized in humans. However, it was shown that chromosomal engineering operation is a very useful methodology for stable handling of chromosome fragile sites mainly composed of CGG repeats and the like.

Free Research Field

染色体工学