molecular analysis of Prader-Willi syndrome model mice with imprinting mutation

2016 Fiscal Year Final Research Report

• Project/Area Number: 25461555
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Nagasaki University
• Principal Investigator: KISHINO Tatsuya 長崎大学, 先導生命科学研究支援センター, 准教授 (70315232)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: プラダーウィリー症候群 / インプリンティング / モデルマウス / DNAメチル化 / トランスジェニックマウス / Necdin / Mkrn3

Outline of Final Research Achievements

We created Prader-Willi syndrome (PWS) model mice, which show neonatal lethality because of abnormal DNA methylation on the PWS imprinting center (IC). We analyzed molecular mechanism of establishment of genomic imprinting in gametes and early embryos using our PWS model mice. We found that the main epigenetic factor which could affect gene expression in the imprinted region is genomic constitution and next DNA methylation after implantation. To recue neonatal lethality in PWS model mice, we created Ndn and Mkrn3 transgenic mice, but both of them could not rescue the PWS model mice.

Free Research Field

小児神経学