Elucidation of the onset mechanism of human imprinting disorders using the method of methylation analysis with high-density DNA methylation arrays

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K15096
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Human genetics
• Research Institution: National Center for Child Health and Development
• Principal Investigator: Kagami Masayo 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 室長 (70399484)
• Co-Investigator(Kenkyū-buntansha): 中林 一彦 国立研究開発法人国立成育医療研究センター, 周産期病態研究部, 室長 (10415557) ; 松原 圭子 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (90542952)
• Co-Investigator(Renkei-kenkyūsha): TAKADA SHUJI (20382856)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: エピジェネティクス / インプリンティング / DNAメチル化

Outline of Final Research Achievements

Patients with multiple imprinting disturbance (MLID) show abnormal methylation levels in the multiple differentially methylated regions (DMRs), however, the frequencies, onset mechanism, and clinical features of MLID remain to be clarified. We screened 1300 patients with imprinting disorders by methylation analysis using pyrosequencing and detected 38 patients with MLID. Furthermore, we examined methylation levels of 43 DMRs using high-density DNA methylation arrays in 5 patients with Kagami-Ogata syndrome caused by epimutation and 4 patients with Temple syndrome (TS14) caused by epimutation. We detected first TS14 patients with MLID.

Free Research Field

人類遺伝学、小児科学