the MBD5 gene cause the clinical features of neurodevelopmental disorder

2016 Fiscal Year Final Research Report

• Project/Area Number: 26460409
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human genetics
• Research Institution: Kanazawa University
• Principal Investigator: Meguro Makiko 金沢大学, 学際科学実験センター, 博士研究員 (20304222)
• Co-Investigator(Renkei-kenkyūsha): HORIKE Shin-ichi 金沢大学, 学際科学実験センター, 准教授 (40448311) ; ITOH Masayuki 独立行政法人国立精神・神経医療研究センター・神経研究所, 疾病研究第二部, 室長 (50243407)
• Research Collaborator: HOTTA Akitsu
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 発達障害 / 自閉症 / エピジェネティクス

Outline of Final Research Achievements

The incidence of autism spectrum disorders (ASD) has increased dramatically over the past decade. However, for at least 70% of ASD cases, the underlying genetic cause remain unknown.Recent whole-genome microarray studies have revealed that deletion or duplication at 2q23.1 includes MBD5, a methyl-DNA binding protein that is a causative gene of ASD. In this study, we first targeted the MBD5 gene in the SH-SY5Y cells, using two pairs of ZFNs. Then we examined the microarray analysis in MBD5+/- cells. The results indicates that MBD5 may have a crucial role of non-coding RNA expression.

Free Research Field

分子生物学