pathophysiology of DUSP22 and MTNR1 gene abnormalities

2020 Fiscal Year Final Research Report

• Project/Area Number: 17K16294
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Institute for Developmental Research Aichi Developmental Disability Center
• Principal Investigator: HAMADA NANAKO 愛知県医療療育総合センター発達障害研究所, 分子病態研究部, 研究員 (70721835)
• Project Period (FY): 2017-04-01 – 2021-03-31
• Keywords: 自閉スペクトラム症

Outline of Final Research Achievements

We examined the role of MTNR1A, 1B and DUSP22 in brain development and the pathophysiological significance of these gene abnormalities. Information of tissue and subcellular distribution of Dusp22 is largely unknown while information on the quality of commercially available antibodies is very limited. Therefore, we here produced a rabbit polyclonal antibody specific for Dusp22 and performed expression analyses of the molecule. While western blotting analyses clarified that Dusp22 was dominantly expressed in heart and skeletal muscle. Dusp22 was diffusely distributed in the cytoplasm and partially colocalized with actin cytoskeleton. Silencing of DUSP22 prevented dendrite development in cortical pyramidal cells in vivo. Knockdown of MTNR1A and 1B did not affected cell morphology.

Free Research Field

大脳皮質形成

Academic Significance and Societal Importance of the Research Achievements

これまで全く不明であった自閉症関連遺伝子DUSP22のマウス発達期の組織ごとの発現や細胞内局在について詳細に示すことができた。