Molecular pathological analysis of ASD-related gene products in astrocytes
Project/Area Number |
15K14963
|
Research Category |
Grant-in-Aid for Challenging Exploratory Research
|
Allocation Type | Multi-year Fund |
Research Field |
Pharmacology in pharmacy
|
Research Institution | Osaka University |
Principal Investigator |
|
Co-Investigator(Renkei-kenkyūsha) |
HASHIMOTO Hitoshi 大阪大学, 大学院薬学研究科, 教授 (30240849)
HASHIMOTO Ryota 大阪大学, 大学院連合小児発達学研究科, 准教授 (10370983)
KURIU Toshihiko 徳島文理大学, 薬学部, 講師 (10401374)
|
Project Period (FY) |
2015-04-01 – 2017-03-31
|
Project Status |
Completed (Fiscal Year 2016)
|
Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
|
Keywords | 自閉スペクトラム症 / 分子病態 / iPS細胞 / 神経細胞の発達 / ニューロン / アストロサイト / 神経系発達 / iPS細胞関連技術 |
Outline of Final Research Achievements |
The molecular etiology of autism spectrum disorder (ASD) remains poorly understood. Recent studies have found that de novo mutations are likely to be linked to the risk of ASD. Particularly, genes with highly recurrent de novo possible loss-of-function mutations play key roles in ASD. Our laboratory have recently found that several genes, including POGZ and ASD23 have de novo possible ASD-associated mutations. Despite the apparent importance, these mutations have not been functionally analyzed. In this study, we analyzed the functions of these ASD-associated genes as well as the biological significance of these de novo mutations. We found that POGZ regulates neuronal development and that ASD-associated de novo mutations in the POGZ disrupt its DNA-binding activity. Regarding ASD23 gene, we found that ASD23 is highly expressed in astrocytes and regulates neuronal development. These findings provide important insights into the molecular basis of ASD.
|
Report
(3 results)
Research Products
(18 results)
-
[Journal Article] Effect of Clozapine on DNA Methylation in Peripheral Leukocytes from Patients with Treatment-Resistant Schizophrenia.2017
Author(s)
Kinoshita M, Numata S, Tajima A, Yamamori H, Yasuda Y, Fujimoto M, Watanabe S, Umehara H, Shimodera S, Nakazawa T, Kikuchi M, Nakaya A, Hashimoto H, Imoto I, Hashimoto R, Ohmori T.
-
Journal Title
Int J Mol Sci.
Volume: 18
Issue: 3
Pages: 632-632
DOI
NAID
Related Report
Peer Reviewed / Open Access
-
[Journal Article] Differential gene expression profiles in neurons generated from lymphoblastoid B-cell line-derived iPS cells from monozygotic twin cases with treatment-resistant schizophrenia and discordant responses to clozapine.2017
Author(s)
Nakazawa T, Kikuchi M, Ishikawa M, Yamamori H, Nagayasu K, Matsumoto T, Fujimoto M, Yasuda Y, Fujiwara M, Okada S, Matsumura K, Kasai A, Hayata-Takano A, Shintani N, Numata S, Takuma K, Akamatsu W, Okano H, Nakaya A, Hashimoto H, Hashimoto R.
-
Journal Title
Schizophr Res.
Volume: 181
Pages: 75-82
DOI
NAID
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
-
-
-
[Journal Article] Involvement of Brain-Enriched Guanylate Kinase-Associated Protein (BEGAIN) in Chronic Pain after Peripheral Nerve Injury.2016
Author(s)
Katano T, Fukuda M, Furue H, Yamazaki M, Abe M, Watanabe M, Nishida K, Yao I, Yamada A, Hata Y, Okumura N, Nakazawa T, Yamamoto T, Sakimura K, Takao T, Ito S.
-
Journal Title
eNeuro.
Volume: 3
Issue: 5
Pages: 0110-16
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
[Journal Article] Prostaglandin D2 signaling mediated by the CRTH2 receptor is involved in MK-801-induced cognitive dysfunction.2016
Author(s)
Onaka Y, Shintani N, Nakazawa T, Kanoh T, Ago Y, Matsuda T, Hashimoto R, Ohi K, Hirai H, Nagata KY, Nakamura M, Kasai A, Hayata-Takano A, Nagayasu K, Takuma K, Ogawa A, Baba A, Hashimoto H.
-
Journal Title
Behav Brain Res.
Volume: 314
Pages: 477-486
DOI
Related Report
Peer Reviewed / Open Access
-
[Journal Article] De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ.2016
Author(s)
Matsumura K, Nakazawa T, Nagayasu K, Gotoda-Nishimura N, Kasai A, Hayata-Takano A, Shintani N, Yamamori H, Yasuda Y, Hashimoto R, Hashimoto H
-
Journal Title
Journal of Molecular Psychiatry
Volume: 印刷中
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
-
[Journal Article] Emerging roles of ARHGAP33 in intracellular trafficking of TrkB and pathophysiology of neuropsychiatric disorders.2016
Author(s)
Nakazawa T, Hashimoto R, Sakoori K, Sugaya Y, Tanimura A, Hashimotodani Y, Ohi K, Yamamori H, Yasuda Y, Umeda-Yano S, Kiyama Y, Konno K, Inoue T, Yokoyama K, Inoue T, Numata S, Ohnuma T, Iwata N, Ozaki N, Hashimoto H, Watanabe M, Manabe T, Yamamoto T, Takeda M, Kano M.
-
Journal Title
Nat Communications
Volume: 7
Issue: 1
Pages: 10594-10594
DOI
NAID
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
[Journal Article] Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.2015
Author(s)
Hashimoto R, Nakazawa T, Tsurusaki Y, Yasuda Y, Nagayasu K, Matsumura K, Kawashima H, Yamamori H, Fujimoto M, Ohi K, Umeda-Yano S, Fukunaga M, Fujino H, Kasai A, Hayata-Takano A, Shintani N, Takeda M, Matsumoto N, Hashimoto H.
-
Journal Title
Journal of Human Genetics
Volume: 61
Issue: 3
Pages: 199-206
DOI
Related Report
Peer Reviewed / Open Access
-
-
[Presentation] ASD-associated de novo mutations in POGZ impair the DNA-binding activity of POGZ2016
Author(s)
Nakazawa T, Matsumura K, Nagayasu K, Kasai A, Hayata-Takano A, Shintani N, Takuma K, Yamamori H, Yasuda Y, Hashimoto R, Hashimoto H
Organizer
55th Annual Meeting, ACNP
Place of Presentation
Diplomat Resort & Spa, Hollywood, Florida, Hollywood FL USA
Year and Date
2016-12-04
Related Report
Int'l Joint Research
-
-
-
-
-
-
-