| Autor: |
Yoshiro Morimoto, Shinji Ono, Shintaro Yoshida, Hiroyuki Mishima, Akira Kinoshita, Takeshi Tanaka, Yoshihiro Komohara, Naohiro Kurotaki, Tatsuya Kishino, Yuji Okazaki, Hiroki Ozawa, Koh-ichiro Yoshiura, Akira Imamura |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Translational Psychiatry, Vol 11, Iss 1, Pp 1-12 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2158-3188 |
| DOI: |
10.1038/s41398-021-01258-1 |
| Popis: |
Abstract Genetic and epidemiological evidence has suggested that genetic factors are important in schizophrenia, although its pathophysiology is poorly understood. This study used whole-exome sequencing to investigate potential novel schizophrenia-causing genes in a Japanese family containing several members affected by severe or treatment-resistant schizophrenia. A missense variant, chr12:132064747C>T (rs200626129, P2805L), in the E1A-binding protein P400 (EP400) gene completely segregated with schizophrenia in this family. Furthermore, numerous other EP400 mutations were identified in the targeted sequencing of a schizophrenia patient cohort. We also created two lines of Ep400 gene-edited mice, which had anxiety-like behaviours and reduced axon diameters. Our findings suggest that rs200626129 in EP400 is likely to cause schizophrenia in this Japanese family, and may lead to a better understanding and treatment of schizophrenia. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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