| First Author | Morimoto Y | Year | 2021 |
| Journal | Transl Psychiatry | Volume | 11 |
| Issue | 1 | Pages | 132 |
| PubMed ID | 33602898 | Mgi Jnum | J:314990 |
| Mgi Id | MGI:6805481 | Doi | 10.1038/s41398-021-01258-1 |
| Citation | Morimoto Y, et al. (2021) A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models. Transl Psychiatry 11(1):132 |
| abstractText | 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. |
