CNVs in Three Psychiatric Disorders

BACKGROUND: We aimed to determine the similarities and differences in the roles of genic and regulatory copy number variations (CNVs) in bipolar disorder (BD), schizophrenia (SCZ), and autism spectrum disorder (ASD). METHODS: Based on high-resolution CNV data from 8708 Japanese samples, we performed to our knowledge the largest cross-disorder analysis of genic and regulatory CNVs in BD, SCZ, and ASD. RESULTS: In genic CNVs, we found an increased burden of smaller (500 kb) exonic CNVs in SCZ/ASD. Pathogenic CNVs linked to neurodevelopmental disorders were significantly associated with the risk for each disorder, but BD and SCZ/ASD differed in terms of the effect size (smaller in BD) and subtype distribution of CNVs linked to neurodevelopmental disorders. We identified 3 synaptic genes (DLG2, PCDH15, and ASTN2) as risk factors for BD. Whereas gene set analysis showed that BD-associated pathways were restricted to chromatin biology, SCZ and ASD involved more extensive and similar pathways. Nevertheless, a correlation analysis of gene set results indicated weak but significant pathway similarities between BD and SCZ or ASD (r = 0.25–0.31). In SCZ and ASD, but not BD, CNVs were significantly enriched in enhancers and promoters in brain tissue. CONCLUSIONS: BD and SCZ/ASD differ in terms of CNV burden, characteristics of CNVs linked to neurodevelopmental disorders, and regulatory CNVs. On the other hand, they have shared molecular mechanisms, including chromatin biology. The BD risk genes identified here could provide insight into the pathogenesis of BD

Experimental Challenges of the First Mass Measurement Campaign at the Rare-RI Ring

With the recent commissioning of the Rare-RI Ring (R3), nuclear mass measurement of rare isotopes (RIs) produced at the RI Beam Factory (RIBF) at RIKEN has become possible. The R3 spectrometer is based on the Isochronous Mass Spectrometry technique that allows for reaching a mass measurement precision of 10−6 within less than 1 ms. With the newly established self-triggered individual injection method, R3 specialized in mass measurements of extremely short-lived nuclei with low production yields. In this paper, we report the first mass measurement campaign conducted at the R3 addressing nuclei in the vicinity of N=50 and N=82 neutron magic numbers, with a particular focus on the challenges of this new facility