Schizophrenia is a common, complex, heterogeneous psychiatric syndrome which can have profound impacts on affected individuals and imposes significant burdens on society. Despite intensive research, it has been challenging to understand basic mechanisms and to identify novel therapeutic targets. Given its high heritability and the complexity and inaccessibility of the human brain, much hope has been invested in the application of genomics as a route to better understanding. This work has identified many common and rare risk alleles and laid the foundations for a new generation of mechanistic studies. Genomics has also thrown new light on the relationship between schizophrenia and other psychiatric disorders and revealed its previously unappreciated aetiological relationship with childhood neurodevelopmental disorders, providing further evidence that it has its origins in disturbances of brain development. In addition, genomic findings suggest that the condition reflects fundamental disturbances in neuronal, and particularly synaptic, function that impact broadly on brain function, rather than being a disorder of specific brain regions and circuits. Finally, genomics has provided a plausible solution to the evolutionary paradox of how the condition persists in the face of high heritability and reduced fecundity.
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http://dx.doi.org/10.1098/rsos.230125 | DOI Listing |
J Am Coll Cardiol
March 2025
Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada; Cardiovascular Genetics Centre, Montreal Heart Institute, Montreal, Quebec, Canada. Electronic address:
Background: The clinical impact of genetic testing in a contemporary real-life cohort of patients with heritable cardiomyopathies or arrhythmias is not well defined. Additionally, the genetic spectrum of these conditions in the French-Canadian population is unknown, and interpretation of genetic variants can be challenging because of a known founder effect.
Objectives: This study sought to evaluate the clinical utility of arrhythmia and cardiomyopathy genetic testing and assess the utility of allele frequency data from a local reference population.
BMC Biol
March 2025
The Roslin Institute and Royal (Dick), University of Edinburgh, Edinburgh, EH25 9RG, UK.
Background: Viral nervous necrosis (VNN) is an important viral disease threatening global aquaculture sustainability and affecting over 50 farmed and ecologically important fish species. A major QTL for resistance to VNN has been previously detected in European sea bass, but the underlying causal gene(s) and mutation(s) remain unknown. To identify the mechanisms and genetic factors underpinning resistance to VNN in European sea bass, we employed integrative analyses of multiple functional genomics assays in European sea bass.
View Article and Find Full Text PDFTransgenerational epigenetic inheritance (TEI) describes the process whereby distinct epigenetic states are transmitted between generations, resulting in heritable gene expression and phenotypic differences that are independent of DNA sequence variation. Chromatin modifications have been demonstrated to be important in TEI; however, the extent to which they require other signals to establish and maintain epigenetic states is still unclear. Here we investigate whether small non-coding RNAs contribute to different epigenetic states of the Fab2L transgene in triggered by transient long-range chromosomal contacts, which requires Polycomb complex activity to deposit the H3K27me3 modification for long-term TEI.
View Article and Find Full Text PDFHortic Res
April 2025
Department of Bioresources Engineering, Sejong University, Neungdong-ro 209, Gwangjin-gu, Seoul 05006, Republic of Korea.
The CRISPR-Cas9 system can be used to introduce site-specific mutations into the genome of tomato () plants. However, the direct application of this revolutionary technology to desirable tomato cultivars has been hindered by the challenges of generating transgenic plants. To address this issue, we developed an efficient and heritable genome editing system using tobacco rattle virus (TRV) for an elite tomato cultivar (the paternal line of Saladette).
View Article and Find Full Text PDFNat Genet
March 2025
Greater Bay Area Institute of Precision Medicine, State Key Laboratory of Genetic Engineering, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, China.
Genetic correlation is a key parameter in the joint genetic model of complex traits, but it is usually estimated on a global genomic scale. Understanding local genetic correlations provides more detailed insight into the shared genetic architecture of complex traits. However, a state-of-the-art tool for local genetic correlation analysis, LAVA, is prone to false inference.
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