An international research collaboration has shed new light on how DNA sequence variation can influence gene activity in the developing human brain. The multi-national team, which was led by researchers at the University of Exeter Medical School, at King's College London, and at Cardiff University in Wales, conducted what was described as the first study of how genetic variation influences DNA methylation, an epigenetic modification that can have direct effects on gene expression and function, in the developing brain. In research published online on November 30, 2015 in Nature Neuroscience and funded by the UK’s Medical Research Council (MRC), the researchers demonstrated the potential utility of such data for refining the genetic signals associated with diseases hypothesized to have a neurodevelopmental component, such as schizophrenia. The article is titled “Methylation QTLs in the Developing Brain and Their Enrichment in Schizophrenia Risk Loci.” [Please also note BioQuick’s coverage of a different schizophrenia epigenetics study also published online on November 30. 2015 in Nature Neuroscience (http://www.nature.com/neuro/journal/vaop/ncurrent/full/nn.4181.html)]. DNA methylation is a chemical modification to one of the four bases that make up our genetic code, controlling when and where genes are expressed. As with other epigenetic marks, it is known to be dynamic across the course of life and modifiable by a number of factors, including the underlying genetic sequence. DNA methylation represents one possible pathway between genetic variation and disease, with genetic differences altering the regulation of gene expression at specific points in development.
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