Scientists Chart Networks Governing Gene Activity in the Human Brain

The most comprehensive and sophisticated multidimensional maps of gene regulation networks in the brains of individuals with and without mental illnesses have been created by a group of researchers. The numerous regulatory components that orchestrate the brain’s cellular processes and physiological pathways are depicted in depth in these maps. The National Institutes of Health (NIH) funded the research, which mapped gene control networks across several brain-related illnesses and phases of brain development using postmortem brain tissue from over 2,500 donors.

“These novel discoveries enhance our comprehension of the locations, mechanisms, and timing of genetic susceptibility to psychological conditions like depression, schizophrenia, and PTSD,” stated Joshua A. Gordon, M.D., Ph.D., the director of the National Institute of Mental Health (NIMH), a branch of the National Institutes of Health. “Moreover, the critical resources, shared freely,willhelp researchers pinpoint genetic variants that are likely to play a causal role in mental illnesses and identify potential molecular targets for new therapeutics.”

The research, published in 15 papers in Science, Science Advances, and Scientific Reports, explores the link between genetic variants, regulatory elements, and gene expression in the developing and adult brains, as well as the function of quantitative trait loci.

The analyses build on prior findings by investigating numerous cortical and subcortical regions of the human brain. These brain areas are involved in a variety of important activities, including decision-making, memory, learning, emotion, reward processing, and motor control.

Protein-coding genes account for around 2% of the human genome. The remaining 98% consists of DNA sequences that assist regulate the activation of those genes. To better understand how brain structure and function contribute to mental diseases, researchers in the NIMH-funded Psych ENCODE Consortium are developing standardized techniques and data processing tools to create a comprehensive picture of key regulatory elements in the human brain.

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