Scientists Map Networks Regulating Gene Function in the Human Brain


NIH-funded research details the ،in’s cellular and molecular regulatory elements and their impact on ،in function


Press Release

A consortium of researchers has ،uced the largest and most advanced multidimensional maps of gene regulation networks in the ،ins of people with and wit،ut mental disorders. These maps detail the many regulatory elements that coordinate the ،in’s biological pathways and cellular functions. The research, supported the National Ins،utes of Health (NIH), used postmortem ،in tissue from over 2,500 donors to map gene regulation networks across different stages of ،in development and multiple ،in-related disorders.

“These groundbreaking findings advance our understanding of where, ،w, and when genetic risk contributes to mental disorders such as ،phrenia, post-traumatic stress disorder, and depression,” said Joshua A. Gordon, M.D., Ph.D., director of NIH’s National Ins،ute of Mental Health (NIMH). “Moreover, the critical resources, shared freely, will help researchers pinpoint genetic v،ts that are likely to play a causal role in mental illnesses and identify ،ential molecular targets for new the،utics.”

The research is published across 15 papers in Science, Science Advances, and Scientific Reports . The papers report findings along several key themes:

  • Population-level ،yses that link genetic v،ts, regulatory elements, and different molecular forms of expressed genes to regulatory networks at the cellular level, in both the developing ،in and adult ،in
  • Single-cell-level maps of the prefrontal cortex from individuals diagnosed with mental disorders and neurodevelopmental disorders
  • Experimental ،yses validating the function of regulatory elements and genetic v،ts ،ociated with quan،ative trait loci (segments of DNA that are linked with observable traits)

The ،yses expand on previous findings, exploring multiple cortical and subcortical regions of the human ،in. These ،in areas play key roles in a range of essential processes, including decision-making, memory, learning, emotion, reward processing, and motor control.

Approximately 2% of the human genome is composed of genes that code for proteins. The remaining 98% includes DNA segments that help regulate the activity of t،se genes. To better understand ،w ،in structure and function contribute to mental disorders, researchers in the NIMH-funded PsychENCODE Consortium  are using standardized met،ds and data ،ysis approaches to build a comprehensive picture of these regulatory elements in the human ،in.

In addition to these discoveries, the papers also highlight new met،ds and tools to help researchers ،yze and explore the wealth of data ،uced by this effort. These resources include a web-based platform offering interactive visualization data from diverse ،in cell types in individuals with and wit،ut mental disorders, known as PsychSCREEN . Together, these met،ds and tools provide a comprehensive, integrated data resource for the broader research community.

The papers focus on the second phase of findings from the PsychENCODE Consortium. This effort aims to advance our understanding of ،w gene regulation impacts ،in function and dysfunction.

“These PsychENCODE Consortium findings shed new light on ،w gene risk maps onto ،in function across developmental stages, ،in regions, and disorders,” said Jonathan Pevsner, Ph.D., chief of the NIMH Genomics Research Branch. “The work lays a strong foundation for ongoing efforts to characterize regulatory pathways across disorders, elucidate the role of epigenetic mechanisms, and increase the ancestral diversity represented in studies.”

The PsychENCODE papers are presented as a collection on the Science website .

Grants

MH116438 , MH116488 , MH116492 , MH116529 , MH117406 , MH116489 , MH117291 , MH117292 , MH117293 , MH129817 , MH116442 , MH121521 , MH122590 , MH122591 , MH122592 , MH122678 , MH122681 , MH126393 , MH122509 , MH125516 , MH126459 , MH129301 

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About the National Ins،ute of Mental Health (NIMH): The mission of the
NIMH
 is to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery and cure. For more information, visit the NIMH website.

About the National Ins،utes of Health (NIH): NIH, the nation’s medical research agency, includes 27 Ins،utes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit the NIH website .

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منبع: https://www.nimh.nih.gov/news/science-news/scientists-map-networks-regulating-gene-function-in-the-human-،in?utm_source=rss_readers&utm_medium=rss&utm_campaign=rss_summary