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Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with
Soheil Yousefi1, Ruizhi Deng1, Kristina Lanko1
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Genome Medicine
|October 19, 2021
Summary
Researchers identified thousands of dynamic enhancers crucial for human brain development. These non-coding regulatory elements (NCREs) are linked to neurodevelopmental disorders, offering insights into genetic brain diseases.
Area of Science:
- Genomics
- Neuroscience
- Developmental Biology
Background:
- Non-coding regulatory elements (NCREs), like enhancers, are vital for gene regulation.
- Genetic changes in NCREs can cause human diseases, particularly brain disorders.
- Understanding NCREs in brain development may reveal new genetic causes of unexplained brain diseases.
Purpose of the Study:
- To computationally analyze human fetal brain epigenome data.
- To identify functional NCREs involved in early human brain development.
Main Methods:
- Integrative computational analysis of human fetal brain epigenome data.
- Identification and characterization of differentially active enhancers (DAEs).
- Functional validation in cell models and zebrafish.
Main Results:
- Discovered 39,709 differentially active enhancers (DAEs) with dynamic epigenomic rearrangement during early human brain development.
- DAEs are linked to clinically relevant genes and show distinct sequence characteristics and transcription factor binding.
- DAEs are enriched for GWAS loci for brain traits and genetic variations in neurodevelopmental disorders, including autism.
Conclusions:
- This compendium of high-confidence enhancers aids in understanding human brain developmental genetics.
- Findings are relevant for uncovering the genetic basis of human brain disorders and missing heritability.
