Gene activity and function in the human brain: how enhancers are linked to autism

Brain study reveals insights into genetic basis of autism

Color-and-Shapes
This study is the first to investigate how the activity of enhancers and genes are coordinated in the human brain, and the first to show that brain enhancers are linked to autism. Color and Shapes image by Brian Talbot.

2015 Study Abstract

Despite major progress in identifying enhancer regions on a genome-wide scale, the majority of available data are limited to model organisms and human transformed cell lines.

We have identified a robust set of enhancer RNAs (eRNAs) expressed in the human brain and constructed networks assessing eRNA-gene coexpression interactions across human fetal brain and multiple adult brain regions.

Our data identify brain region–specific eRNAs and show that enhancer regions expressing eRNAs are enriched for genetic variants associated with autism spectrum disorders.

Sources and more information
  • Coexpression networks identify brain region–specific enhancer RNAs in the human brain, Nature Neuroscience, doi:10.1038/nn.4063, 13 July 2015.
  • Brain study reveals insights into genetic basis of autism,
    MedicalXpress, July 13, 2015.

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