Neuron: Many of the fastest-evolving human genes are related to evolutionary changes in brain development

"Perhaps one of the most interesting questions in neuroscience is,'What makes us humans?'" said Christopher Walsh (@chrisawalsh1) of Harvard University and the Allen Center for the Discovery of Human Brain Evolution

In order to systematically identify which of the 3171 previously identified hars is most likely to contribute to the recent evolution of the human cerebral cortex, the researchers examined the regulation of these regions in a variety of human and mouse cell types and tissues.

"We know that entering this study, many mysterious sacred sites may function as regulators of gene expression in the brain, but we rarely understand their cell types in the brain, where, or when human life spans," Allen explained Degen Na Luo (@ViolinPlots), one of the first authors of the study, Walsh Laboratories

To overcome the limitations of earlier methods, Walsh and his colleagues developed a practical method called CaptureMPRA

They also integrated these data with the epigenetic data of human fetal nerve cell HARs to identify HARs that seem to play an important role in guiding the development of specific human brains

Researchers report that, in general, the new findings indicate that many HARs do indeed act as neurodevelopmental promoters

The researchers also showed that, in particular, a har regulatory gene called PPP1R17 has experienced cell types and developmental expression patterns between non-primates and primates, and between non-human primates and humans.

These new findings define many HARs that play a key role in neuronal gene regulation programs; according to the researchers, nearly half of HARs show replicable chromatin accessibility and enhancer activity in nerve cells and tissues

Walsh said: "Our work has made important progress in studying multiple genomic regions at the same time, helping us piece together a very complex but convincing picture of the evolution of the human brain

Journal Reference :

1. Kelly M.