May 31, 2018

The genes also play a role in neurological disorders, and may provide a path to their treatment

A set of three genes found only in humans appears to play an important role in our large brain size, according to a newly released study. The genes, called NOTCH2NLA, NOTCH2NLB, and NOTCH2NLC, are a type associated with “notch signaling,” a cell signaling system so named because it was first discovered in fruit flies with notched wings. The study is the culmination of five years of research to characterize the genes and understand how they influence not only brain size, but also development. Because of where they are located in the genome, the genes may also be directly implicated in neurological disorders like ADHD, autism spectrum disorder, and schizophrenia. The researchers hope their work could one day lead to new diagnostic tools and treatments. We spoke with study authors David Haussler and Sofie Salama of UC Santa Cruz to learn more.

ResearchGate: What motivated this study?

David Haussler: Researchers specializing in this area are interested understanding which evolutionary changes in our genome underlie human-specific brain features, including our large brain, which is three times larger than that of a chimpanzee. It has been my personal dream to peer into human evolution at the level of individual genes and gene functions.

RG: What are these genes, and what do they do?

Sofie Salama: NOTCH2NL genes are a set of three, nearly identical genes found only in humans that appear to play a critical role in the development of our large brains.

[ Read More ]