A side-view digital illustration of a human head showing a translucent profile with an anatomically detailed brain highlighted in blue against a black background.
Researchers have used a new human reference genome, which includes many duplicated and repeat sequences left out of the original human genome draft, to identify genes that make the human brain distinct. (Getty Images)

Finding Human Brain Genes in Duplicated DNA

  • by Andy Fell

What makes the human brain distinctive? A new study published July 21 in Cell identifies two genes linked to human brain features and provides a road map to discover many more. The research could lead to insights into the functioning and evolution of the human brain, as well as the roots of language disorders and autism.

The newly characterized genes are found among the “dark matter” of the human genome: regions of DNA that contain a lot of duplicated or repeat sequences, making them difficult to study until recently. If assembling a DNA sequence is like putting together a book from torn-up pages, reconstructing it from repeat sequences would be like trying to match pages using only words like “and” and “the.” There are many opportunities for mismatches and overlap.

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