The "Lost" Genes That Shaped Human Evolution

A recent study by researchers from Yale and the Broad Institute investigates the genetic deletions in the human genome that differentiate humans from other primates, particularly chimpanzees. The team identified about 10,000 small fragments of genetic information that are missing from the human genome but present in other mammals. These deletions, associated with neuronal and cognitive functions such as brain cell formation, became conserved throughout human evolution, implying they conferred a significant biological advantage.

Using Massively Parallel Reporter Assays (MPRA), the researchers screened thousands of genetic variations across different species. They found that the loss of certain sequences, instead of disrupting human biology, led to new genetic instructions that may enhance complex cognitive functions and larger brains. The study emphasizes that, while new genetic additions are often attributed to human uniqueness, the information missing from our genome is equally vital in understanding our evolutionary path. This research provides insights into how deletions of genetic material can lead to adaptations that characterize humankind, reshaping concepts of genetic evolution. The findings were published in the journal Science and contribute to the broader inquiry into genetic diversity across mammalian species.

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