Structural variants in DNA are associated with unique human traits

A new study has found that structural variants in human DNA may have played a role in the evolution of uniquely human features, particularly the brain.

The study, led by researchers at Gladstone Institutes and published in the journal Science, found that many HARs, or human accelerated regions, are located in areas of the genome that have large structural differences when compared with other mammals.

HARs are short stretches of DNA that regulate the activity of genes related to brain development.
The researchers believe that the structural variants around HARs may have changed the way the DNA folded, which could have led to changes in the activity of the genes that HARs regulate.

These changes, in turn, could have led to the evolution of uniquely human features, such as our large brains and complex cognitive abilities.

“This is an exciting finding that provides new insights into the evolution of human cognition,” said Katie Pollard, director of the Gladstone Institute of Data Science and Biotechnology and lead author of the study.

“We now have a better understanding of how structural variants in the genome may have contributed to the development of our uniquely human brain,” Dr Pollard said.
he study’s findings could have implications for the treatment of neurodevelopmental disorders, such as autism and schizophrenia.

These disorders are thought to be caused by disruptions in brain development, and the researchers believe that understanding the role of structural variants in brain development could lead to new treatments for these disorders.

The study’s findings also highlight the importance of studying the human genome to understand our own evolution.

As we continue to learn more about the human genome, we will gain a better understanding of what makes us human and how we evolved to be the way we are.