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First Atlas of Functional DNA Changes Offers Clues to What Makes Us Human

First Atlas of Functional DNA Changes Offers Clues to What Makes Us Human
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Researchers have developed a new genetic atlas that identifies specific DNA differences between humans and chimpanzees that affect gene activity. This study provides insights into human evolution and the genetic origins of certain skeletal disorders.

Why it matters

Understanding the genetic basis of human traits and vulnerabilities can lead to breakthroughs in medical research and evolutionary biology.

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A new genetic atlas is helping scientists trace the DNA changes that transformed a shared primate ancestor into modern humans.

For the first time, researchers can systematically test which genetic differences between humans and chimpanzees affect gene activity.

The study, published in Nature , grew out of a collaboration among researchers at McGill University, Kyoto University and the Weizmann Institute of Science.

"Human and chimpanzee genomes are more than 98 per cent identical, but until now we had no way to know which genetic differences had meaningful biological effects," said first author Yizhi Yan, a PhD student in the Kyoto-McGill International Collaborative Program in Genomic Medicine.

Understanding those changes could reveal not only how humans evolved, but also why some diseases arise in the first place.

As a first test of the atlas, researchers examined the effect of hundreds of thousands of DNA differences on gene expression in skeletal cells.

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