Every face is unique, but how exactly do our facial features develop? Recent research is shining a light on this by using insights from our ancient relatives, the Neanderthals. Known for their distinctive looks—like broad noses and strong jaws—they provide clues about the genetic factors that shape our faces today.
A team at the University of Edinburgh’s MRC Human Genetics Unit is diving into Neanderthal DNA to uncover secrets about facial development. Their study, published in the journal Development, highlights how a specific Neanderthal DNA region activates a gene involved in jaw formation more effectively than its modern human counterpart. This could help explain why Neanderthals had larger jaws.
Hannah Long, who led the research, emphasizes that the Neanderthal genome is incredibly similar to ours—99.7%. The small differences likely create visible traits, including how our faces look. With about 3 billion DNA letters to analyze, finding the regions that affect our appearance is like searching for a needle in a haystack.
The researchers focused on a genome region linked to Pierre Robin sequence, a condition where the jaw is notably small. They noted that differences in this area could impact face shape subtly. By comparing human and Neanderthal genomes, they discovered only three minor variations in a 3,000-letter region, which is critical for regulating the gene SOX9, essential for facial development.
To validate their findings, the team performed experiments using zebrafish. They inserted both human and Neanderthal DNA into the fish and monitored jaw development. The results were fascinating. The Neanderthal DNA fired up the jaw-forming process more than the human version.
Long expressed excitement about these findings: “We were thrilled to see clear activity in the zebrafish face’s developing cells.” She notes that the enhanced activity of the SOX9 gene suggests the Neanderthal variant could lead to different jaw shapes.
Looking forward, Long and her team are keen to explore other DNA differences that may influence facial traits. Their aim is to better understand facial development in people, especially regarding conditions that affect it.
This research not only reveals how studying Neanderthals can enlighten our understanding of genetic factors in facial variations but it also opens doors for potential medical advancements. With facial shape linked to various syndromes, such insights could lead to improved diagnostics.
In summary, our ancient relatives hold valuable secrets about our own biology. As we continue to unlock these mysteries, we might discover more about both human evolution and the genetic underpinnings of our diverse appearances.
For more detailed findings, check the original study in Development: DOI: 10.1242/dev.204779.
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