Scientists in Kyoto have successfully introduced a Neanderthal gene, specifically a variant of GLI3, into mice using the groundbreaking CRISPR-Cas12a gene-editing technology.
How a Neanderthal GLI3 Gene Shapes Modern Human Traits
In a groundbreaking experiment, scientists from Kyoto Prefectural University of Medicine used the powerful gene-editing technology called CRISPR to insert a tiny but crucial part of ancient human DNA into mice. This DNA comes from our extinct relatives — the Neanderthals and Denisovans. Specifically, they changed a gene known as GLI3, which plays a big role in how bones and organs develop in embryos. The GLI3 gene acts like an instruction manual in our bodies. The goal was to see if this gene variant could explain some unique physical traits seen in Neanderthals.
The Role of the GLI3 Gene
The GLI3 gene influences a developmental system called the Hedgehog signaling pathway. It directs how bones grow and shape during early life. The team introduced a mutated version called R1537C, which existed in Neanderthals and Denisovans but is rare today. By inserting this mutation into mice, they hoped to discover if it truly affected bone structure the way it did thousands of years ago.
Visible Changes in Mouse Skeletons
The results were fascinating. Mice that carried this ancient gene showed remarkable changes: wider skulls, fewer vertebrae, twisted rib cages, and spinal curvatures similar to traits found in Neanderthal fossils. However, the mutation didn’t disrupt vital functions like protein stability or growth signals; instead, it subtly altered the way certain genes behaved during development.
A Link Between Ancient and Modern Humans
You might be surprised to learn that this Neanderthal variant of GLI3 can still be found in some groups of people today. In fact, many people outside Africa carry small pieces of DNA inherited from Neanderthals or Denisovans due to ancient interbreeding tens of thousands of years ago.
This discovery helps us understand how our genes connect us to these extinct human species. It also shows how certain gene versions have survived because they provide some advantages or are harmless enough to stay in our genetic code.
The Impact on Human Anatomy
Scientists used genome-edited mice to study what happens when the Neanderthal version of GLI3 is present. These mice showed differences in their skeletal features depending on their genetic background. This suggests that such genetic changes contribute to unique traits among different human groups.
The Science Behind the Findings
Does the Mutation Harm Protein Function?
The big question was whether this mutation makes the GLI3 protein faulty or less stable. Surprisingly, experiments demonstrated that the mutated GLI3 protein is just as stable and works almost normally when activating certain cellular signals involved in development.
Affecting Gene Regulation Without Breaking Processes
Instead of breaking things, this mutation subtly shifts how downstream genes are regulated during development. This fine-tuning can result in noticeable but not harmful changes in body structure. Some differences may even have helped ancient humans adapt better to their environments.
An Ancient Mutation That Persists Today
Depending on population groups, the R1537C variant appears at low frequencies, between about 0.8% and 7.7%. Although predicted computationally to be harmful, experimental evidence shows it keeps core gene functions intact while gently influencing bone development genes such as STC1 and H4C3. This hints at how ancient biology lingers within us today, fueling curiosity about our deep past.
Skeletal Traits Reflecting Our Ancestors’ Biology
The modified mice’s skull enlargements, scoliosis-like spinal curves, and rib distortions reflect specific traits observed in Neanderthals through fossil records. These links between genetics and anatomy provide fresh clues about how evolutionary pressures shaped our ancestors’ bodies through genetic drift or possibly natural selection.
The Future of Ancient DNA Research
This study emphasizes the power of modern genetic engineering techniques in understanding our evolutionary past. Further research may reveal more connections between ancient genes and our present-day characteristics. The study also shows the need for research into the complex interplay of genes and adaptation in the evolutionary process.
Reference
- Agata, A., Ohtsuka, S., Noji, R., Gotoh, H., Ono, K., & Nomura, T. (2023b). A Neanderthal/Denisovan GLI3 variant contributes to anatomical variations in mice. Frontiers in Cell and Developmental Biology, 11. https://doi.org/10.3389/fcell.2023.1247361
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Neha Adikane holds a Master’s degree in Environmental Science from Pune University, bringing a unique blend of scientific expertise and creative writing skills to her craft. She specializes in creating engaging, insightful, and impactful content across various niches. With a passion for translating complex ideas into simple, relatable narratives, she excels at crafting blogs, articles, website content, and social media posts that captivate readers and drive engagement. Neha’s background in environmental science adds depth to her writing, allowing her to effectively cover topics related to sustainability, eco-awareness, and scientific innovations.
