The enigma of when and how humanity began to speak has been a core question in anthropology and neuroscience for decades. Researchers from Rockefeller University have recently suggested that a single protein mutation, known as NOVA1, might have played a crucial role in shaping the language abilities of modern humans, opening new horizons in the study of language evolution. The research team discovered that NOVA1 is one of the genetic characteristics distinguishing humans from Neanderthals and that it became widespread under strong selection pressure after modern humans diverged from them approximately 300,000 years ago.

Particularly, the NOVA1 mutation is directly associated with neural circuitry formation, which could have enabled the complex language and communication abilities unique to humans. Scientists now consider NOVA1 not only as a key factor in human language evolution but also as a significant clue for developing treatments for language disorders and neurodevelopmental disorders.
Language is one of the most distinctive features that separates humans from other animals. While the evolution of language has long been speculated to be related to complex social environments and increases in brain size, this study suggests that a single genetic mutation may have had a significant impact on the development of human language capabilities.
Analyzing 650,000 modern human genomes, researchers confirmed that the NOVA1 mutation (I197V) is present in almost all modern humans but absent in Neanderthals and Denisovans. This mutation resulted from a single amino acid change (isoleucine to valine) and likely became a characteristic of modern humans through strong natural selection.

The researchers analyzed that the NOVA1 mutation is not just a simple genetic modification but might have altered brain neural networks, directly affecting vocal learning and language expression. This implies that language evolution was driven not only by environmental factors but also by genetic elements.
To enhance the credibility of this study, the researchers conducted experiments on genetically modified mice. They replaced the mouse NOVA1 gene with the human variant and observed whether there was a change in the mice’s vocalization.
The results showed that mice with the human NOVA1 made much more complex and varied ultrasonic sounds than regular mice. Mice are known to communicate using ultrasound, and changes in their vocalization patterns provide strong evidence that this gene indeed affects language and communication abilities.
Furthermore, the researchers confirmed that the NOVA1 mutation regulates connections between neurons and alters neural networks related to language. This strongly suggests that the development of human language abilities was influenced not only by social and cultural factors but also by molecular genetic changes.
The significance of the NOVA1 research extends beyond language evolution. The NOVA1 gene is closely linked to autism spectrum disorders, developmental language disorders, and neuromuscular control abnormalities.
In one case study analyzed by the researchers, a child with only one copy of the NOVA1 mutation experienced severe language and motor developmental delays and exhibited symptoms of autism spectrum disorder. This case provides strong evidence that the NOVA1 mutation is essential for normal language and motor development.

This research holds not only academic significance but also practical implications as it opens new possibilities for identifying and treating the causes of autism and other language disorders. If a gene therapy targeting NOVA1 is developed, it could offer new hope to patients with language-related disorders for which there is currently no cure.
The NOVA1 study suggests a new answer to the questions of when humanity began to speak and what drove it. The possibility that a single genetic mutation can explain the origins of human language capabilities represents a groundbreaking discovery in genetic and neuroscientific research.
Currently, scientists are working to expand NOVA1 research, and several key research directions have been proposed.

◎ Comparative study with other mammals
Analyzing how NOVA1 functions in primates, the species closest to humans, to deeply investigate the evolutionary origins of human language.
◎ Research on treatments for neurodevelopmental disorders
Exploring the relationship between NOVA1 and autism, developmental disorders, and the potential for developing gene therapy and personalized treatments.
◎ Integration with Artificial Intelligence (AI)
Utilizing data mapping NOVA1’s impacts on human language development to improve the principles of AI language models.
These studies are anticipated to not just illuminate the origins of human language but also contribute practically to research in treating neurodevelopmental disorders and AI language development.
Could NOVA1 unlock the secrets of language?
The NOVA1 research goes beyond satisfying scientific curiosity and holds the potential for providing practical solutions to those suffering from language disorders in modern society.

If this gene can be used to treat autism and developmental language disorders, it might change the paradigm for treating neurodevelopmental disorders in the future. Additionally, AI researchers also believe that NOVA1 could aid in understanding the human language acquisition process and neural network structures.
The evolution of language in humankind still holds many mysteries. But the NOVA1 gene appears to offer a significant clue. Language is a decisive factor that makes humans truly human, and we are now entering an era where we can understand its origins more deeply.