Researchers identify genes that determine a person’s facial profile

A research team, headed by the University College London, has discovered genes that establish the shape of an individual’s facial profile.

Man Smiling. Image Credit: WAYHOME studio/Shutterstock.com

The investigators have detected a total of 32 gene regions that govern facial features, like the shape of the jaw, lip, nose, and brows. And they observed that nine of these gene regions were entirely new findings, whereas the others verified genes using previous limited proof.

The researchers have recently published the data analysis of over 6,000 volunteers across Latin America in the Science Advances journal.

Headed by the University College London, Aix-Marseille University, and The Open University, the international research team discovered that one of the genes seems to have evolved from an extinct set of ancient human beings, called Denisovans, who existed tens of thousands of years ago.

The researchers observed that a specific gene called, TBX15 that contributes to the shape of the lip, was associated with genetic data detected in the Denisovan humans, offering some clues to the origin of the gene.

The Denisovan people lived in central Asia, and according to other research works, these humans interbred with modern people, because a few of their DNA was found in Indigenous people of the Americas and Pacific Islanders.

The face shape genes we found may have been the product of evolution as ancient humans evolved to adapt to their environments. Possibly, the version of the gene determining lip shape that was present in the Denisovans could have helped in body fat distribution to make them better suited to the cold climates of Central Asia, and was passed on to modern humans when the two groups met and interbred.”

Dr Kaustubh Adhikari, Study Co-Corresponding Author, Department of Genetics, Evolution and Environment, University College London

Dr Adhikari also works at The Open University.

Dr Pierre Faux from Aix-Marseille University added, “To our knowledge this is the first time that a version of a gene inherited from ancient humans is associated with a facial feature in modern humans. In this case, it was only possible because we moved beyond Eurocentric research; modern-day Europeans do not carry any DNA from the Denisovans, but Native Americans do.”

It is one of only a few studies looking for genes affecting the face in a non-European population, and the first one to focus on the profile only.”

Betty Bonfante, Study Co-First Author, Aix-Marseille University

In the last 20 years, scientists have been able to study intricate genetic information from scores of people only once, because the human genome mapping allowed the use of genome-wide association analyses to determine the associations between genes and traits.

This analysis compared the genetic data obtained from the study participants with features of their facial shape, determined with 59 measurements (ratios, angles, and distances between set points) from the pictures of the participants’ facial profile.

Research like this can provide basic biomedical insights and help us understand how humans evolved.”

Andres Ruiz-Linares, Study Co-Corresponding Author and Professor, Fudan University

Ruiz-Linares also works at the Department of Genetics, Evolution and Environment at the University College London, and at Aix-Marseille University.

The study findings could help figure out the developmental processes that establish facial characteristics, which would help scientists investigating genetic diseases that lead to abnormalities in the face.

The study results also provide a better insight into the evolution of facial appearance in various species, including humans. VPS13B is one of the recently discovered genes detected in the new study and this gene influenced the pointiness of the nose; the team also discovered that the VPS13B influences the structure of the nose in mice, suggesting a widely shared genetic basis among distantly related mammal species.