The genes are there
Scientists have identified about two hundred DNA sites associated with the shape of the face
Thanks to this, scientists hope to understand exactly how the human face is formed
Comparing sets of small mutations in the DNA of more than eight thousand people of European origin helped scientists to identify two hundred sites in their genomes that affect the shape of the face. An article with the results of the study was published by the scientific journal Nature Genetics (White et al., Insights into the genetic architecture of the human face).
"We tried to get an answer to a simple question: why do all people look different and what causes these differences - natural selection, random mutations or some other processes? For example, we took the genomes of people with upturned noses and tried to understand what unites them," commented Julia White, an anthropologist from the University of Pennsylvania (USA) and one of the authors of the study.
In recent years, geneticists and molecular biologists have become actively interested in genes that affect or determine the appearance and shape of various facial and body features, including height, weight, tendency to fullness, physical strength and many other human characteristics. Scientists' interest in them is due to the fact that violations in the work of these DNA sites lead to the development of congenital diseases and serious developmental defects.
As the discoveries of recent years show, the number of such genes is approaching several hundred or even thousands. For example, scientists have recently discovered that four genes at once – PAX1, DCHS2, RUNX2 and GLI3 – control the shape of the nose, and the sharpness of the chin depends on one gene, EDAR.
White and her colleagues discovered two hundred more similar sections of DNA using two unique databases that combined the complete genomes of about eight thousand residents of Britain and the United States, as well as accurate three-dimensional copies of their faces.
Drawing from the Penn State Genetics of human face press release begin to reveal underlying profile – VM.
Genetics of beauty
Taking advantage of this opportunity, the scientists compared sets of small mutations in the genomes of the participants in these studies with where there were specially selected seven thousand points on the surface of their faces. In total, they were able to identify over 17.6 thousand variations in DNA that somehow influenced the appearance of a person, 11.4 thousand of which turned out to be statistically significant.
Having analyzed their location inside the genomes and the degree of influence on the shape and facial features, geneticists identified two hundred variations whose effect on the human appearance was as noticeable as possible. A significant part of them, about 89 variations, were in genes that were already associated with the shape of the face and the appearance of the human body, and another 61 mutations were already associated with disorders in the development of the head in humans or mice.
For example, the WARS2 and TBX15 genes have already been associated with the height of the forehead and the presence of a dimple on the chin, and mutations in the MSX1 gene – with the appearance of a "cleft lip" and other disorders in the development of teeth and jaws. On the other hand, over 50 DNA sites discovered by White and her colleagues had not previously been associated with facial features or anatomical abnormalities.
Further study of the role of these genes in animal experiments and cell cultures, as the researchers hope, will reveal their role in shaping the appearance of the human face and the development of various disorders associated with the anatomy of the skull and soft tissues of the human head. This information, in turn, will be useful not only for the diagnosis of diseases and the creation of gene therapies for their treatment, but they will also help anthropologists understand how people acquired their current appearance, White summed up.
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