- Specific genes allow viewing normal facial features in the genome
- This could design technology that would offer profound insights into mechanisms for facial dysmorphologies like cleft lip or palate
- The new evidence would also help one to dig deeper into their ancestral evolution
Specific genetic signals allow viewing normal facial features in the genome that would shed light on craniofacial malformations such as cleft lip and palate, as per an international team of researchers, Penn State.
The face reveals an individual's identity along with their ancestral evolution and health status. The genetics behind the shape of the human face remains difficult to decipher. This is significantly contributed by limited numbers of subjects to study facial dysmorphology.
Genetics of faceTwo data sets were analyzed by the researchers - one from the Avon Longitudinal Study of Parents and Children in the U.K., containing 3,566 individuals, and one from the U.S., containing 4,680 individuals.
All subjects had highly detailed 3D facial photographs and the researchers placed over 7,000-point locations on the images using a gridded mask that was digitally stretched and pulled to conform to the facial contours of each individual.
He also divided the face into 63 segments using data-driven relationships to avoid pre-existing ideas of which facial areas were important and allowing the researchers to look at the variation in small subsets of the face.
Both the datasets were analyzed separately, and they varied the search to replicate genetic sites associated with facial features.
Extensive set of locations in the DNA that play a role in the development of the human face were revealed. It was also observed that there was overlap among the genes of the face and other parts of the body. This answer why certain facial deformities are associated with other physical problems.
The researchers note that another possible use for their work is in forensics, but there is a long way to go until DNA facial reconstruction can be legal evidence.
Of the 203 genetic locations identified as significant for facial structure, 89 had already been found from other studies, either using the same data or with independent data. They also found 61 locations that were already implicated as the source of facial malformations facial malformations in humans or mice. 53 locations were completely new to this study.
"Our post-analyses provide us with additional evidence, for example, the epigenetic analyses showed that the genetic regions we found get expressed in cells relevant for craniofacial development. We have tagged locations that can be interesting for wet labs to validate and further investigate their exact functions", said Karlijne Indencleef, a graduate student in biomedical sciences at KU Leuven, Belgium.