Genetics of human face begin to reveal underlying profile | Penn State University

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The genetics behind the shape of the human face are difficult to decipher, but now an international team of researchers has connected specific genetic signals with specific areas of the face. They not only can see the signals of normal facial features in the genome, but also hope their work can shed light on craniofacial malformations such as cleft lip and palate.
UNIVERSITY PARK, Pa. —

"The face tells the outside world about your identity, who you are related to, where your ancestors come from and even your health," said Julie White, graduate student in anthropology, Penn State. "But we only know a fraction of how faces are formed. The facial structure comes together in early development, and if it doesn't go right, you can get a cleft palate or other problem, but we don't fully know what controls those processes."

In many cases of facial dysmorphology there are limited numbers of subjects, making location and identification of errant genetics difficult. However, White believes that if researchers knew the genetic location for normal range lip formation, that location might be a site contributing to malformations of the lip.

Another area where understanding the genetics of normal facial structure can help is in understanding the evolution of the face.

"I personally don't do much work in this area, but Mark Shriver (professor of anthropology, Penn State) does and he asks, why do people look different?" said White. "What makes up the differences in various groups? Is it selection, genetic drift or something else?"

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.

The researchers used two data sets, 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. They report their findings today (Dec. 7) in Nature Genetics.

"Collaborations in jointly analyzing multiple datasets in combinations with…
A'Ndrea Elyse Messer
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