Researchers face to face with genes controlling appearance

Five genes have been linked to key facial features, with potential future uses in forensic science...
16 September 2012


Scientists have uncovered 5 genes linked to facial appearance, with a discovery that might A human skullalso assist in forensic reconstructions of missing persons and criminals.

Writing in PLoS Genetics, Erasmus University researcher Manfred Kayser and his colleagues used MRI data from the upper faces of thousands of individuals from Europe and Australia to derive 48 facial shape features.

The genomes of almost 4000 people were then scrutinised looking for genetic hotspots that matched up reproducibly with the facial shape features identified previously.

Five genetic regions, on chromosomes 1, 2, 3, 5 and 10, were detected and these were tracked down to genes called PRDM16, PAX3, TP63, C5orf50 and COL17A1.

Three of these had been implicated in facial development by other studies, but two of the genes had not previously been linked to appearance. The reserachers acknowledge that the study is limited by the fact that only the upper part of the face was included in their analysis, owing to the constraints of the MRI images used.

However, they also emphasise that they have "uncovered 5 genetic loci that contribute to normal differences in facial shape, representing a significant advance in our knowledge of the genetic determination of facial morphology."


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