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Researchers Provide New Insights into Why Each Human Face is Unique

Human face is as unique as a fingerprint—no one else looks exactly like you and even your twin can’t do that. The major cause for different looking of human faces is of course the difference in genes. However, recently, a new study by researchers at the U.S. Department of Energy’s Lawrence Berkeley National Laboratory (Berkeley Lab) showed that gene enhancers—regulatory sequences of DNA that act to turn-on or amplify the expression of a specific gene—play vital roles in craniofacial development.

Axel Vesel, a geneticist with Berkeley Lab’s Genomics Division who led this study, noted that this research gives human new insights in understanding mechanisms of some genetic diseases. Vesel’s group focused on these enhancer sequences for many years and previously they had mapped similar gene enhancers that can regulate their targets from across distances of hundreds of thousands of base pairs in the heart, the brain and other organ systems.


Enhancer sequences combine with activator proteins and transcribe target sequences with the presence of other protein mediators. These enhancers act as fine-tuning knobs for gene expression and they can alter the amount of gene expression that could affect craniofacial morphology, resulting in unique human faces. *Image source: Nature.com

Researchers obtained whole genome from facial tissue of 11.5-day-old mouse embryo and identified more than 4,000 candidate enhancer sequences predicted to be active in fine-tuning the expression of genes involved in craniofacial development. After they created genome-wide maps of the enhancers by pin-pointing their location in the mouse genome, they found that a large portion of them are located in intron and non-coding region. Researchers also characterized detailed activity of about 200 of these gene enhancers and proved that some of the sequences can influence the craniofacial morphology of mice. The study also suggested that most of the enhancer sequences are conserved, meaning we could be able to find sequences with almost same functionalities from human genome.


Using genetically modified mice, Vesel and colleague Citia Attanasio found thousands of enhancer sequences that are related with craniofacial development. *Image source: Roy Kaltschmidt, Berkeley Lab.

This study draws attention of science world on non-coding DNA, again. 38.4% of the enhancer sequences found in this study are located in intron regions while 54.7% are in non-coding regions. Several years ago, DNA from these regions were considered to be “waste sequences” because they can’t generate functional proteins. As the development of life sciences, these sequences are drawing more and more attention and their importance in life activities becomes known by human gradually. Vesel and co-workers hope to further understand the functionalities of these DNA molecules so they can be better utilized in future.

Currently, people have a certain understanding on facial deformity due to gene defects. The occurrence of genetic disease such as cleft lip and palate can be explained medically. The new findings provide new insights into surveying these diseases. Novel technologies based on enhancer genes might offer a simple, reasonable solution for facial deformity. Vesel and his collaborators are now in the process of refining their genome-wide maps to gain additional information about the activity patterns of these enhancer sequences, so they can provide new diagnostic and therapic methods to combat these genopathy


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