'Junk DNA' plays role in face shape

Regions of the genome that do not code for proteins have been found to shape facial features, research at the Lawrence Berkeley National Laboratory, USA, has shown.

The team identified more than 4,000 regions of DNA in noncoding areas, often dubbed 'junk DNA', that affect the shape of the skull or size of the nose.

'We're trying to find out how these instructions for building the human face are embedded in human DNA', Professor Axel Visel, who led the study, told BBC News. 'Somewhere in there must be that blueprint that defines what our face looks like'.

The study looked at 3D models of developing mouse embryos and identified transcriptional enhancers - lengths of DNA that affect which genes are switched on or off - that were active during facial development.

Researchers saw subtle and consistent changes to the length and width of the faces after deleting three of these enhancers in mice when comparing their CT scans with those from normal mouse embryos.

Although these experiments were carried out on mice, humans have many of the same enhancer regions, so these results may help researchers gain a greater understanding of facial birth defects such as cleft lip or palate.

'Our results also offer an opportunity for human geneticists to look for mutations specifically in enhancers that may play a role in birth defects, which in turn may help to develop better diagnostic and therapeutic approaches', said Professor Visel.

Speaking to The Guardian, Professor Peter Hammond at University College London's Institute of Child Health, who was not involved in the research, said: 'There are many genetic conditions where the face is a first clue to diagnosis, and even though the facial differences are not necessarily severe the condition may involve significant intellectual impairment or adverse behavioural traits, as well as many other effects'.

The study was published in Science.