A developmental gene has been found to provide a connection between several genes involved in the formation of a cleft lip and palate. Researchers at Brigham and Women's Hospital and Harvard Medical School in Massachusetts, US found that when the gene SUMO1 is under-expressed and does not produce enough of the SUMO1 protein, a cleft lip and palate develops.
A cleft lip, with or without a cleft palate, is one of the world's most common birth defects and is caused by a mixture of genetic and environmental factors. It results in a failure of the tissues of the upper jaw, lip or roof of the mouth to join properly, and can usually be corrected surgically.
The scientists also revealed that when the gene SUMO1 is normally expressed, it produces exactly the right amount of SUMO1 protein, which is needed to interact effectively with specific 'clefting' genes. These genes are part of a network of many interactive genes and proteins, and these all have a domino effect on each other, leading to the normal fusion of the lip and palate.
Determining the role of SUMO1 gene may act as a crucial initiator in investigating multiple genetic interactions in facial development. 'The big challenge for research on cleft lip and palate is to move away from studying individual genes to defining individual protein networks'. says Dr Richard Maas, a senior author on the research paper published in the journal Science.
Maas hopes that his findings will promote more research into cleft lip and palate development genes, which will bring clearer answers. 'What's exciting about SUMO1 is that it allows us for the first time to begin to connect at least some of the dots', he says, before adding, 'It's at this dynamic, real-time level that science will begin to see the big picture and tease out more of the needed insights to understand and hopefully eventually prevent cleft lip and palate in newborns'.