Uncovering the genome's regulatory code
Since the sequencing of the human genome in 2001, all our genes – around 20,000 in total – have been identified. But much is still unknown – for instance where and when each is active. Next to each gene sits a short DNA segment, and the activity of this regulatory segment determines whether the gene will be turned on, where and how strongly. These short regulatory segments are as – if not more – important than the genes, themselves. Indeed, 90% of the mutations that cause disease occur in these regulatory areas. They are responsible for the proper development of tissues and organs, determining, for instance, that eye cells – and only eye cells – contain light receptors, while only pancreatic cells function to produce insulin. Clearly, a deeper understanding of this regulatory system – its mechanisms and possibilities for malfunction – may lead to advances in biomedical research, especially...