Not all of the human genome length contains information that can be translated. The genes are flanked by regions that regulate their translation to other proteins without apparent utility. A research group at the Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), headed by Jorge Ferrer, has used this knowledge to identify non-coding regions of the genome important for diabetes. The research results were published in the journal 'Nature Genetics'.
Staff | 2 February 2010
The sequencing techniques for the research have been carried out by the team led by Jason D. Lieb at the University of North Carolina at Chapell Hill (United States). The published paper, with three signatories including Takao Nammo and Lorenzo Pasquali, from IDIBAPS, compares the genomes of three cells from pancreatic islets (structures of the pancreas in charge of secreting insulin) with those of five non-pancreatic cells.
DNA has more than 3,000 million nucleotides and is found very compact at the core of the cells. For the cell machinery that enables the translation of proteins, to interact, it is necessary that it decompresses and becomes slightly more accessible. The comparison of the results from these two types of cells has allowed the identification of 3,300 areas outside the genes that are found only in de-compacted pancreatic islets. This means that these are areas which, although do not encode any gene, are important for the translation of proteins in these cells.
Diabetes is a complex disease that depends on many factors, and one has not yet identified genetic mutations that explain this satisfactorily. With the map that the researchers from IDIBAPS have obtained it will be possible to discover which of these variations close to the genes may be important for the disease because they are found in active regions of the genome specifically in the pancreatic islets. In fact, the paper published has already located a polymorphism found usually in diabetes in an active zone close to the gene TCF7L2, a protein linked to the risk of getting type 2 diabetes.
