Pseudogenes, a sub-class of long non-coding RNA (lncRNA) that developed from the genome’s 20,000 protein-coding genes but lost the ability to produce proteins, have long been considered nothing more than genomic “junk.” Yet the retention of these 20,000 mysterious remnants during evolution has suggested that they may in fact possess biological functions and contribute to the development of disease.
Now, a team led by investigators in the Cancer Research Institute at Beth Israel Deaconess Medical Center (BIDMC) has provided some of the first evidence that one of these non-coding “evolutionary relics” actually has a role in causing cancer. In a new study in the journal Cell, publishing online today, the scientists report that independent of any other mutations, abnormal amounts of the BRAF pseudogene led to the development of an aggressive lymphoma-like disease in a mouse model, a discovery that suggests that pseudogenes may play a primary role in a variety of diseases. Importantly, the new discovery also suggests that with the addition of this vast “dark matter” the functional genome could be tremendously larger than previously thought – triple or quadruple its current known size.
An Evolutionary Relic of the Genome Causes Cancer