A huge international consortium lifts the veil, for the first time, on a great mystery of our genome. There may be more than 100,000 genes ignored to date.
Just over 20 years ago, science completed the first sequencing of the human genome. Initially, 30 thousand genes were identified, but the final number was approximately 20 thousand. This value disregards thousands of hidden genes, hidden in ignored regions of DNA — the unpopular “junk” DNA.
The discovery of this new set of genes was now possible through a large international consortium, which brought together scientists from more than 20 research institutions from around the world. The group reviewed numerous studies and data on the human genome, and the first results were published as pre-publication (non-peer-reviewed text) on the platform on September 9.
Although these genes are “foreign” and only code for smaller-than-average proteins — so-called miniproteins — play an important role in the immune system and the development of cancer.
Junk DNA, hidden genes and mini-proteins
Regions of the genome classified as non-coding were designated, for decades, as junk DNA. However, science is beginning to identify that these fragments are indeed important, such as in the production of microproteins, which do not appear to be noise from the human organism, as previously believed.
The paradigm shift began due to a series of new medical discoveries. This is the case of the investigation by John Prensner, neuro-oncologist at the University of Michigan (USA) and member of the current study, who tracked around 550 microproteins in cancer cells. And yes, these play a critical role.
In the recently released study, the international group analyzed 7,200 sets of genes in hidden areas of DNA and discovered at least 3000 new genes that can encode these small proteins.
The expectation is that, as the study of these hidden genes advances, it is possible to identify up to 50 thousand genes that are part of the human genome — this number has already included the 20 thousand officially recognized. Some more optimistic predictions even suggest the existence of 100 thousand genesalthough this hypothesis is considered unlikely by experts.
In the coming years, hidden genes are expected to revolutionize medicine. Without identifying these microproteins and understanding their contribution, the ability to treat diseases will remain limited, as in the cases of cancer already described. This is a great mystery of human DNA that is now beginning to be unraveled.
