A scientific study published in the prestigious magazine Cell Reports has revealed that human DNA continues to evolve and all from a unique and novel mechanism that was not previously taken into account as part of the evolutionary process and that, in fact, is very little studied, but apparently it is much more interesting and important than was believed.
Specifically, it was researchers from the “Alexander Fleming” Biomedical Sciences Research Center in Greece and Trinity College Dublin, in Ireland, who, after a long and complex scientific study, found that 155 genes in the human genome do not have similar sequences. to no other genes, that is, they seem to have arisen completely from scratch and now play fundamental roles for our cells.
Regarding this, we must take into account that, in general, it was distinguished that one of the main processes by which it is possible to obtain a new gene is through duplication events in which the machinery accidentally generates copies of already existing genes that, With the passage of time and certain mutations, it is possible to generate a new gene that could cover an essential function for cells.
However, through the study carried out by the researchers, it was found that these 155 genes had appeared completely from scratch, since their sequence did not share any similarity with another section of coding DNA.
In this way, they determined that these had arisen from non-coding DNA, the so-called “junk DNA”, because for a long time it was believed that, since these portions of the genome do not have the instructions to encode proteins, then they do not They fulfilled no function, however, it is increasingly clear that they have a fundamental role in gene regulation.
To achieve this, the researchers of the study analyzed the evolutionary origin of several microproteins that are well known to fulfill a crucial biological function in humans, and, after tracing the evolution of the genes that code for these proteins, they determined that this was a perfect example of de novo genes that evolved from non-coding DNA sequences.
Furthermore, it was found that some of these de novo genes that code for microproteins with a crucial function for cells are strictly human-specific, indicating that they have arisen after the split between humans and chimpanzees, demonstrating that human DNA is keeps evolving.
Finally, another interesting question about these de novo genes that have gained an important biological function in a relatively short time, it was determined that the vast majority are associated with growth defects, while others are related to diseases such as muscular dystrophy, retinitis pigmentosa and Alazami syndrome, however, more research is still needed to recognize both the specific mechanism that is carried out for their creation, as well as to verify how these behave in the body.
To consult the study: De novo birth of functional microproteins in the human lineage.
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