A giant step forward in understanding how human genes work
An international team publishes a manual with nearly 70,000 functions that will be key to research.
BarcelonaSignificant advance in the understanding of human genetics. An international team of scientists, including Dr. Àlex Bayés of the Sant Pau Research Institute (IR Sant Pau) in Barcelona, published this Thursday in the magazine Nature the most comprehensive manual to date on the functioning of the human genome. The study identified more than 68,000 functions, corresponding to 82% of all genes.
Until now, science had managed to describe between 40% and 60% of coding genes, that is, those that contain instructions for making proteins. Thus, the new compendium increases this understanding and has been developed using the innovative PAN-GO (Phylogenetic Annotation of Gene Ontology) platform, which is the result of a collaboration between the Gene Ontology Consortium and the PANTHER evolutionary tree resource.
This methodology is known as functionoma human and the researchers propose that it will be a fundamental source of information for basic and biomedical research. The project compiles information obtained directly from studies on human genes and combines it with a comparative evolutionary analysis, which has allowed investigation of the origin of the functions of human genes.
In this sense, the team describes that most genetic functions are ancestral - they appeared before the formation of multicellular organisms, more than 1.6 billion years ago - and have been highly conserved. In particular, more than half of all genes that code for human proteins have inherited a functional characteristic and more than a third have not changed in general function since that time.
In fact, the researchers calculate that the last evolutionary wave of new genetic functions would be situated in the appearance of mammals with placentas, 100 million years ago. Since then, few new functions have been incorporated into the repertoire of the human genome, says the study.
Biology and diseases
This compendium is the result of a major international effort to integrate and create a representation of human gene functions that is as complete and accurate as possible, the researchers explain, since determining the entire functional repertoire of genes is vital to understanding human biology and treating diseases. As Bayés explains in a statement, the work has allowed for the creation of "indispensable computational analysis tools for biomedical research."
Furthermore, he emphasizes that this global scientific initiative aims to "systematize the knowledge generated by the entire scientific community on the functions of human genes," and highlights that the participation of the IR Sant Pau "reaffirms the scientific excellence of the institute and its contribution to benchmark basic and biomedical research."