On the silent trail of human health

A study published in the journal Nature and jointly led by the Institute of Evolutionary Biology (IBE) – a joint center of the CSIC and the Pompeu Fabra University -, the company Illumina and the Baylor Faculty of Medicine (USA) offer a new perspective on the Genetic information of Primates This could reveal important data about the most unknown parts of the world Human DNA – the non-coding genome – its function in health and its role in our evolution. The article represents a continuation from the special edition of Science June 2023, which brought them together largest catalog the previous genome information of primates.

The genome non-coding is one that contains no information about it Proteins of our body and although it makes up 99% of DNA, its function is largely unknown.

The absence of changes in genomic elements during evolution due to natural selection is an indication of the importance of their function for the survival of a species.

In this case, thanks to the DNA sequenced at the National Center for Genome Analysis (CNAG), the research work allowed the genomes of to be generated and compared 239 species of primates and from 202 mammal species. The analysis has shown that there are some Hundreds of thousands of sequences non-coding regulators derived from recent evolutionary adaptationswhich are preserved exclusively in primates and humans.

Sequences that regulate human health

The Preservation or absence of changes in genomic elements throughout evolutiondue to the action of natural selection, is an indication of the importance of its function for the Survive a species or order of animals such as: Primates, including people. This means that your DNA sequence differs slightly from the hundreds of thousands of regulatory regions identified in this study can lead to changes our biological characteristics, including human health.

Advances have been made on protein-coding DNA sequences using deep learning techniques; Now this technology could be applied to non-coding sequences

“The conservation in regions of the human genome is one of the most powerful tools that we need to find functionality in the vast human genome. “Understanding the functionality of the genome remains one of the most important challenges in human genetics,” he explains. Tomas Marques-BonetICREA researcher at IBE and Professor of Genetics at the Department of Medicine and Life Sciences (MELIS) ​​​​of Pompeu Fabra University.

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Genetic mapping of diseases

Understanding the impact of human genetic variants is critical to the Diagnosis and treatment precisely the Diseases with this origin. However, that is Effects genetic variants in the noncoding genome They still are difficult to predict.

On the other hand with that protein-coding DNA sequencesa much better studied part of the genome, has been achieved Progress currently using deep learning techniques (deep learning). Now this technology could be applied to the noncoding sequences identified in the study.

Measure Conserved sequence elements in the noncoding genome form a essential step to understand that Effects of all variants throughout the genome and link them to specific traits and disease outcomes,” he says. Luke KudernaFirst author of the article, now a researcher at Illumina.

New data on human evolution

There are still studies to this day comparative genomics managed to find conserved sequences distant mammal species. However, more recent evolutionary adaptations closer to the origins of our own species have proven much more difficult to identify. This happens because they occur in the non-coding genome, which is compared to the coding DNA it develops much faster.

These DNA regulatory elements, conserved throughout primate evolution, could play a crucial role in the evolution of human traits and provide new insights into the unique biology of our species.

Tomàs Màrques-Bonet, IBE researcher

By comparing sequences conserved across primate and human species, this research shows that a significant proportion of the non-coding regulatory elements of the human genome relatively recent origins.

What makes us unique

This analysis shows that many of these non-coding regulatory elements previously thought to be non-conserved and a uncertain biological significancethey actually represent evolutionary adaptations Current of our order. The genome non-coding make us unique among mammals.

“These elements DNA regulatorsthat have been conserved throughout primate evolution may play a fundamental role in the evolution of primate and human traits and provide new insights into the molecular basis of unique biology from our own species“, concludes Marquès-Bonet.


Kuderna, LFK et al. “Identification of restricted sequence elements in 239 primate genomes“. Nature (2023)

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