2023-11-29 18:00:15
A study published in the journal Nature and co-led by the Institute of Evolutionary Biology (IBE) – a joint center of the CSIC and the Pompeu Fabra University -, the Illumina company and the Baylor Faculty of Medicine (USA) provide a new perspective on the Genetic information of the primates that could reveal key data about the most unknown parts of the human genome —the non-coding genome—its function in health and its role in our evolution. The article represents a continuation from the special issue of Science June 2023, which brought together the largest catalog of primate genomic information to date.
The genome non-coding is one that does not contain information about the proteins of our body and, although it makes up 99% of DNA, its function is largely unknown.
The absence of changes in genomic elements throughout 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 Genomic Analysis (CNAG), the research work generated and compared the genomes of 239 species of primates and of 202 species of mammals. The analysis has revealed that there are 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 conservation or absence of changes in genomic elements throughout the evolutiondue to the effect of natural selection, is an indication of the importance of its function for the survival of a species or order of animals such as primates, including humans. This means that a small variation in your DNA sequence from the hundreds of thousands of regulatory regions identified in this study could lead to alterations of our biological traits, including human health.
Advances have been made with 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 have to find functionality in the vast human genome. Understanding the functionality of the genome continues to be one of the most important challenges in human genetics,” he explains. Thomas Marquès-BonetICREA researcher at the IBE and professor of Genetics at the Department of Medicine and Life Sciences (MELIS) at the Pompeu Fabra University.
Genetic mapping of diseases
Understanding the effects of human genetic variants is crucial for the diagnosis and treatment precise of the diseases with that origin. However, the effects of genetic variants in the non-coding genome they still are difficult to predict.
On the other hand, with the protein-coding DNA sequencesa much more studied part of the genome, have been achieved progress recent using deep learning techniques (deep learning). Now this technology could be applied to the non-coding sequences identified in the study.
“Map conserved sequence elements in the non-coding genome constitute a essential step to understand the effects of all variants in the entire genome, and link them to specific traits and disease outcomes,” he says. Lukas Kudernafirst author of the article, now a researcher at Illumina.
New data on human evolution
To date, studies of comparative genomics have been successful in finding conserved sequences in distant species of mammals. However, recent evolutionary adaptations closer to the origin of our own species have proven much more difficult to identify. This happens because they are found in the non-coding genome which, compared to the coding DNA, it evolves much faster.
These DNA regulatory elements conserved throughout primate evolution could play a critical role in the development of human traits and offer new insights into the unique biology of our species.
Tomàs Márques-Bonet, IBE researcher
By comparing sequences conserved in primate and human species, this research demonstrates that a substantial fraction of the non-coding regulatory elements of the human genome have relatively recent origins.
What makes us unique
This analysis demonstrates that many of these non-coding regulatory elements, which were previously thought to be non-conserved and have a uncertain biological meaningthey actually represent evolutionary adaptations recent of our order. The genome non-coding makes us unique among mammals.
“This elements DNA regulatorswhich have been conserved throughout primate evolution, could play a fundamental role in the development of primate and human traits, offering new insights into the molecular underpinnings of unique biology of our own species”, concludes Marquès-Bonet.
Reference
Kuderna, L.F.K. et al. “Identification of constrained sequence elements across 239 primate genomes’“. Nature (2023)
Rights: Creative Commons.
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