What makes a gene cause a disease? Do all the genes linked to pathologies have something in common? Is there a relationship between disease and evolutionary adaptation? These are some of the questions posed by researchers from the Institute of Evolutionary Biology ( IBE ), a joint center of UPF and the CSIC, in their latest study published in the journal Human Molecular Genetics . To answer them, the team compared genes that can cause disease with genes that have never been linked to either, concluding that disease-linked genes share evolutionary characteristics and have different protein networks than the rest of the genome. The wave of new technologies that has recently transformed the field of biology presents an opportunity for large-scale analyzes and comparisons of genomes using computational methods.

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Thus, thanks to the data obtained by projects Guatemala Email List such as that of the 1000 human genomes, Elena Bosch (IBE, CSIC-UPF) and her scientific team have been able to study a total of 3,275 genes linked to diseases . These genes appear to be much more conserved in evolution, are much more relevant in the network of protein interactions, and are expressed in greater numbers and in more tissues than genes not linked to diseases. “The observed characteristics suggest that these genes have such an important role that many of the variants that they harbor can take the organism out of balance, resulting in a disease”, says Bosch, leader of the Laboratory of Evolutionary Genetics of Populations (IBE, CSIC- UPF). Researchers have also explored the differences between genes linked only to Mendelian diseases, genes linked only to complex diseases,

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genes related to both types of pathologies. The Mendelian diseases are those that are inherited by a mutation in a single gene, such as cystic fibrosis or hemophilia, while complex diseases depend on a combination of genetic and environmental factors and are more frequent in the population, such as obesity or cancer. “There is increasing evidence, this study one of them, that Mendelian genes play an important role in complex diseases ,” says Nino Spataro, first author of the study. “After collecting 887 genes linked to Mendelian diseases, we have seen that more than 23% are related to at least one complex disease.” The results of the comparison also show that the genes that participate in both types of diseases have a greater weight in the susceptibility to these. In fact, scientists have observed a gradient of biological importance within the genome:

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