Natural selection is the process by which beneficial gene mutations are maintained from generation to generation.
However, if a population of people moves from one environment to another or changes their lifestyle, gene mutations that protect against one pathogen can make people susceptible to new diseases.
One example of such a new disease is Family Mediterranean Fever (FMF).
FMF is an autosomal recessive disordercharacterized by recurrent attacks of fever and peritonitis, sometimes pleurisy, skin lesions, arthritis and rarely pericarditis. Renal amyloidosis may develop, sometimes leading to kidney failure. People with genetic origins from the Mediterranean basin are more likely to suffer from this disease than other ethnic groups. Diagnosis is primarily clinical, although genetic testing is available.
This is an inherited autoimmune diseasearose over the last 20,000 years. It is common in southern Europe, the Middle East and northern Africa, where about 50% of people in the region today carry a gene mutation that makes them more susceptible to the disease.
This predominance of a seemingly deleterious gene mutation may be the result of two different types of natural selection.
- One option is"Incomplete stripping"when a susceptibility gene mutation is in the process of being removed from the population, but has not yet been completely eradicated. In this case, natural selection continues.
- Another variant -"Balancing selection"in which some potentially harmfulgene mutations for one condition persist in the population because they provide some protection against another disease. In this case, the FMF susceptibility gene was associated with protection against the plague-causing bacteria Yersinia pestis.
To determine which version of naturalSince selection is involved in FMF, researchers have turned to advanced AI that is especially good for pattern detection or image recognition. They trained the algorithm on datasets with known values to test its ability to spot patterns.
Then the scientists launched their algorithm in the databasedata for the 1,000 Genomes project, which contains genomic data for 2,504 people from 26 populations, including the corresponding populations in the Mediterranean. They found that mutations in the FMF gene are still prevalent as a result of ongoing selection; they have not yet reached equilibrium, and natural selection is still at work.
"This is the first tool that checksdifference between different types of natural selection. “It detects signals in the genome that were previously inaccessible,” explains lead researcher Dr Matteo Fumagalli from the Department of Life Sciences at Imperial College London. “Now that we have proven that AI can be used to search for subtle patterns of selection in genomes, it will come in handy to further study the processes of people’s adaptation both to old diseases such as plague, and to relatively new ones such as FMF and COVID-19.”
One of the areas of the disease that is nowa team of scientists is investigating - this is the relationship of a person with coronaviruses. People have lived with coronaviruses for at least 50,000 years, and the greater susceptibility of some people to the more serious COVID-19 could signal a different balancing selection mechanism.
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"1000 genomes" is an international project in which,announced in January 2008, by the end of 2011, it was planned to sequence the genomes of approximately 2,500 individuals to create a detailed catalog of human genetic variation, including single nucleotide polymorphisms, indels, and structural variations such as variation in the copy number of genes. In October 2012, it was announced that the target had been achieved, and the genetic data of over 1,000 people had been read and published. The complete database is provided to scientists around the world free of charge and is an enrichment for all areas of the natural sciences.