eLife: How do human disease-causing genes exist for a long time in the human body

Scientists have discovered a new harmful effect of genes that cause genetic diseases, and they published their findings today in the journal eLife

Their research shows that these genes prevent adaptation (or the evolution of beneficial genes) from occurring in the genome, allowing them to survive longer in the human population by preventing themselves from being removed by selective scanning

These discoveries have provided new insights into the evolutionary process of the past 50,000 years.

"Advanced genome sequencing enables scientists to learn more about the evolution of diseases and the more beneficial characteristics of humans

To fill this gap, Di and his colleagues compared the recent genetic adaptation rates of disease-related genes and non-disease genes in 26 different populations including 1,000 genome projects in the world

They found that recessive Mendelian disease genes are unlikely to disappear from the population

The team also found some regional differences in genetic adaptation patterns when they compared different parts of the genome of the same population

David Enard, assistant professor and senior author in the Department of Ecology and Evolutionary Biology at the University of Arizona, said: "We have also seen that disease genes in the African population have clearer sweep defects because they have a comprehensive and clearer genome-wide sweep signal

Although this study provides some interesting new information, Enard warns that more research is needed to confirm these results and ensure that deviations in the data they use will not affect the results

Enard concluded: "Our work has improved the previous research and tried to solve this important problem by using larger genetic data sets and carefully controlling the confounding factors that may cause disease-causing genes and non-pathogenic genes to show different patterns

This research has been published as part of eLife's "Evolutionary Medicine: Special Issue"

DOI

10.

Article title

Decreased recent adaptation at human mendelian disease genes as a possible consequence of interference between advantageous and deleterious variants