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New research on mutation development fundamentally challenges neo-Darwinism


A new study by a team of researchers from Israel and Ghana provides the first evidence of non-random mutations in human genes, and by showing a long-term directional mutation response to environmental pressure, the core of evolution. I challenged the assumption that Researchers led by Professor Adi Livnat of the University of Haifa have shown that malaria-preventing Africans have a higher incidence of malaria-preventing HbS mutations than Europeans, using a new method. I did. Where not. “For more than a century, the main theory of evolution has been based on random mutations. The result is that HbS mutations are not randomly generated, but instead genes and their adaptive importance. It shows that it occurs preferentially in a group. ” Professor Livnat.

Unlike other findings regarding the development of mutations, this mutation-specific response to specific environmental pressures cannot be explained by traditional theory. “We assume that evolution is influenced by two sources: natural selection external information and internal information that accumulates in the genome over generations and influences the development of mutations,” Livnat said. I am.

Since Darwin, we have known that life was caused by evolution. But to be precise, how does evolution occur in all of its grandeur, mystery, and complexity? For the past century, scientists have assumed that mutations are accidental occurrences in the genome, and that natural selection, or survival of the fittest, is beneficial for beneficial accidents. The accumulation of these presumed genetic accidents under thousands of years of natural selection leads to adaptation from the hawk’s sharp eyes to the human cardiovascular system.

While widely supported by the scientific community, this view always leaves behind unsolved fundamental issues, such as the issue of complexity. The continuous accumulation of small random changes, each beneficial in its own right, is astonishing as seen around us in nature such as the eyes, brain, wings, etc., where complementary parts are interwoven. Can you lead within the time available for the evolution of complex and striking adaptations? To the whole complicated? However, the only option at the basic level considered so far consisted of variants of lamarckism. The concept of random mutations remained a common view, as lamarckism is not generally functioning.

To explain random mutation and natural selection, and to distinguish the possibility that non-random mutations are important, Professor Livnat and his laboratory manager, Dr. Daniel Melamed, have developed a new method for detection. did. also Mutations – Mutations that occur “suddenly” in offspring without being inherited by either parent.In breaking the record for new precision, their method enabled something that wasn’t possible before – Count. also Mutations at specific points of interest in the genome.

Then they apply their method, also The emergence of human hemoglobin S (HbS) mutations, perhaps the most well-known point mutations in biology and evolution. HbS provides protection against malaria for people with one copy, but causes sickle cell anemia in people with two copies. Malaria itself, a vector-borne blood disease, is arguably the strongest selection pressure on humans in the last 10,000 years, often killing more than one million people annually in Africa these days. I have. HbS is also used as a central example of random mutation and natural selection in evolution. It has long been thought that it occurred accidentally in sub-Saharan African individuals and spread throughout Africa by natural selection until the malaria protection effect was balanced. Out due to the cost of its sickle cell anemia.

By investigating also For the first time, Livnat, the origin of HbS, was able to determine whether malaria-protective mutations occur randomly and spread to Africa only due to selection pressure, or are actually possible. Outgoing also More often in sub-Saharan Africans – a group that has been exposed to intense malaria selection pressure for generations. If the mutation is random, it should likely appear equally in both geographic groups. But if the mutation is not random, it will probably appear more often in Africans. “There are at least two possible reasons why such a question wasn’t asked before,” explains Professor Livnat. “First, the mutations were supposed to be random. Second, if you wanted to ask such a question, it wasn’t possible with the previous method.”

Contrary to widely accepted expectations, the results supported non-random patterns. HbS mutation occurred also Not only is it much faster than expected from random mutations, but also in populations (sub-Saharan Africans as opposed to Europeans) and genes (beta-globin as opposed to the control deltaglobin gene). Much faster adaptively important. These results overturn the traditional example of random mutation and natural selection and turn it into an example of non-random but non-Lamarck mutations.

Mutations go against traditional thinking. This result suggests that complex information accumulated in the genome throughout generations influences mutations, and therefore mutation-specific incidence may be able to respond to specific environmental pressures in the long term. there is. “

Professor Adi Livnat, University of Haifa

Previous studies motivated by Lamarckism have only been tested for immediate mutational responses to environmental pressure. “Mutations may not be randomly generated in evolution after all, but it’s not the way previously thought. We need to study inside information and how it affects mutations. there is. .

Until now, researchers have been limited by technology to measure mutation rates as an average over many locations in the genome. To overcome this barrier, a new method developed by Livnat and Melamed made it possible to first measure mutation-specific incidence of HbS mutations, opening up new perspectives in research on mutation development. .. These studies can affect not only a basic understanding of evolution, but also an understanding of mutation-induced diseases: genetic and cancer.


Journal reference:

Melamedo, D. , et al. (2022) De novo mutation rate at single mutation resolution in the human HBB gene region associated with adaptation and genetic disease. Genome research.




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