A gene that enables researchers to understand how the evolution process works has been found to be a gene that encodes a specific feature of the human genome.
A paper published in the journal Nature Communications was co-authored by a team of geneticists at the University of Wisconsin-Madison.
The team found that the gene encoding the ‘transmembrane stabilisation’ protein that helps to maintain the integrity of the nucleus during cell division was a mutation in a human genome that was introduced into the gene through an environmental mutation in the human germline.
“This mutation causes the nucleic acid sequence of the gene to be altered to become a gene with the transmembranes stabilising feature,” said lead author Dr Peter Hausmann, a UW-Madison associate professor of biological sciences.
“When a cell divides, the DNA in its nucleus is degraded by the process of fusion.
The nucleic acids of each cell are then degraded and recombined into the nucleus.
The result is that the nuclei are formed in clusters of several nucleotides that are then linked together into an aggregate protein.”
When the nucleus of a cell is divided into its components, they are able to move in different directions, the researchers say.
This means that if the nucleus is damaged, it will not be able to replicate itself.
When researchers look for changes in the nucleotide sequence of this stabilising protein, they find that this mutation has caused the protein to become unstable.
This stabilising property allows cells to remain alive and able to differentiate into more cells.
“We have shown that this stabilisation protein can regulate the cell division and allow cells to differentiate,” said Dr Hausman.
The stabilising proteins are present in all the cells of the body and are used to ensure the cells remain viable, even if they are destroyed by an infection or other stressors.
“By studying these proteins, we are able in principle to identify the specific cell populations that have this stabilised protein and determine the specific mutation that has caused it to become defective,” he added.
In a separate paper, the team also found that mutations in a particular gene have been found in more than 100 human genomes.
“These mutations cause the gene structure to change,” said co-author Dr Roberta Pekovac, a geneticist at the Max Planck Institute for Evolutionary Anthropology.
“Our findings suggest that some mutations, which may be involved in complex disease processes, may be more prevalent in the genomes of some populations than previously thought.”
The researchers believe that their work will help to shed light on the origin and evolution of complex human diseases.
They are currently testing the protein gene in a number of different populations, including humans, mice and mice from other species.
“The gene is not just about understanding the genetics of how the cell is regulated.
It is also about understanding how the process is organised and how the genes are linked together in the body,” Dr Pekosac said.”
It is also important to know what role the genes play in the structure of the cell.”
The work has been published in Nature Communications.
