How evolution is changing our DNA

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Researchers have been investigating the evolution of human genetics. HECTOR RIO/AFP via Getty Images
  • Researchers have been investigating the evolution of human genetics.
  • They say they have discovered that human genes have continued to change after the evolutionary split from primate ancestors.
  • They acknowledge that genetic research is complicated and more study is needed.

New research is shedding new light on the evolution of modern humans, a process that continues millions of years after the evolutionary split from our primate ancestors.

Now, researchers have added to the existing body of knowledge to create a genetic map comparing humans to other vertebrates, finding that a large number of newly identified genes are completely unique to humans.

In addition, the scientists say these findings could help them better understand the role genetics play in certain diseases.

His study was posted today in life sciences journal cell reports.

While studying specific genes can be challenging, the scientists say this new data set helps pave the way toward a more nuanced understanding of human genetics.

According to katie sagaserMS, CGC, director of genetic counseling at Juno Diagnostics in San Diego, It’s helpful to think of genes as a set of instructions housed within the nucleus of each cell.

“I often compare genes to chapters in a textbook,” Sagaser said. today’s medical news. “If we think of each cell nucleus as a library containing the essential instructions for a complex project, then we expect the library to contain 23 pairs of textbooks, 46 in all. These textbooks represent the human chromosomes inherited from each genetic parent.”

While each parent contributes a set of 23 “textbooks,” the instructions can vary significantly.

When researchers delve into the coils of DNA code embedded within chromosomes, they say they can identify these differences and begin to understand how they develop in the human body.

What complicates matters is the fact that mutations, essentially DNA sequencing variations or failures, are entirely possible.

“This is the case when a baby is born with a de novo dominant genetic mutation, meaning that a single letter of the DNA code was randomly changed in such a way that it resulted in the individual having a unique diagnosis that was not inherited from either. of the genetic parents. Sagaser explained.

Another variable that can make genetics difficult to predict is the fact that variations in a person’s DNA code can occur during their lifetime, for example as a result of certain types of cancer.

“Recalling our bookshelf example, if one were tasked with transcribing and reproducing every letter, sentence, chapter, and volume of a very dense stack of textbooks, it is absolutely possible for a transcription error to occur,” Sagaser said. “Sometimes misspellings have very little, if any, consequence. In other cases, however, spelling and other transcription errors can completely change the intended message.”

A couple of scientists Nikolaos Vakirlisthe first author of the new study and a junior researcher at the Alexander Fleming Biomedical Sciences Research Center in Greece, along with Aoife McLysaghtLead author from Trinity College Dublin in Ireland, have been studying these de novo “orphan” genes for years.

Vakirlis said MNT They began by looking at short DNA sequences in the human genome.

“These are elements of the genome that are not considered appropriate genes and until relatively recently were left out of ‘mainstream’ genomics studies,” he explained. “However, a recent study had shown that some of them appear to have important cellular functions.”

From there, Vakirlis and McLysaght sought to determine when these sequences first evolved along the human lineage, along with the mechanisms that allowed them to arise.

They were able to find a total of 155 microproteins originating de novo. Since de novo gene emergence is now an accepted evolutionary phenomenon, these microproteins could emerge in genes.

Vakirlis said about a third of these 155 de novo-originated microproteins were already known to be functional. However, two of them were strictly human-specific and others also overlap with known disease-causing mutations.

“What we found is significant because it adds to our understanding of the human genome, including details of human-specific genetics, however small,” Vakirlis said. “Our findings also suggest that many more young but important microproteins could be hidden in human cells that can only be discovered through careful experiments.”

While the findings shed new light on the human genome and create new avenues for research, it remains a challenging area to study.

“I think the small size and recent origins are very important for these genes because they combine to make them the most difficult cases to study,” McLysaght said. MNT. “They are on the verge of detectability in both comparative genomics studies and genome annotation. And, as Nikos said, this work suggests that there could be a greater number of unappreciated and undetected genes.”

Vakirlis says that the next steps involved gaining a better understanding of how genes can evolve from scratch.

“Now we can also conduct larger studies as new data sets of human microproteins become available, in the hope of discovering more evolutionarily novel ones,” he said.

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