- Researchers looked at the evolution of human genetics.
- They say they discovered that human genes continued to change after the evolutionary split from primate ancestors.
- They recognize that genetic research is complicated and further studies are needed.
New research sheds new light on the evolution of modern humans – a process that continues, millions of years after the evolutionary split from our primate ancestors.
Researchers have now added to the body of existing knowledge to create a genetic map that compares humans to other vertebrates, finding that a host of newly identified genes are entirely unique to humans.
What’s more, scientists say these findings could help them better understand the role genetics play in certain diseases.
Their study was
Although studying specific genes can be difficult, the scientists say this new dataset helps pave the way for a more nuanced understanding of human genetics.
According to Katie Sagaser, MS, CGC, director of genetic counseling at Juno Diagnostics in San Diego, it’s helpful to think of genes as a set of instructions housed in the nucleus of every cell.
“I often compare genes to chapters in a textbook,” Sagaser said. Medical News Today. “If we think of each cell nucleus as a library, containing the essential instructions for a complex project, we would expect the library to contain 23 pairs of manuals – 46 in total. These manuals represent the human chromosomes inherited from each genetic parent.
Although each parent brings a set of 23 “manuals”, instructions can vary widely.
When researchers look at the coils of DNA code embedded in chromosomes, they say they can identify these differences and begin to understand how they play out in the human body.
To complicate matters, mutations – essentially variations or glitches in DNA sequencing – are entirely possible.
“This is when a baby is born with a de novo dominant genetic mutation, which means that a single letter of the DNA code has been randomly altered in such a way that the individual has a unique diagnosis 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 cancers.
“Thinking back to our library example, if one were tasked with transcribing and reproducing every letter, sentence, chapter and volume of a very dense stack of textbooks, it is entirely possible that a transcription error would occur. happen,” Sagaser said. “Sometimes misspellings have very little or no consequence. In other cases, however, misspellings and other transcription errors can completely alter the intended message.
A pair of scientists — Nikolaos Vakirlisfirst author of the new study and a junior researcher at the Alexander Fleming Biomedical Sciences Research Center in Greece, as well as Aoife McLysaghta senior author from Trinity College Dublin in Ireland – have been studying these de novo “orphan” genes for years.
Vakirlis said DTM that they started by looking at short DNA sequences in the human genome.
“These are elements of the genome that are not considered appropriate genes and which until relatively recently were mostly overlooked in ‘mainstream’ genomic studies,” he explained. “However,
From there, Vakirlis and McLysaght sought to determine when these sequences first evolved along the human line, as well as the mechanisms that allowed them to emerge.
They were able to find a total of 155 microproteins of de novo origin. Since the de novo emergence of genes is now an accepted evolutionary phenomenon, these microproteins could emerge into genes.
Vakirlis said about a third of these 155 de novo origin microproteins are already known to be functional. However, two of them were strictly specific to humans and others also overlap with known mutations that cause the disease.
“What we found is important because it adds to our understanding of the human genome, including details about human-specific genetics, albeit small,” Vakirlis said. “Our findings also suggest that many other young but important microproteins may be hiding in human cells and can only be discovered by careful experiments.”
Although the findings shed new light on the human genome and create new avenues of research, it is still a difficult area to study.
“I think short stature and recent origins are very important for these genes because they combine to make them the hardest cases to study,” McLysaght said. DTM. “They are at the limit of detectability both in comparative genomics studies and in genome annotation. And, as Nikos said, this work suggests that there may be a greater amount of non appreciated and undetected.
Vakirlis says the next steps were to better understand how genes can evolve from nothing.
“We can now also conduct larger studies as new datasets of human microproteins become available, in hopes of discovering new, more scalable ones,” he said.
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