- Researchers have studied the development of human genetics.
- They say they’ve found that human genes continued to change after the evolutionary separation from primate ancestors.
- They recognize that genetic research is complicated and that 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 separation from our primate ancestors.
Researchers have now expanded existing knowledge to create a genetic map that compares humans with other vertebrates and found that a wide variety of newly identified genes are completely unique to humans.
In addition, scientists say these findings could help them better understand the role of genetics in certain diseases.
Their study was published today in the life sciences journal Cell Reports.
While studying specific genes can be a challenge, scientists say this new data set helps pave the way to a more nuanced understanding of human genetics.
Genes: A handbook for life
According to Katie Sgaser, 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 the chapters of a textbook,” Sagaser told Medical News Today. “If we think of each cell nucleus as a bookshelf that contains the essential instructions for a complex project, we expect the bookshelf to contain 23 pairs of textbooks — 46 in total. These textbooks represent human chromosomes inherited from each genetic parent.”
Although each parent contributes a set of 23 “textbooks,” the instructions may vary significantly.
When researchers look at the DNA codes embedded in chromosomes, they say they identify these differences and start to understand how they work out in the human body.
Genetics is not completely predictable
This is further
aggravated by the fact that mutations — essentially variations or disorders within DNA sequencing — are entirely possible.
“This is the case when a baby is born with a de novo dominant gene mutation, which means that a single letter of the DNA code was randomly altered so that the individual has a unique diagnosis that was not inherited from either genetic parent,” Sagaser explained.
Another variable that can make genetics difficult to predict is the fact that variations in a person’s DNA code can occur over a lifetime — as a result of certain types of cancer, for example.
“If we think back to our example with the bookshelf: If you were tasked with transcribing and reproducing every letter, sentence, chapter, and volume of a very dense stack of textbooks, it’s absolutely possible that a transcription error could occur,” said Sagaser. “Sometimes spelling mistakes have very little, if any, consequences. In other cases, however, spelling and other transcription errors can completely alter the intended message.”
The challenges of gene research
While the results shed new light on the human genome and open up new research opportunities, it is still a challenging area of research.
“I think the small size and recent origins are very important for these genes, as together they are becoming the hardest cases to study,” McLysaght told MNT. “They are on the verge of detectability both in comparative genomic studies and in genome annotation. And as Nikos said, this work suggests that a larger number of unknown and undiscovered genes could exist.”
According to Vakirlis, the next steps were to better understand how genes could evolve from scratch.
“We can now also carry out more comprehensive studies as new datasets of human microproteins become available, in the hope of discovering even more evolutionarily novel ones,” he said.