Human Existence Is an Accident Based on a Totally Random Genetic Mutation

Artist impression of a strand of DNA. NASA

The evolutionary development behind some of our most vital organs may have happened by accident.

Not long after our ancestral genetic material had distinguished itself from that of sea anemones about 700 million years ago, an entirely random error appeared in our genetic code. New research suggests this mistake set the stage for our bodies to develop the vital organs on which we depend today.

The random mutation affected a gene within the fibroblast growth factor receptors, or Fgfr, a family of proteins involved in key processes like cell growth. A few million years later, the network controlled by the Fgfr family connected with another—this one controlled by a family of regulatory proteins called Esrp.That connection formed the basis for vital internal structures to develop in humans and other vertebrates. In our case, we can thank the mutation for helpful developments like our lungs, our limbs and inner ear, according to a recent paper published in the journal Nature Communications.

TheEsrp family of regulatory proteins controls what's known as the alternative splicing process for some of our cells, the authors write in the new study. Essentially these proteins are responsible for cutting up genes and stitching them back together in a way that lets our genome have way more proteins than it could otherwise; it allows us to evolve and grow.

Until now, scientists knew Esrp was involved in how cells interact with each other when the embryo is developing, but not the extent of that involvement. The international team of researchers who wrote the Nature Communications paper studied that role in various animals, including humans. They found that the connection between Esrp-and Fgfr-controlled networks allowed for the formation of key organs and other biological structures. This entire process was catalyzed by that random mutation 700 million years ago.

"Our results suggest that these genes were part of an ancient genetic machinery, shared by animals as diverse as fish, sea urchins and ourselves," corresponding author Manuel Irimia said in a press release from the Center for Genomic Regulation and the University of Barcelona. "This is a fundamental step in the formation of some organs."

The finding could have implications for cancer research. Irimia noted in the press release that the process described in the new study is the reverse of one that is central to the spread of cancer. The researchers didn't comment on whether this discovery could lead to progress against the disease, but past research has looked to Fgfr as a target for cancer treatments and found it promising.

A genetic mutation that occurred over 700 million years ago may have contributed to the development of certain organs in human beings and other vertebrates. Universitat de Barcelona

The researchers modeled their approach on a scientific field known as evolutionary developmental biology, or evo-devo as it's often called. Evo-devo compares the early stages of development between one organism and another to look at not just how the two organisms are related, but how the development process itself changed over time, according to PBS.

"Clearly, the most exceptional result of the work is the proof of how important serendipity is for evolution," Jordi Garcia-Fernàndez, a professor in the Department of Genetics, Microbiology and Statistics at the University of Barcelona, said in the press release.