Strange ‘chimeras’ defy science’s understanding of human genetics

The human genome is far more complex than thought, with genes functioning in an unexpected fashion that scientists have wrongly assumed must indicate cancer, research from the School of Medicine indicates.

Hui Li, PhD, of the UVA School of Medicine and the UVA Cancer Center
Hui Li, PhD, of the UVA School of Medicine and the UVA Cancer Center

Hui Li, PhD, of the Department of Pathology and the UVA Cancer Center, is a pioneer in a small but emerging field that is challenging fundamental assumptions about human genetics. He seeks to understand what is called chimeric RNA – genetic material that results when genes on two different chromosomes produce “fusion” RNA in a way scientists say shouldn’t happen. Researchers have traditionally assumed these chimeric RNA are signs of cancer, of something gone wrong in the genetic transcription process. But Li’s work shows that’s not always the case. Instead, these strange fusions can also be a normal, functional part of our genetic programming.

“This is actually a double-edged sword for cancer diagnosis and treatment. … It basically says the old practice of finding any fusion RNA and claiming it’s a cancer fusion is over. We can’t just say, OK, we found a fusion, it must be a cancer marker, let’s translate it into a biomarker [to detect cancer],” Li said. “That’s actually dangerous. Because a lot of normal physiology also has fusion RNAs. There’s another layer of complexity.”

Full story can be found from University of Virginia website.