When geneticists started mapping the human genome, they were specifically interested in learning about genes and what they do. Everything else they deemed as “junk DNA.”
But as the saying goes, one person’s trash is another person’s treasure.
So-called junk DNA makes up the vast majority of the genome — about 98% — and consists of non-coding DNA, which scientists now see as vital to studying human health and disease.
“In modern, more enlightened times, we realize that while genes, the protein-coding units of the genome, are very important, they cannot perform their jobs without the very complex regulatory functions of non-coding regions of the genome,” explains Iain Konigsberg, PhD, research instructor in the Department of Biomedical Informatics at the University of Colorado School of Medicine.
He shares what exactly junk DNA is and why associating non-coding DNA with junk no longer makes sense in the world of disease research.