The proteins that domesticated our genomes

EPFL scientists have carried out a genomic and evolutionary study of a large and enigmatic family of human proteins, to demonstrate that it is responsible for harnessing the millions of transposable elements in the human genome. The work reveals the largely species-specific gene-regulatory networks that impact all of human biology, in both health and disease. The human genome contains millions of sequences derived from so-called transposable elements, genetic units that 'jump' around the entire genome. Long considered as junk DNA, transposable elements are now recognized as influencing the expression of genes. However, the extent of this regulation and how it is harnessed were so far unknown. EPFL scientists have now taken the first extensive look at a family of ~350 human proteins, showing that they establish a complex interplay with transposable elements to create largely human-specific gene regulatory networks. Published in Nature, the work also traces the evolutionary history of these proteins, and opens up a new dimension in genetics and medicine.