How evolution shaped our skeleton: hidden clues in the genome
Institute for the Advanced Study of Human Biology (ASHBi), Kyoto UniversityPeer-Reviewed Publication
Humans stand apart from other great apes: we walk on two legs, carry unusually large brains, and have slender, distinctively shaped skeletons. Yet which changes in our DNA produced these features has remained one of biology’s great open questions. Human and chimpanzee genomes are more than 98% identical, and the genes themselves, the blueprints for proteins, barely differ. The changes that make us human are thought to hide instead in the DNA that controls when and where genes switch on.
A team led by Associate Professor Fumitaka Inoue and researcher Yizhi Yan at Kyoto University’s Institute for the Advanced Study of Human Biology (WPI-ASHBi), together with Principal Investigator David Gokhman and Nadav Mishol at the Weizmann Institute of Science, has now built the world’s first functional atlas of the human-specific gene-control changes behind our skeleton. Combining two powerful techniques (massively parallel reporter assays, or MPRA, and human-ape hybrid cells), they discovered that a family of molecules called glycosaminoglycans (GAGs), which cushion and maintain our cartilage, has been dialed down over the course of human evolution. The finding offers a new window onto how the human skeleton took its shape, and onto why we are so uniquely susceptible to skeletal disease.
The work will be published in Nature on 23 September 2026 at 11:00 EST.- Journal
- Nature