Researchers have identified the genes that are responsible for uprightness
Scientists have identified the genes that are responsible for skeletal proportions and distinguish humans from other primates. The study is published in the journal Science.Researchers from the University of Texas at Austin and the New York Genome Center used artificial intelligence to analyze X-rays of bones and DNA to identify the genes that control skeletal parameters, from shoulder width to foot size. The analysis reveals details of hominid evolution and opens up the possibility of predicting musculoskeletal diseases.
The researchers used deep learning models to automatically evaluate 39,000 medical images and measure distances between shoulders, knees, ankles and other body points. By comparing the data with each person's genetic sequence, they found 145 points in the genome that control skeletal proportions.
The scientists also studied how skeletal proportions are linked to major musculoskeletal diseases. The analysis showed that people with a higher ratio of hip width to height were more likely to develop osteoarthritis and hip pain. Similarly, people with a higher ratio of femur (thigh bone length) to height are more likely to develop arthritis and knee pain. People with a higher trunk length to height ratio were more likely to develop back pain.
The findings can be used to assess the potential risk of developing diseases and develop preventive measures. In addition, the study improves understanding of the evolution of the Homo species.
Humans are the only large primates with legs longer than arms, and this change in skeletal shape is critical to the ability to walk on two legs. The regions that are associated with skeletal proportions overlap with the zones of accelerated human development, regions of the genome that are common to great apes and many vertebrates but distinct in humans.