Comparative Analysis of Trisomy 21 in Humans and Chimpanzees: Into Evolutionary Divergence, Physical and Cognitive

This study is based on computational analyses using publicly available genomic data and datasets, as well as literature-based inferences, citations, and visualization tools. Trisomy 21, which is a chromosomal disease that results from an additional copy of chromosome 21, has been very heavily studied in humans because of its effects on both its physical and cognitive development. However, comparative research has shown the disease in our closest evolutionary relatives, which are chimpanzees. This study investigates species-specific differences in both the molecular and evolutionary areas of Trisomy 21 by comparing gene expression and protein concentration between humans and chimpanzees. Using bioinformatic tools, we analyzed both up- and down-regulated gene expression pathways and identified regulatory regions that are different between the two species. We also checked the evolutionary divergence and convergence that might lead to differences in phenotype changes and expression. Our findings show how evolutionary biology affects the occurrence of Trisomy 21, eventually showing a deeper understanding of its impact on human development and health.