Single Amino Acid Change in NOVA1 Gene Altered Brain Development in Organoid Study
Scientists at the University of California San Diego used genome editing to insert the Neanderthal and Denisovan version of the NOVA1 gene into human induced pluripotent stem cells, then grew them into cortical organoids. The archaic variant caused slower development and higher surface complexity compared to organoids with the modern human version. Organoids carrying the archaic NOVA1 also showed different levels of synaptic markers and altered electrical properties. The research appeared in Science in 2021. NOVA1 is a splicing regulator that plays a key role in neural development and function, and the protein-coding difference between modern humans and archaic hominins involves a single amino acid.
The human-specific substitution in NOVA1, which arose after modern humans diverged from Neanderthals, may have had functional consequences for our species' evolution.
Written by the Genomes desk from the primary source linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].