Article
Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment.
Science (New York, N.Y.) - 12 Feb 2021
Trujillo Cleber A, Rice Edward S, Schaefer Nathan K, Chaim Isaac A, Wheeler Emily C, Madrigal Assael A, Buchanan Justin, Preissl Sebastian, Wang Allen, Negraes Priscilla D, Szeto Ryan A, Herai Roberto H, Huseynov Alik, Ferraz Mariana S A, Borges Fernando S, Kihara Alexandre H, Byrne Ashley, Marin Maximillian, Vollmers Christopher, Brooks Angela N, Lautz Jonathan D, Semendeferi Katerina, Shapiro Beth, Yeo Gene W, Smith Stephen E P, Green Richard E, Muotri Alysson R
Abstract excerpt
The evolutionarily conserved splicing regulator neuro-oncological ventral antigen 1 (NOVA1) plays a key role in neural development and function. NOVA1 also includes a protein-coding difference between the modern human genome and Neanderthal and Denisovan genomes. To investigate the functional importance of an amino acid change in humans, we reintroduced the archaic allele into human induced pluripotent cells...
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