Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment | Zendy

Cleber A. Trujillo | Zendy; Edward S. Rice | Zendy; Nathan K. Schaefer | Zendy; Isaac A. Chaim | Zendy; Emily C. Wheeler | Zendy; Assael A. Madrigal | Zendy; Justin Buchanan | Zendy; Sebastian Preißl | Zendy; Allen Wang | Zendy; Priscilla D. Negraes | Zendy; Ryan A. Szeto | Zendy; Roberto H. Herai | Zendy; Alik Huseynov | Zendy; Mariana Sacrini Ayres Ferraz | Zendy; Fernando S. Borges | Zendy; Alexandre Hiroaki Kihara | Zendy; Ashley Byrne | Zendy; Maximillian G. Marin | Zendy; Christopher Vollmers | Zendy; Angela N. Brooks | Zendy; Jonathan D. Lautz | Zendy; Katerina Semendeferi | Zendy; Beth Shapiro | Zendy; G Yeo | Zendy; Stephen Smith | Zendy; Richard E. Green | Zendy; Alysson R. Muotri | Zendy

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Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment

Author(s) -

Cleber A. Trujillo,

Edward S. Rice,

Nathan K. Schaefer,

Isaac A. Chaim,

Emily C. Wheeler,

Assael A. Madrigal,

Justin Buchanan,

Sebastian Preißl,

Allen Wang,

Priscilla D. Negraes,

Ryan A. Szeto,

Roberto H. Herai,

Alik Huseynov,

Mariana Sacrini Ayres Ferraz,

Fernando S. Borges,

Alexandre Hiroaki Kihara,

Ashley Byrne,

Maximillian G. Marin,

Christopher Vollmers,

Angela N. Brooks,

Jonathan D. Lautz,

Katerina Semendeferi,

Beth Shapiro,

G Yeo,

Stephen Smith,

Richard E. Green,

Alysson R. Muotri

Publication year - 2021

Publication title -

science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 12.556

H-Index - 1186

eISSN - 1095-9203

pISSN - 0036-8075

DOI - 10.1126/science.aax2537

Subject(s) - biology , organoid , gene , induced pluripotent stem cell , genome , neanderthal , phenotype , genetics , computational biology , evolutionary biology , embryonic stem cell , sociology , anthropology

Brain organoids with Neanderthal genes The genomes of Neanderthals and modern humans are overall very similar. To understand the impact of genetic variants that are specific to modern humans, Trujilloet al. performed a genome-wide analysis to identify 61 coding variants in protein-coding genes. Identifying the gene encoding the RNA-binding proteinNOVA1 as a top candidate for functional analyses, they introduced the archaic gene variant into human pluripotent stem cells and generated brain organoids. These organoids showed alterations in gene expression and splicing as well as morphology and synaptogenesis, suggesting that this method could be used to explore other genetic changes that underlie the phenotypic traits separating our species from extinct relatives.Science , this issue p.eaax2537

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