Ontology highlight
ABSTRACT:
SUBMITTER: Nadler MJS
PROVIDER: S-EPMC10063665 | biostudies-literature | 2023 Mar
REPOSITORIES: biostudies-literature
Nadler Monica J S MJS Chang Weipang W Ozkaynak Ekim E Huo Yuda Y Nong Yi Y Boillot Morgane M Johnson Mark M Moreno Antonio A Matthew P Anderson
Communications biology 20230330 1
SINE-VNTR-Alu (SVA) retrotransposons arose and expanded in the genome of hominoid primates concurrent with the slowing of brain maturation. We report genes with intronic SVA transposons are enriched for neurodevelopmental disease and transcribed into long non-coding SVA-lncRNAs. Human-specific SVAs in microcephaly CDK5RAP2 and epilepsy SCN8A gene introns repress their expression via transcription factor ZNF91 to delay neuronal maturation. Deleting the SVA in CDK5RAP2 initiates multi-dimensional ...[more]