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PRDM16 co-operates with LHX2 to shape the human brain

Show simple item record Suresh, Varun en_US PRADHAN, SAURABH J. en_US GALANDE, SANJEEV et al. en_US 2024-04-24T05:45:27Z 2024-04-24T05:45:27Z 2024-04 en_US
dc.identifier.citation Oxford Open Neuroscience, 3, kvae001. en_US
dc.identifier.issn  2753-149X en_US
dc.identifier.uri en_US
dc.description.abstract PRDM16 is a dynamic transcriptional regulator of various stem cell niches, including adipocytic, hematopoietic, cardiac progenitors, and neural stem cells. PRDM16 has been suggested to contribute to 1p36 deletion syndrome, one of the most prevalent subtelomeric microdeletion syndromes. We report a patient with a de novo nonsense mutation in the PRDM16 coding sequence, accompanied by lissencephaly and microcephaly features. Human stem cells were genetically modified to mimic this mutation, generating cortical organoids that exhibited altered cell cycle dynamics. RNA sequencing of cortical organoids at day 32 unveiled changes in cell adhesion and WNT-signaling pathways. ChIP-seq of PRDM16 identified binding sites in postmortem human fetal cortex, indicating the conservation of PRDM16 binding to developmental genes in mice and humans, potentially at enhancer sites. A shared motif between PRDM16 and LHX2 was identified and further examined through comparison with LHX2 ChIP-seq data from mice. These results suggested a collaborative partnership between PRDM16 and LHX2 in regulating a common set of genes and pathways in cortical radial glia cells, possibly via their synergistic involvement in cortical development. en_US
dc.language.iso en en_US
dc.publisher Oxford University Press en_US
dc.subject Brain development en_US
dc.subject PRDM16 en_US
dc.subject LHX2 en_US
dc.subject 1p36 deletion syndrome en_US
dc.subject Cerebral organoids en_US
dc.subject Human disease model en_US
dc.subject 2024 en_US
dc.subject 2024-APR-WEEK1 en_US
dc.subject TOC-APR-2024 en_US
dc.title PRDM16 co-operates with LHX2 to shape the human brain en_US
dc.type Article en_US
dc.contributor.department Dept. of Biology en_US
dc.identifier.sourcetitle Oxford Open Neuroscience en_US
dc.publication.originofpublisher Foreign en_US

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