Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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RNA-seq of INPP5E mutant cortical organoids against control organoids

ABSTRACT: Primary cilia act as antennas in cell-cell signalling and are crucial for nervous system development. We explored their role in the development of the human cerebral cortex using organoids defective for the ciliary gene INPP5E. We investigated the transcription profile of control and INPP5ED477N/D477N mutant organoids at D25.

INSTRUMENT(S): NextSeq 550

ORGANISM(S): Homo sapiens

SUBMITTER: Thomas Theil 

PROVIDER: E-MTAB-11437 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

The ciliary gene INPP5E confers dorsal telencephalic identity to human cortical organoids by negatively regulating Sonic hedgehog signaling.

Schembs Leah L   Willems Ariane A   Hasenpusch-Theil Kerstin K   Cooper James D JD   Whiting Katie K   Burr Karen K   Bøstrand Sunniva M K SMK   Selvaraj Bhuvaneish T BT   Chandran Siddharthan S   Theil Thomas T  

Cell reports 20220501 7

Defects in primary cilia, cellular antennas that control multiple intracellular signaling pathways, underlie several neurodevelopmental disorders, but it remains unknown how cilia control essential steps in human brain formation. Here, we show that cilia are present on the apical surface of radial glial cells in human fetal forebrain. Interfering with cilia signaling in human organoids by mutating the INPP5E gene leads to the formation of ventral telencephalic cell types instead of cortical prog  ...[more]

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