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Anti-NR2F1 scCUT&Tag on FAC-sorted Isl1MN-GFP rhombomere 4 neurons from wildtype and HCFP1 Fam5snv/snv E10.5 mouse embryos

ABSTRACT: We found hereditary congenital facial paralysis type 1 (HCFP1) is caused by variants that duplicate or change cis regulatory elements (cREs) controlling the neuronal expression of the GATA2 transcription factor. The single nucleotide variants (SNVs) alter a previously uncharacterized cis regulatory element (we named cRE2). A subset of these variants disrupted a consensus sequence for the COUP transcription factor family (NR2F1 and NR2F2). We performed low-input scCUT&Tag with antibodies against NR2F1 and found it bound to the predicted cRE2 sequence in embryonic mouse rhombomere 4 motor neurons in vivo. We generated an HCFP1 SNV mouse model that harbored Mm10:Chr6:88,224,892 A>G in the NR2F1 binding site (Fam5snv/snv) and found it disrupted NR2F1 binding in vivo.

ORGANISM(S): Mus musculus

PROVIDER: GSE223271 | GEO | 2023/04/04

REPOSITORIES: GEO

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