4C-seq using human pluripotent stem cells and differentiated neural crest derived facial mesenchyme cells_53kb deletion model

Several independent studies have associated FND with partly overlapping heterozygous microdeletions at Chromosome 2p21 in which SIX2 is the only protein-coding gene. SIX2 encodes a member of the SIX family DNA-binding transcription factors and is physically directly adjacent to SIX3, but they are organized into separate topologically associating domains (TADs) flanking a TAD boundary. We generated human pluripotent stem cell (hPSC) lines carrying a SIX2 deletion mimicking the genomic changes in the FND patients. Using this model, we investigate the Cis-gene regulation mechanism within the SIX3-SIX2 locus in SIX2 related FND patients.