Impact of a Bbs7 deletion in intron 8 and CTCF site loss on chromatin architecture in BFMI860-12 astrocytes

This study investigates the 3D chromatin organization and transcriptional landscape of the Bbs7 gene locus on murine Chromosome 3. The Berlin Fat Mouse Inbred line (BFMI860-12) carries a specific deletion within intron 8 of the Bbs7 gene. This structural variant results in the loss of a CTCF-binding site compared to the C57BL/6N reference strain.We hypothesize that the elimination of this CTCF element alters the local chromatin topology and consequently affects gene expression. To test this, we performed in situ Hi-C and RNA-Seq on isolated astrocytes from cerebral tissue of BFMI860-12 and C57BL/6N mice.