SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.

3 ), in primary DNMT3B mutant fibroblasts their occupancy was reduced at all three tested D4Z4 regions with the strongest impact observed at the D4Z4 DR1 site, while at the Q and Hox region the enrichment difference did not reach statistical significance (Fig. 4a ).

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