Abstract
Bryant-Li-Bhoj syndrome (BLBS) is associated with germline mutations in the genes encoding human histone H3.3. While to date 70 H3.3 mutants have been associated with BLBS, the molecular mechanisms underpinning this condition remain undefined. We recently showed that in yeast the H3-L61R BLBS mutant causes trapping of yFACT at 3' ends of genes, raising the possibility that this defect could be a contributing factor to disease across all H3-BLBS mutants. Here, we show that of nine additional yeast H3-BLBS mutants analyzed, only one causes yFACT 3' end-trapping, thus indicating that this defect is not a universal feature of H3-BLBS mutants. We also present additional phenotypic data that could provide insights into the molecular mechanisms contributing to BLBS in human patients.
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