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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| Evidence ID | Analyze ID | Gene/Complex | Systematic Name/Complex Accession | Qualifier | Gene Ontology Term ID | Gene Ontology Term | Aspect | Annotation Extension | Evidence | Method | Source | Assigned On | Reference |
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| Evidence ID | Analyze ID | Gene | Gene Systematic Name | Phenotype | Experiment Type | Experiment Type Category | Mutant Information | Strain Background | Chemical | Details | Reference |
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| Evidence ID | Analyze ID | Gene | Gene Systematic Name | Disease Ontology Term | Disease Ontology Term ID | Qualifier | Evidence | Method | Source | Assigned On | Reference |
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| Evidence ID | Analyze ID | Regulator | Regulator Systematic Name | Target | Target Systematic Name | Direction | Regulation of | Happens During | Regulator Type | Direction | Regulation Of | Happens During | Method | Evidence | Strain Background | Reference |
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| Site | Modification | Modifier | Source | Reference |
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| Evidence ID | Analyze ID | Interactor | Interactor Systematic Name | Interactor | Interactor Systematic Name | Allele | Assay | Annotation | Action | Phenotype | SGA score | P-value | Source | Reference | Note |
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| Evidence ID | Analyze ID | Interactor | Interactor Systematic Name | Interactor | Interactor Systematic Name | Assay | Annotation | Action | Modification | Source | Reference | Note |
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| Complement ID | Locus ID | Gene | Species | Gene ID | Strain background | Direction | Details | Source | Reference |
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| Evidence ID | Analyze ID | Dataset | Description | Keywords | Number of Conditions | Reference |
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| Evidence ID | Analyze ID | File | Description |
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