Dominant effects of the histone mutant H3-L61R on Spt16-gene interactions in budding yeast.

ABSTRACT: Recent studies have unveiled an association between an L61R substitution within the human histone H3.3 protein and the presentation of neurodevelopmental disorders in two patients. In both cases, the mutation responsible for this substitution is encoded by one allele of the H3F3A gene and, if this mutation is indeed responsible for the disease phenotypes, it must act in a dominant fashion since the genomes of these patients also harbour three other alleles encoding wild-type histone H3.3. In our previous work in yeast, we have shown that most amino acid substitutions at H3-L61 cause an accumulation of the Spt16 component of the yFACT histone chaperone complex at the 3' end of transcribed genes, a defect we have attributed to impaired yFACT dissociation from chromatin following trans

SUBMITTER: Pablo-Kaiser A 

PROVIDER: S-EPMC9665134 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature