Publications by authors named "Elisabeth Rothman"
Article Synopsis
- The purpose of the study was to evaluate new human genes and variants related to ocular congenital cranial dysinnervation disorders (oCCDDs) using genetic sequencing methods.
- Researchers prioritized 43 human genes and 57 zebrafish genes through CRISPR/Cas9 knockout assays in zebrafish, ultimately generating mutants for 17 of those genes.
- The study identified three novel genes linked to cranial motor development and demonstrated that certain human gene variants may impair protein function, suggesting they could contribute to oCCDDs.
Most human Transcription factors (TFs) genes encode multiple protein isoforms differing in DNA binding domains, effector domains, or other protein regions. The global extent to which this results in functional differences between isoforms remains unknown. Here, we systematically compared 693 isoforms of 246 TF genes, assessing DNA binding, protein binding, transcriptional activation, subcellular localization, and condensate formation.
View Article and Find Full Text PDFThe lysine acetyltransferase KAT6A (MOZ, MYST3) belongs to the MYST family of chromatin regulators, facilitating histone acetylation. Dysregulation of KAT6A has been implicated in developmental syndromes and the onset of acute myeloid leukemia (AML). Previous work suggests that KAT6A is recruited to its genomic targets by a combinatorial function of histone binding PHD fingers, transcription factors and chromatin binding interaction partners.
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