Recursive splice sites are rare motifs postulated to facilitate splicing across massive introns and shape isoform diversity. The necessity of recursive splicing (RS) and its role in human disease are unsubstantiated. Here, we use CRISPR to model intronic deletions eliminating an RS site (RS1) in CADM2 and conferring ri...
Philip M. Boone, Ricardo Harripaul, Rachita Yadav et al.· Cell Reports· 0 citations
Patients with CHH are enriched for rare 5′-UTR variants creating new uORFs in autosomal dominant genes compared to controls, underscoring the emerging role of non-coding variants in the genetic background of CHH.
Georgios Markantes, Jack M. Fu, Harrison Brand et al.· European Journal of Endocrin...· 0 citations
It is reported that X-linked Dystonia-Parkinsonism (XDP), caused by a non-coding retrotransposon-associated repeat insertion in TAF1, involves a significant imbalance of tau isoforms and the accumulation of hyperphosphorylated, four-repeat tau in the brain.
C. J. Reyes, Aloysius Domingo, E. Penney et al.· medRxiv· 0 citations
An allelic series of CRISPR-engineered human induced pluripotent stem cell (hiPSC) clones harboring mono- and bi-allelic POGZ deletions are created and shared molecular consequences suggest key points of convergence that connect gene regulation to neuronal function in the etiology of neurodevelopmental pathologies.
M. Moyses-Oliveira, Yating Liu, Serkan Erdin et al.· HGG advances· 1 citation
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