Journal: bioRxiv
Article Title: Programmable Repair of Disease-Causing UGA Stop Codons in Mammalian Brain
doi: 10.64898/2026.05.13.724978
Figure Lengend Snippet: (A) Premature termination codon (PTC) landscape for a variety of neurological and neurodevelopmental disorders. Prevalence varies from %13 ( SCN2A ) to 42% ( CHD2 ), with a majority caused by Arg CGA-to-TGA. (B) ClinVar submissions by stop codon type further demonstrates Arg UGA as the dominant PTC. (C) experimental layout to measure agnostic Arg UGA PTC rescue in SYNGAP1 and CDKL5 . (D) A 67-bp window centered on the mutated CGA codon (34 bp upstream and 33 bp downstream) across 19 variants from two genes: SYNGAP1 (R76, R84, R105, R485, R520, R526, R628, R716, R863, R908, R1026 and R1181) and CDKL5 (R59, R134, R550, R559, R952, R970 and R981). (E-F) positional agnostic rescue in SYNGAP1 and CDLK5 . Only one site, R134TGA in CDKL5, demonstrated poor rescue.
Article Snippet: The full-length CDKL5 sequence (RefSeq: NM_003159, Clone ID: HsCD00022404) was obtained from the DNAsu repository at The Biodesign Institute, Arizona State University.
Techniques: