GSE158233 Transcriptome analysis of N140fs and T141_L142delinsMISLISV mutations in the zebrafish orthologue of the Alzheimer's disease gene PSEN2

Contributors : Haowei Jiang ; Morgan Newman ; Stephen Pederson ; Michael LardelliSeries Type : Expression profiling by high throughput sequencingOrganism : Danio rerioAlzheimer ’s disease is the most common form of age-related dementia. At least 15 mutations in the human gene PRESENILIN 2 (PSEN2) have been found to cause familial Alzheimer’s disease (fAD). Zebrafish possess an orthologous gene, psen2, and present opportunities for investigation of PRESENILIN function r elated to Alzheimer’s disease. The most prevalent and best characterized fAD mutation in PSEN2 is N141I. The equivalent codon in zebrafish psen2 is N140. We used genome editing technology in zebrafish to target generation of mutations to the N140 codon. We isolated two mutations: psen2N140fs, caus ing truncation of the coding sequence, and psen2T141_L142delinsMISLISV, that deletes the two codons immediately downstream of N140 and replaces them with seven codons coding for amino acid residues MISLISV. Thus, like almost every fAD mutation in the PRESENILIN genes, this latter mutation does not t runcate the gene’s open reading frame.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Danio rerio Source Type: research

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