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Genetic and Epigenetic Considerations in iPSC Technology
Published in Deepak A. Lamba, Patient-Specific Stem Cells, 2017
RNA editing is a form of posttranscriptional processes to replace discrete nucleotide. The most frequent RNA editing in mammal is adenosine-to-inosine conversion (A-to-I editing) and occurs in double-stranded loop in RNA. The level of A-to-I editing is higher in hESCs but is decreased with neuronal differentiation (203). Adenosine deaminase acting on RNA protein 1 (ADAR1) is an enzyme to catalyze A-to-I editing and shows the highest gene expression in hESCs within ADAR gene family. The depletion of ADAR1 in hESCs upregulates developmental genes, suggesting the importance of A-to-I editing in maintaining pluripotency.
Genetic variants affecting chemical mediated skin immunotoxicity
Published in Journal of Toxicology and Environmental Health, Part B, 2022
Isisdoris Rodrigues de Souza, Patrícia Savio de Araujo-Souza, Daniela Morais Leme
The ACE gene is located on chromosome 17q23 and has an insertion/deletion (I/D) variant (rs4646994) displaying three genotypes: deletion/deletion (DD), insertion/deletion (ID) and insertion/insertion (II) (Elneam, Al-Dhubaibi, and Alrheam 2018; Weger et al. 2007). The DD genotype confers elevated ACE activity and is responsible for 2-fold higher ACE serum and tissue levels than the II genotype, while the heterozygote genotype (ID) has an intermediate level of this enzyme (Mlak et al. 2016; Tippisetty et al. 2011). Although the underlying causes behind the higher ACE expression in DD genotype are unclear, the deletion is localized within an alu element at 287-base pair repetitive sequence in intron 16 of ACE (AluYa5, some authors describe this change as 288 bp or 289 bp). The alu sequences were related to altering gene expression at the post-transcriptional level (alternative splicing, RNA editing and translation regulation) (Häsler and Strub 2006).