Novel implications of a strictly monomorphic (GCC) repeat in the human PRKACB gene

• Published in: Scientific reports Vol. 11; no. 1; pp. 20629 - 9
• Main Authors: Khamse, Safoura, Jafarian, Zahra, Bozorgmehr, Ali, Tavakoli, Mostafa, Afshar, Hossein, Keshavarz, Maryam, Moayedi, Razieh, Ohadi, Mina
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 19.10.2021; Nature Publishing Group; Nature Portfolio
• Subjects: 5' Untranslated Regions; 5' Untranslated Regions - genetics; 631/181; 631/208; 631/337; 631/378; 631/45/147; 631/45/535; Alleles; Animals; Cognition; Cyclic AMP-Dependent Protein Kinase Catalytic Subunits - genetics; Cyclic AMP-Dependent Protein Kinase Catalytic Subunits - metabolism; Cyclic AMP-Dependent Protein Kinase Catalytic Subunits - ultrastructure; Deoxyribonucleic acid; Divergence; DNA; DNA - genetics; DNA structure; Epigenetics; Gene Regulatory Networks - genetics; Genotype; Genotypes; Humanities and Social Sciences; Humans; Kinases; Microsatellite Repeats - genetics; multidisciplinary; Natural selection; Neuroprotection; Promoter Regions, Genetic - genetics; Protein kinase; Protein kinase C; Science; Science (multidisciplinary); Sequence Homology; Short tandem repeats; Tau protein; Toxicity; Trinucleotide Repeats - genetics

PRKACB (Protein Kinase CAMP-Activated Catalytic Subunit Beta) is predominantly expressed in the brain, and regulation of this gene links to neuroprotective effects against tau and Aβ-induced toxicity. Here we studied a (GCC)-repeat spanning the core promoter and 5′ UTR of this gene in 300 human subj...