A directionally evolved genomic feature in BRSK2 harbors divergent alleles in neurocognitive disorders.

ABSTRACT: The human Brain-specific Serine/Threonine Kinase 2 (BRSK2), alternatively known as Synapses of Amphids Defective (SAD)-A, is mainly expressed in the brain, and required for neuronal polarization and differentiation. This gene contains the longest 5' untranslated region (5' UTR) pentanucleotide short tandem repeat (STR), (CGGCT)6, in human. We hypothesized that this exceptional length may confer selective advantage in cognitive functioning in human. The region spanning (CGGCT)6 was sequenced in a sample of 339 unrelated individuals, consisting of cases affected by late-onset neurocognitive disorder (NCD) (N = 163) and matched controls (N = 176). Consequently, we mapped CGGCT motifs and STRs across the human genome and obtained the phylogenetic tree of the BRSK2 sequence spanning the CGGCT S

SUBMITTER: Ohadi M 

PROVIDER: S-EPMC12217548 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature