Pentanucleotide guanine-rich WGGGW repeats, including CANVAS AGGGA repeats, form a variety of noncanonical structures.

ABSTRACT: Short tandem repeats (STRs) are an important component of the human genome as they contribute to genetic diversity and can influence gene expression and disease susceptibility. STRs are important in the context of CANVAS (Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome) genetic disease as expansions of AGGGA repeats within the RFC1 gene are associated with the development of this neurodegenerative disorder. Interestingly, the RFC1 expanded motifs are pentanucleotides that differ from the nonpathogenic AGAAA pentanucleotide motif present in reference genomes. The molecular mechanisms underlying the pathogenicity of the mutated pentanucleotide expansion in CANVAS are still unknown. Several groups have shown that DNA and RNA containing AGGGA repeats fold into G-quadruplexes (G4s)

SUBMITTER: Wang J 

PROVIDER: S-EPMC12856209 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature