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Alternative Polyadenylation (APA)

Definition
AI-generated

Alternative polyadenylation is the use of multiple cleavage and polyadenylation sites in a pre-mRNA, producing isoforms with different 3′ untranslated regions or, less often, different coding sequences.

Synonyms

Why it matters in GWAS

Variants in 3′ UTRs may affect microRNA binding, stability, or APA site choice rather than protein sequence; colocalization with expression changes can reflect 3′ end usage. Annotation pipelines differ in how they represent terminal exons and UTR length.

Example usage

"3' end sequencing showed condition-specific alternative polyadenylation in immune genes, altering 3' UTR length and predicted miRNA binding."

References

  • Ji HJ, Pertea M, Salzberg SL. (2026). Annotating genomes at increased scale and resolution. Nat Rev Genet. https://doi.org/10.1038/s41576-026-00937-3

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