Native functions of short tandem repeats
- PMID: 36940239
- PMCID: PMC10027321
- DOI: 10.7554/eLife.84043
Native functions of short tandem repeats
Abstract
Over a third of the human genome is comprised of repetitive sequences, including more than a million short tandem repeats (STRs). While studies of the pathologic consequences of repeat expansions that cause syndromic human diseases are extensive, the potential native functions of STRs are often ignored. Here, we summarize a growing body of research into the normal biological functions for repetitive elements across the genome, with a particular focus on the roles of STRs in regulating gene expression. We propose reconceptualizing the pathogenic consequences of repeat expansions as aberrancies in normal gene regulation. From this altered viewpoint, we predict that future work will reveal broader roles for STRs in neuronal function and as risk alleles for more common human neurological diseases.
Keywords: Fragile X; autism; disease mechanism; gene expression; genetics; genomic instability; genomics; neurodegeneration.
Conflict of interest statement
SW No competing interests declared, PT Dr Todd served as a consultant to Denali Therapeutics and holds a shared patent on ASOs developed with Ionis Pharmaceuticals
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