TY - JOUR TI - Native functions of short tandem repeats AU - Wright, Shannon E AU - Todd, Peter K A2 - Qian, Wenfeng A2 - Chen, Lu VL - 12 PY - 2023 DA - 2023/03/20 SP - e84043 C1 - eLife 2023;12:e84043 DO - 10.7554/eLife.84043 UR - https://doi.org/10.7554/eLife.84043 AB - 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. KW - neurodegeneration KW - genomic instability KW - Fragile X KW - gene expression KW - disease mechanism KW - autism JF - eLife SN - 2050-084X PB - eLife Sciences Publications, Ltd ER -