Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths.

ABSTRACT: Using the Telomere-to-Telomere reference, we assembled the distribution of simple repeat lengths present in the human genome. Analyzing over two hundred mammalian genomes, we found remarkable consistency in the shape of the distribution across evolutionary epochs. All observed genomes harbor an excess of long repeats, which are prone to developing into repeat expansion disorders. We measured mutation rates for repeat length instability, quantitatively modeled the per-generation action of mutations, and observed the corresponding long-term behavior shaping the repeat length distribution. We found that short repetitive sequences appear to be a straightforward consequence of random substitution. Evolving largely independently, longer repeats (10+ nucleotides) emerge and persist in a rapidly m

SUBMITTER: McGinty RJ 

PROVIDER: S-EPMC11741425 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature