Has Simple Sequence Repeat Mutability Been Selected to Facilitate Evolution?
2006
Kashi, Yechezkel | King, David G.
While adaptation and speciation begin with heritable variation, the underlying processes of mutation remain poorly understood. One particularly interesting source for prolific and adaptively meaningful variation is presented by the exceptionally high mutability of simple sequence repeats (SSRs: microsatellites and minisatellites). Frequent mutations at SSR sites alter the number of tandem repeats and create extensive polymorphism. Although most SSR variants are commonly presumed to be neutral, SSR variation has been shown to influence many biochemical, morphological, physiological, and behavioral characters, with at least a few examples offering evidence of response to selection. The type and degree of phenotypic variation depend upon each SSR's motif and on its location in exon, intron, or regulatory region, but the generation of abundant repeat-number variation is intrinsic to all of these repetitive sequences. Given the widespread distribution of SSRs within most genomes and their potential to modify almost any aspect of gene function, we believe that SSR mutability can facilitate evolutionary adaptation. Furthermore, we argue that the properties of SSRs allow natural selection to favor, indirectly, the mutability of these sites, in contrast to a conventional expectation that selection normally minimizes mutation rates by balancing the cost of deleterious mutations against the cost of replication fidelity. We believe that SSR mutability is not an "accident" of DNA replication, but has been adjusted and selected for this role. SSRs thus have a true biological function as general-purpose "tuning knobs" whereby mutations provide reversible adjustment for many quantitative and qualitative traits.
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