The manifold effects of meiotic recombination on repeat instability
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Short tandem repeats are highly unstable, reflected in their frequent contractions or expansions. This instability can be caused by polymerase slippage during DNA replication, repeat DNA repair by homologous recombination, and misalignment of different repeat lengths during meiotic crossovers. Interestingly, recombination hotspots are enriched for consecutive polyA repeats, but to date the effect of these homopolymer repeats on recombination and how recombination influences their instability remains unexplored. Here, we examined thousands of single crossover (CO) and non-crossover (NCO) molecules using pooled sperm typing of a human hotspot region containing a complex mixture of three polyA repeats: a short 7A/6A repeat in the flanking region of the hotspot and two long repeats 9A/19A and 23A at the center.