Sergei M. Mirkin

This paper investigates how (AAGGG)n repeats in the RFC1 gene cause DNA replication fork stalling and reversal, implicating G4-DNA and SMARCAL1 in the process.

The paper analyzes the distribution of simple repeat lengths across mammalian genomes and shows that long repeats are abundant due to mutational dynamics, not natural selection.

The paper studies the source of RS3 microsatellite length polymorphism in humans by recapitulating it in yeast and finding it results from recombination.

This study shows DNA nicks drive (GAA)n repeat expansions in dividing and non-dividing cells, mimicking human disease mechanisms.

This study shows that pathogenic (A2G3)n repeats in CANVAS stall DNA replication by forming alternative DNA structures like triplexes, while nonpathogenic (A4G)n repeats do not.

This study investigates the molecular mechanisms of CCTG repeat contractions in DM2 using yeast, showing distinct helicase requirements and chromosomal fragility.

This study develops an experimental system to analyze GAA repeat expansions and replication fork stalling in human cells, finding that repeat expansions depend on proteins involved in replication fork stalling and restart.

This study shows that LNA-DNA and PNA oligomers prevent GAA·TTC repeat expansions in human cells by disrupting triplex DNA structures formed by these repeats.

The paper identifies dynamic DNA secondary structures in vivo that contribute to genome instability by analyzing ssDNA converted to DSBs using S1-END-seq.

The paper identifies S-phase RNAs that anchor ORC1 to H2A.Z, enabling DNA replication initiation and revealing an RNA-mediated mechanism for replication origin formation.