Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility.
Expanded CGG repeats cause chromosomal fragility and hereditary neurological disorders in humans. Replication forks stall at CGG repeats in a length-dependent manner in primate cells and in yeast. Saccharomyces cerevisiae proteins Tof1 and Mrc1 facilitate replication fork progression through CGG repeats. Remarkably, the fork-stabilizing role of Mrc1 does not involve its checkpoint function. Thus, chromosomal fragility might occur when forks stalled at expanded CGG repeats escape the S-phase checkpoint.
Voineagu
Irina
I
Department of Biology, Tufts University, 165 Packard Avenue, Medford, Massachusetts 02155, USA.
Surka
Christine F
CF
Shishkin
Alexander A
AA
Krasilnikova
Maria M
MM
Mirkin
Sergei M
SM
D000818:Animals; D019556:COS Cells; D002522:Chlorocebus aethiops; D002873:Chromosome Fragility; D004261:DNA Replication; D006801:Humans; D012441:Saccharomyces cerevisiae / Q000378:metabolism; D018911:Trinucleotide Repeats