复制体在CGG重复序列处停滞并稳定下来，而CGG重复序列是导致染色体脆性的原因。
Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility.
作者信息
Voineagu Irina, Surka Christine F, Shishkin Alexander A, Krasilnikova Maria M, Mirkin Sergei M
机构信息
Department of Biology, Tufts University, 165 Packard Avenue, Medford, Massachusetts 02155, USA.
出版信息
Nat Struct Mol Biol. 2009 Feb;16(2):226-8. doi: 10.1038/nsmb.1527. Epub 2009 Jan 11.
Abstract
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.
摘要
扩展的CGG重复序列会导致人类染色体脆性和遗传性神经疾病。在灵长类细胞和酵母中，复制叉会以长度依赖的方式在CGG重复序列处停滞。酿酒酵母蛋白Tof1和Mrc1促进复制叉通过CGG重复序列前进。值得注意的是，Mrc1的叉稳定作用并不涉及其检查点功能。因此，当在扩展的CGG重复序列处停滞的复制叉逃脱S期检查点时，可能会发生染色体脆性。
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