Advances in mechanisms of genetic instability related to hereditary neurological diseases.
Advances in mechanisms of genetic instability related to hereditary neurological diseases.
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DOI：
10.1093/nar/gki697
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发表时间：
2005
影响因子：
14.9
通讯作者：
Son LS
中科院分区：
文献类型：
--
作者：
Wells RD;Dere R;Hebert ML;Napierala M;Son LS
在过去几年中，我们对与许多遗传性神经系统疾病相关的重复三、四和五核苷酸重复序列的扩增和缺失（遗传不稳定性）的分子机制的理解取得了实质性进展。这些不稳定性发生在复制、重组和修复过程中，由于DNA互补链相对于彼此的滑动，这些过程可能协同作用。折叠后重复序列链的生物物理特性在这些不稳定性中起着关键作用。描述了非b DNA结构元件（发夹和滑动结构，DNA解绕元件，四联体，三联体和粘性DNA）。复制机制受复制叉的暂停，重复链的方向，重复序列相对于复制起点的位置和皮瓣内切酶的影响。讨论了甲基定向错配修复、核苷酸切除修复和诱变剂引起的损伤修复。综述了大肠杆菌、酵母和哺乳动物模型中基因重组和双链断裂修复的研究进展。此外，还讨论了新发现的某些三联体重复序列引起总体染色体重排的能力。
Substantial progress has been realized in the past several years in our understanding of the molecular mechanisms responsible for the expansions and deletions (genetic instabilities) of repeating tri-, tetra- and pentanucleotide repeating sequences associated with a number of hereditary neurological diseases. These instabilities occur by replication, recombination and repair processes, probably acting in concert, due to slippage of the DNA complementary strands relative to each other. The biophysical properties of the folded-back repeating sequence strands play a critical role in these instabilities. Non-B DNA structural elements (hairpins and slipped structures, DNA unwinding elements, tetraplexes, triplexes and sticky DNA) are described. The replication mechanisms are influenced by pausing of the replication fork, orientation of the repeat strands, location of the repeat sequences relative to replication origins and the flap endonuclease. Methyl-directed mismatch repair, nucleotide excision repair, and repair of damage caused by mutagens are discussed. Genetic recombination and double-strand break repair advances in Escherichia coli, yeast and mammalian models are reviewed. Furthermore, the newly discovered capacities of certain triplet repeat sequences to cause gross chromosomal rearrangements are discussed.
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