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三核苷酸重复扩增:时机至关重要。

Trinucleotide repeat expansions: timing is everything.

作者信息

Nag Dilip K

机构信息

Molecular Genetics Program, Wadsworth Center, 120 New Scotland Avenue, Albany, NY 12208, USA.

出版信息

Trends Mol Med. 2003 Nov;9(11):455-7. doi: 10.1016/j.molmed.2003.09.007.

Abstract

The expansion of trinucleotide repeats is known to cause a growing number of human diseases. However, the mechanism and timing of expansions are poorly understood. Recent studies indicate that expansion mutations occur by multiple pathways during both meiotic and mitotic divisions, and at various stages of cell division. In addition, mismatch repair proteins play a major part in generating expansions.

摘要

已知三核苷酸重复序列的扩增会引发越来越多的人类疾病。然而,扩增的机制和时机却鲜为人知。最近的研究表明,扩增突变在减数分裂和有丝分裂过程中的多个途径以及细胞分裂的各个阶段都会发生。此外,错配修复蛋白在产生扩增中起主要作用。

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