Siwach Pratibha, Ganesh Subramaniam
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India.
Front Biosci. 2008 May 1;13:4467-84. doi: 10.2741/3017.
One of the most compelling reasons for the study of repetitive DNA sequence in the human genome has been the instability of simple repeat sequences associating with a growing and an interesting group of disorders affecting the neurological, neuromuscular or developmental processes. As a result, the molecular processes that underlie this unique form of mutation and the pathological pathways that lead to the disorders are being uncovered rapidly and are being intensively investigated. Genes with expanded repeats exhibit either loss-of-function or gain-of-function effect at the protein and/or RNA level. In this review, we aim to provide an overview of the recent advances in molecular pathology of disorders associated with heritable changes in the length of the repeat sequences, and examine how dynamism in these repeats is regulated.
对人类基因组中的重复DNA序列进行研究的最令人信服的原因之一，是简单重复序列的不稳定性，它与影响神经、神经肌肉或发育过程的越来越多且有趣的一组疾病相关。因此，这种独特的突变形式背后的分子过程以及导致这些疾病的病理途径正在迅速被揭示，并正在得到深入研究。具有扩展重复序列的基因在蛋白质和/或RNA水平上表现出功能丧失或功能获得效应。在这篇综述中，我们旨在概述与重复序列长度的可遗传变化相关的疾病的分子病理学的最新进展，并研究这些重复序列中的动态变化是如何被调控的。
