IMR Press / FBL / Volume 13 / Issue 12 / DOI: 10.2741/3017

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article
Tandem repeats in human disorders: mechanisms and evolution
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1 Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Academic Editor:Haseeb Ahmad Khan
Front. Biosci. (Landmark Ed) 2008, 13(12), 4467–4484; https://doi.org/10.2741/3017
Published: 1 May 2008
(This article belongs to the Special Issue Molecular biology in clinical practice)
Abstract

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.

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