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Updated: Jul 4, 2026

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome
Published on: September 13, 2024
Tandem repeats in human disorders: mechanisms and evolution
Pratibha Siwach1, Subramaniam Ganesh
1Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India.
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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