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• Merienne, K
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• Merienne, K

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Genes 2013, 4(3), 375-387; doi:10.3390/genes4030375

Review

Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism

Agathi-Vasiliki Goula and Karine Merienne *

Programme of Translational Medicine and Neurogenetics, Institute of Genetics and Molecular and Cellular Biology (IGBMC), UMR 7104-CNRS/INSERM/Uds, 1 rue Laurent Fries, 67404 Illkirch, France

* Author to whom correspondence should be addressed.

Received: 2 May 2013; in revised form: 25 June 2013 / Accepted: 26 June 2013 / Published: 25 July 2013

(This article belongs to the Special Issue Microsatellite Instability)

Download PDF Full-Text [324 KB, uploaded 25 July 2013 09:55 CEST]

Abstract: More than fifteen genetic diseases, including Huntington’s disease, myotonic dystrophy 1, fragile X syndrome and Friedreich ataxia, are caused by the aberrant expansion of a trinucleotide repeat. The mutation is unstable and further expands in specific cells or tissues with time, which can accelerate disease progression. DNA damage and base excision repair (BER) are involved in repeat instability and might contribute to the tissue selectivity of the process. In this review, we will discuss the mechanisms of trinucleotide repeat instability, focusing more specifically on the role of BER.

Keywords: trinucleotide repeat diseases; instability; BER

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