Simple mathematical model of pathologic microsatellite expansions: when self-reparation does not work

DOI10.1016/J.JTBI.2006.03.008zbMATH Open1447.92109arXiv0707.4318OpenAlexW1969145487WikidataQ51941815 ScholiaQ51941815MaRDI QIDQ2201886FDOQ2201886

Authors: Boris Veytsman, Leila Akhmadeyeva 

Publication date: 17 September 2020

Published in: Journal of Theoretical Biology (Search for Journal in Brave)

Abstract: We propose a simple model of pathologic microsatellite expansion, and describe an inherent self-repairing mechanism working against expansion. We prove that if the probabilities of elementary expansions and contractions are equal, microsatellite expansions are always self-repairing. If these probabilities are different, self-reparation does not work. Mosaicism, anticipation and reverse mutation cases are discussed in the framework of the model. We explain these phenomena and provide some theoretical evidence for their properties, for example the rarity of reverse mutations.

Full work available at URL: https://arxiv.org/abs/0707.4318

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zbMATH Keywords

mathematical modelmyotonic dystrophyfragile XHuntington diseasemicrosatellite expansion

Mathematics Subject Classification ID

Pathology, pathophysiology (92C32)

Cites Work

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• Microsatellite mutations during the polymerase chain reaction: mean field approximations and their applications

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