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Are There Rearrangement Hotspots in the Human Genome?

In a landmark paper, Nadeau and Taylor [18] formulated the random breakage model (RBM) of chromosome evolution that postulates that there are no rearrangement hotspots in the human genome. In the next two decades, numerous studies with progressively increasing levels of resolution made RBM the de fa...

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Autores principales: Alekseyev, Max A, Pevzner, Pavel A
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2065889/
https://www.ncbi.nlm.nih.gov/pubmed/17997591
http://dx.doi.org/10.1371/journal.pcbi.0030209
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author Alekseyev, Max A
Pevzner, Pavel A
author_facet Alekseyev, Max A
Pevzner, Pavel A
author_sort Alekseyev, Max A
collection PubMed
description In a landmark paper, Nadeau and Taylor [18] formulated the random breakage model (RBM) of chromosome evolution that postulates that there are no rearrangement hotspots in the human genome. In the next two decades, numerous studies with progressively increasing levels of resolution made RBM the de facto theory of chromosome evolution. Despite the fact that RBM had prophetic prediction power, it was recently refuted by Pevzner and Tesler [4], who introduced the fragile breakage model (FBM), postulating that the human genome is a mosaic of solid regions (with low propensity for rearrangements) and fragile regions (rearrangement hotspots). However, the rebuttal of RBM caused a controversy and led to a split among researchers studying genome evolution. In particular, it remains unclear whether some complex rearrangements (e.g., transpositions) can create an appearance of rearrangement hotspots. We contribute to the ongoing debate by analyzing multi-break rearrangements that break a genome into multiple fragments and further glue them together in a new order. In particular, we demonstrate that (1) even if transpositions were a dominant force in mammalian evolution, the arguments in favor of FBM still stand, and (2) the “gene deletion” argument against FBM is flawed.
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spelling pubmed-20658892007-11-29 Are There Rearrangement Hotspots in the Human Genome? Alekseyev, Max A Pevzner, Pavel A PLoS Comput Biol Research Article In a landmark paper, Nadeau and Taylor [18] formulated the random breakage model (RBM) of chromosome evolution that postulates that there are no rearrangement hotspots in the human genome. In the next two decades, numerous studies with progressively increasing levels of resolution made RBM the de facto theory of chromosome evolution. Despite the fact that RBM had prophetic prediction power, it was recently refuted by Pevzner and Tesler [4], who introduced the fragile breakage model (FBM), postulating that the human genome is a mosaic of solid regions (with low propensity for rearrangements) and fragile regions (rearrangement hotspots). However, the rebuttal of RBM caused a controversy and led to a split among researchers studying genome evolution. In particular, it remains unclear whether some complex rearrangements (e.g., transpositions) can create an appearance of rearrangement hotspots. We contribute to the ongoing debate by analyzing multi-break rearrangements that break a genome into multiple fragments and further glue them together in a new order. In particular, we demonstrate that (1) even if transpositions were a dominant force in mammalian evolution, the arguments in favor of FBM still stand, and (2) the “gene deletion” argument against FBM is flawed. Public Library of Science 2007-11 2007-11-09 /pmc/articles/PMC2065889/ /pubmed/17997591 http://dx.doi.org/10.1371/journal.pcbi.0030209 Text en © 2007 Alekseyev and Pevzner. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Alekseyev, Max A
Pevzner, Pavel A
Are There Rearrangement Hotspots in the Human Genome?
title Are There Rearrangement Hotspots in the Human Genome?
title_full Are There Rearrangement Hotspots in the Human Genome?
title_fullStr Are There Rearrangement Hotspots in the Human Genome?
title_full_unstemmed Are There Rearrangement Hotspots in the Human Genome?
title_short Are There Rearrangement Hotspots in the Human Genome?
title_sort are there rearrangement hotspots in the human genome?
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2065889/
https://www.ncbi.nlm.nih.gov/pubmed/17997591
http://dx.doi.org/10.1371/journal.pcbi.0030209
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