Rearrangement Hot Spots In The Human Genome

Main Category: Genetics
Article Date: 12 Nov 2007 - 1:00 PDT

email to a friend   printer friendly   view / write opinions   rate article

The debate over the validity of genomic rearrangement "hotspots" has its most recent addition in a new theory put forth by researchers at the University of California San Diego. The study, published in PLoS Computational Biology, holds that there are indeed rearrangement hotspots in the human genome.

Doctors Max Alekseyev and Pavel Pevzner developed a theory for analyzing complex rearrangements (including transpositions) which demonstrates that even if transpositions were a dominant evolutionary force, there are still rearrangement hotspots in mammalian genomes.

In 1970 the random breakage model (RBM) was proposed by Susumo Ohno, and later formalized by Nadeau and Taylor in 1984. This model postulates that rearrangements are "random," and thus there are no rearrangement hotspots in mammalian genomes. Biologists largely embraced the model as it held such predictive powers.

However, in 2003 the model was refuted by Pevzner and Tesler, who suggested an alternative fragile breakage model (FBM) of chromosome evolution. FBM implies that the human genome is a mosaic of solid regions with low propensity for rearrangements and fragile regions where rearrangement hotspots reside. The rebuttal of RBM resulted in a rebuttal of the rebuttal, and a scientific divide was begun.

Most recent studies support the existence of rearrangement hotspots, but some researchers still uphold the RBM model. This study represents a major advance in the debate.

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

CITATION:
Alekseyev MA, Pevzner PA (2007) Are there rearrangement hotspots in the human genome?
PLoS Comput Biol 3(11): e209. doi:10.1371/journal.pcbi.0030209

CONTACTS:

Max Alekseyev
Department of Computer Science and Engineering
University of California, San Diego
La Jolla, CA 92093-0404

Pavel Pevzner
Department of Computer Science and Engineering
University of California, San Diego
9500 Gilman Drive, Mail Code 0404
La Jolla, CA 92039-0404

PLoS
Mary Kohut
Public Library of Science

Click here to view the freely available text.

PLoS Computational Biology is an open-access, peer-reviewed journal published weekly by the Public Library of Science (PLoS) as the official journal of the International Society for Computational Biology (ISCB).

Disclaimer

This press release refers to an upcoming article in PLoS Computational Biology. The release is provided by journal staff. Any opinions expressed in this release or article are the personal views of the journal staff and/or article contributors, and do not necessarily represent the views or policies of PLoS. PLoS expressly disclaims any and all warranties and liability in connection with the information found in the releases and articles and your use of such information.

About PLoS Computational Biology

PLoS Computational Biology features works of exceptional significance that further our understanding of living systems at all scales through the application of computational methods. All works published in PLoS Computational Biology are open access. Everything is immediately available subject only to the condition that the original authorship and source are properly attributed. Copyright is retained by the authors. The Public Library of Science uses the Creative Commons Attribution License.

About the Public Library of Science

The Public Library of Science (PLoS) is a non-profit organization of scientists and physicians committed to making the world's scientific and medical literature a freely available public resource. For more information, visit http://www.plos.org/.

Source: Mary Kohut
Public Library of Science