Are There 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.

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

CONTACT:

Max Alekseyev
(858)-534-5932
Department of Computer Science and Engineering
University of California, San Diego
La Jolla, CA 92093-0404
maxal@cs.ucsd.edu
Pavel Pevzner
(858)-822-4365
Department of Computer Science and Engineering
University of California, San Diego
9500 Gilman Drive, Mail Code 0404
La Jolla, CA 92039-0404
ppevzner@cs.ucsd.edu
PLoS Contact:
Mary Kohut
(415)-568-3460
Public Library of Science
mkohut@plos.org