This article is copyright 2003, Proceedings of the National Academy of Sciences U.S.A.


Pavel Pevzner and Glenn Tesler
Human and mouse genomic sequences reveal extensive breakpoint reuse in mammalian evolution, Proceedings of the National Academy of Sciences U.S.A., 100 no. 13 (2003), 7672-7677.


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Abstract

The human and mouse genomic sequences provide evidence for a larger number of rearrangements than previously thought and reveal extensive re-use of breakpoints from the same short fragile regions. Breakpoint clustering in regions implicated in cancer and infertility was reported in previous studies; this is the first report of breakpoint clustering in chromosome evolution. This clustering reveals limitations of the widely accepted random breakage theory that has remained unchallenged since the mid 1980s. The genome rearrangement analysis of the human and mouse genomes implies the existence of a large number of very short ``hidden'' synteny blocks that were invisible in the comparative mapping data and were ignored in the random breakage model. These blocks are defined by closely located breakpoints and are often hard to detect. Our results suggest a new model of chromosome evolution, which postulates that mammalian genomes are mosaics of fragile regions with high propensity for rearrangements and solid regions with low propensity for rearrangements.