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Human and mouse genomic sequences reveal extensive breakpoint reuse in mammalian evolution.


ABSTRACT: The human and mouse genomic sequences provide evidence for a larger number of rearrangements than previously thought and reveal extensive reuse of breakpoints from the same short fragile regions. Breakpoint clustering in regions implicated in cancer and infertility have been reported in previous studies; we report here on 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 ignored in the random breakage model. These blocks are defined by closely located breakpoints and are often hard to detect. Our results suggest a model of chromosome evolution that postulates that mammalian genomes are mosaics of fragile regions with high propensity for rearrangements and solid regions with low propensity for rearrangements.

SUBMITTER: Pevzner P 

PROVIDER: S-EPMC164646 | biostudies-literature | 2003 Jun

REPOSITORIES: biostudies-literature

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Human and mouse genomic sequences reveal extensive breakpoint reuse in mammalian evolution.

Pevzner Pavel P   Tesler Glenn G  

Proceedings of the National Academy of Sciences of the United States of America 20030616 13


The human and mouse genomic sequences provide evidence for a larger number of rearrangements than previously thought and reveal extensive reuse of breakpoints from the same short fragile regions. Breakpoint clustering in regions implicated in cancer and infertility have been reported in previous studies; we report here on breakpoint clustering in chromosome evolution. This clustering reveals limitations of the widely accepted random breakage theory that has remained unchallenged since the mid-19  ...[more]

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