Genomic features in the breakpoint regions between syntenic blocks

Bioinformatics. 2004 Aug 4:20 Suppl 1:i318-25. doi: 10.1093/bioinformatics/bth934.

Abstract

Motivation: We study the largely unaligned regions between the syntenic blocks conserved in humans and mice, based on data extracted from the UCSC genome browser. These regions contain evolutionary breakpoints caused by inversion, translocation and other processes.

Results: We suggest explanations for the limited amount of genomic alignment in the neighbourhoods of breakpoints. We discount inferences of extensive breakpoint reuse as artefacts introduced during the reconstruction of syntenic blocks. We find that the number, size and distribution of small aligned fragments in the breakpoint regions depend on the origin of the neighbouring blocks and the other blocks on the same chromosome. We account for this and for the generalized loss of alignment in the regions partially by artefacts due to alignment protocols and partially by mutational processes operative only after the rearrangement event. These results are consistent with breakpoints occurring randomly over virtually the entire genome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms*
  • Base Sequence
  • Chromosome Mapping / methods*
  • Conserved Sequence / genetics
  • Evolution, Molecular*
  • Genetic Variation / genetics*
  • Molecular Sequence Data
  • Sequence Alignment / methods*
  • Sequence Analysis, DNA / methods*
  • Synteny / genetics*