Estimation of genetic distances from human and mouse introns

Genome Biol. 2002;3(6):RESEARCH0028. doi: 10.1186/gb-2002-3-6-research0028. Epub 2002 May 14.


Background: Using genetic distances measured from exons, it has been observed that the mutation rate is not constant along mammalian chromosomes. Exons constitute only 1% of the human genome, however, and thus they cannot provide a complete picture of the mutational variation in the genome.

Results: I calculated genetic distances between 504 human introns and their orthologous mouse counterparts from a set of 63 pairs of human and mouse genes scattered through the genome using a recently developed method that can extract reliably aligned regions from the introns in an objective manner. I found a significant correlation between the genetic distance measured in the conserved intron segments and the synonymous and nonsynonymous distances measured in the corresponding coding exons, indicating that genes with fast-evolving exons tend to have fast-evolving introns, and vice versa.

Conclusions: These results indicate that introns, which extend over almost a quarter of the human genome, contain useful information for fully understanding the mutational dynamics of human and mouse genomes. This work also supports the idea that there is a mutational force that fluctuates nonrandomly along the genome, and shows for the first time that this force affects the introns and the synonymous and nonsynonymous positions in the exons of the genes simultaneously.

MeSH terms

  • Animals
  • Base Sequence / genetics
  • Chromosome Mapping / methods*
  • Computational Biology
  • Exons / genetics
  • Humans
  • Introns / genetics*
  • Mice
  • Molecular Sequence Data
  • Sequence Alignment / methods
  • Sequence Homology, Nucleic Acid