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MBE Advance Access published online on February 12, 2004
Molecular Biology and Evolution, doi:10.1093/molbev/msh076
Molecular Biology and Evolution © Society for Molecular Biology and Evolution 2004; all rights reserved
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Accepted December 10, 2003
© 2004 Society for Molecular Biology and Evolution

Original Articles

Two Patterns of Genome Organization in Mammals: The Chromosomal Distribution of Duplicate Genes in Human and Mouse

Robert Friedman 1 and Austin L. Hughes 1*

1 Department of Biological Sciences, University of South Carolina, Columbia SC 29208 USA

* To whom correspondence should be addressed. E-mail: austin{at}biol.sc.edu.


  Abstract

Gene duplication occurs repeatedly in the evolution of genomes, and the rearrangement of genomic segments has also occurred repeatedly over the evolution of eukaryotes. We studied the interaction of these two factors in mammalian evolution by comparing the chromosomal distribution of multi-gene families in human and mouse. In both species, gene families tended to be confined to a single chromosome to a greater extent than expected by chance. The average number of families shared between chromosomes was nearly 60% higher in mouse than in human, and human chromosomes rarely shared large numbers of gene families with more than one or two other chromosomes, whereas mouse chromosomes frequently did so. A higher proportion of duplicate gene pairs on the same chromosome originated from recent duplications in human than in mouse, whereas a higher proportion of duplicate gene pairs on separate chromosomes arose from ancient duplications in human than in mouse. These observations are most easily explained on the hypotheses that (1) most gene duplications arise in tandem and are subsequently separately by segmental rearrangement events; and (2) that the process of segmental rearrangement has occurred at a higher rate in the lineage of mouse than in that of human.

Key Words: chromosome evolution, gene duplication, genome evolution, nucleotide substitution, segmental rearrangement


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