MBE Advance Access published online on February 12, 2004
Molecular Biology and Evolution, doi:10.1093/molbev/msh070
Molecular Biology and Evolution © Society for Molecular Biology and Evolution 2004; all rights reserved
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1 UMR 5558 CNRS, Université Lyon I, 16 rue Raphael Dubois, 69622 Villeurbanne cedex, France
* To whom correspondence should be addressed. E-mail: meunier{at}biomserv.univ-lyon1.fr.
Unraveling the evolutionary forces responsible for variations of neutral substitution patterns among taxa or along genomes is a major issue to allow the identification of functional sequence features. Mammalian genomes show large scale regional variations of GC-content (the isochores), but the substitution processes at the origin of this structure are poorly understood. Here, we analyzed the pattern of neutral substitutions in 14.3 Mb of primate non-coding regions. We show that the GC-content toward which sequences are evolving is strongly correlated (r2 = 0.61; p Key Words:
isochore, recombination, biased gene conversion, GC-content, human genome
© 2004 Society for Molecular Biology and Evolution
Original Articles
Recombination Drives the Evolution of GC-Content in the Human Genome
Abstract 
2.10-16) with the rate of crossovers (notably in females). This demonstrates that recombination drives the evolution of base composition in human (probably via the process of biased gene conversion). The present substitution patterns are very different from what they had been in the past, resulting in a major modification of the isochore structure of our genome. This non-equilibrium situation suggests that changes of recombination rates occur relatively frequently during evolution, possibly as a consequence of karyotype rearrangements. These results have important implications for understanding the spatial and temporal variations of substitution processes in a broad range of sexual organisms, and for detecting the hallmarks of natural selection in DNA sequences.
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