MBE Advance Access published online on October 31, 2003
Molecular Biology and Evolution, doi:10.1093/molbev/msh008
Molecular Biology and Evolution © Society for Molecular Biology and Evolution 2003; all rights reserved
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1 Department of Evolutionary Biology, Evolutionary Biology Centre, Uppsala University, Norbyvägen 18D, SE-752 36 Uppsala, Sweden
* To whom correspondence should be addressed. E-mail: Hans.Ellegren{at}ebc.uu.se.
Sex chromosomes provide a useful context for the study of the relative importance of evolutionary forces affecting genetic diversity. The human Y chromosome shows levels of nucleotide diversity 20% that of autosomes, which is significantly less than expected when differences in effective population size and sex-specific mutation rates are taken into account. To study the generality of low levels of Y chromosome variability in mammalian genomes we investigated nucleotide diversity in intron sequences of X (1.1-3.0 kb) and Y (0.7-3.5 kb) chromosome genes of five mammals: lynx, wolf, reindeer, cattle and field vole. For all species nucleotide diversity was found to be lower on Y than on X, with no segregating site observed in Y-linked sequences of lynx, reindeer and cattle. For X chromosome sequences, nucleotide diversity was in the range of 1.6x10-4 (lynx) to 8.0x10-4 (field vole). When differences in effective population size and the extent of the male mutation bias were taken into account, all five species showed evidence of reduced levels of Y chromosome variability. Reduced levels of Y chromosome variability has also been observed in Drosophila and plants, and in the female-specific W chromosome of birds. Among the different factors proposed to explain low levels of genetic variability in the sex-limited chromosome (Y/W), we note that selection is the only factor that is broadly applicable irrespective of mode of reproduction and whether there is male or female heterogamety. Key Words:
sex chromosomes, effective population size, male mutation bias, selective sweeps, background selection
© 2003 Society for Molecular Biology and Evolution
Original Articles
Low Levels of Nucleotide Diversity in Mammalian Y Chromosomes
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