Abstract
AbstractPopulation genetic inference of selection on the nucleotide sequence level often proceeds by comparison to a reference sequence evolving only under mutation and population demography. Among the few candidates for such a reference sequence is the 5’ part of short introns (5SI) inDrosophila. In addition to mutation and population demography, however, there is evidence for a weak force favoringGCbases, likely due toGC-biased gene conversion (gBGC), and for the effect of linked selection. Here, we use polymorphism and divergence data ofDrosophila melanogasterto detect and describe the forces affecting the evolution of the 5SI. We separately analyze mutation classes, compare them between chromosomes, and relate them to recombination rate frequencies.GC-conservative mutations seem to be mainly influenced by mutation and drift, with linked selection mostly causing differences between the central and the peripheral (i.e., telomeric and centromeric) regions of the chromosome arms. ComparingGC-conservative mutation patterns between autosomes and the X chromosome, showed differences in mutation rates, rather than linked selection, in the central chromosomal regions after accounting for differences in effective populations sizes. On the other hand,GC-changing mutations show asymmetric site frequency spectra, indicating the presence of gBGC, varying among mutation classes and in intensity along chromosomes, but approximately equal in strength in autosomes and the X chromosome.
Publisher
Cold Spring Harbor Laboratory