The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements
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Date
2008Author
Marques-Bonet, Tom�s
Cheng, Ze
She, Xinwei
Eichler, Evan E.
Navarro, Arcadi
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Background: It has been suggested that chromosomal rearrangements harbor the molecular footprint of the biological phenomena which they induce, in the form, for instance, of changes in the sequence divergence rates of linked genes. So far, all the studies of these potential associations have focused on the relationship between structural changes and the rates of evolution of singlecopy
DNA and have tried to exclude segmental duplications (SDs). This is paradoxical, since SDs are one of the primary forces driving the evolution of structure and function in our genomes and have been linked not only with novel genes acquiring new functions, but also with overall higher
DNA sequence divergence and major chromosomal rearrangements.
Results: Here we take the opposite view and focus on SDs. We analyze several of the features of SDs, including the rates of intraspecific divergence between paralogous copies of human SDs and
of interspecific divergence between human SDs and chimpanzee DNA. We study how divergence measures relate to chromosomal rearrangements, while considering other factors that affect
evolutionary rates in single copy DNA.
Conclusion: We find that interspecific SD divergence behaves similarly to divergence of singlecopy DNA. In contrast, old and recent paralogous copies of SDs do present different patterns of
intraspecific divergence. Also, we show that some relatively recent SDs accumulate in regions that carry inversions in sister lineages.