Article,
Differences in the rare variant spectrum among human populations
PLOS Genetics, 13 (2): 1-17 (February 2017)
DOI: 10.1371/journal.pgen.1006581
Abstract
Author summary Genetic variation among humans is built up by a constant stream of new mutations. New mutations appear every generation because of unrepaired DNA damage, or copying errors in DNA replication. Differences between populations in the rate or types of mutations that appear are one of several factors that affect patterns of genetic variation. Here, we examined genomes from all major world populations, looking at patterns of variation to see whether different types of rare variant were more common in different parts of the world. We found two types of variant that had this property. The first is more common in Western Eurasia than in other parts of the world and seems to be related to an historical increase in the rate of a specific kind of mutation. The second type of variant–C>T changes at CpG sites–is more common in Native Americans, not because mutation rates are different, but because these mutations occur at a very high rate, and this kind of variation is very sensitive to differences in demographic history between populations. These results demonstrate the importance of considering both mutation and demography in the interpretation of genetic variation.
