We have reported a computational method to detect the haplotypes harboring polymorphic gene duplications in the human genome variation dataset. This study is now published in Genome Biology and Evolution. The maestro (is it maestra?), herself drew an amazing image to accompany the piece (hopefully the next cover of the journal?). Polymorphic duplications can be a source of new genes and contribute to human phenotypic diversity. Our method allows us to study the evolution of gene duplication in detail and assess the phenotypic effect of the duplication.
Using this approach, we identified the insertion sites of 22 common polymorphic duplications, including duplications significant associations to blood and skin phenotypes. One interesting example of these genes is the duplication of a well-characterized pigmentation-related region, including the HERC2 gene. Our analyses showed that the HERC2 gene duplication may be selected against in European populations. This HERC2 duplication was inserted in its downstream homologous gene the HERC2P9 and affects the expression of the HERC2P9 gene.
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