PhD, Autumn 2014, in the Commitee on Genetics, Genomics, and Systems Biology.
Evolution of polymorphic gene duplicates
Together with Nick VanKuren, I study the evolutionary and functional implications of copy number variation in Drosophila melanogaster. We are using novel applications of next generation sequencing and classic molecular biology techniques to analyze the sequence variation within and around polymorphic gene duplicates. Our aim is to determine which evolutionary forces determine the fates of the youngest of new gene duplications: those not yet fixed in a species.
Figure: Tajima's D contrasted between lines with, and without a polymorphic duplication
The phenotypic impact of new gene duplicates in humans
In work following from my collaboration with Yong Zhang, a former post-doc in the lab, I have determined the age distribution of disease-implicated genes in the human genome. When the categories of organs and tissues were contrasted, I found that new genes, those originating in the human lineage after the primate common ancestor, were disproportionately represented among those affecting the central nervous system. This result corroborates our earlier finding that new genes are disproportionately recruited into the transcriptome of the fetal prefrontal cortex (Zhang et al. 2011). In addition, we found that genes implicated in male fertility originated at twice the rate as of those implicated in female fertility, paralleling studies showing higher rates of sequence evolution in male-related genes.
Figure: The proportion of genes implicated in different disease categories, arising over time