Kateryna Makova | Eberly College of Science

Dr. Makova is interested in molecular evolution, population genetics, evolutionary genomics, bioinformatics, and human genetics. Her laboratory employs a combination of molecular and computational approaches. Some of the current projects include:

Male Mutation Bias, or Male-Driven Evolution

As the number of cell divisions is higher in the male germ line compared to the female germ line, the number of mutations originating in males is also higher than in females. The underlying assumption is that mutations are replication-driven. The Y chromosome mutates faster than the X, while autosomes have an intermediate mutation rate. This is because the Y is carried only by males, autosomes spend equal amount of time in males and females, and the X spends one-third of the time in males and two-thirds of the time in females. Thus, by studying mutations on different types of chromosomes, one can investigate the male-to-female mutation rate ratio. The research focuses on estimating the male-to-female mutation rate ratio for different types of mutations (nucleotide substitutions, insertions and deletions, and changes in the microsatellite repeat number) and for different organisms (primates and rodents as well as other mammals). This project is critical for genetic counseling (how important is the age of a male at the time of reproduction?) as well as for our understanding of mutation mechanisms.

Evolution of Gene Expression

While we now have some information about the evolution of the protein coding genes, there is a paucity of knowledge about evolution of gene expression. For instance, does the divergence in gene expression correlate with the protein sequence divergence? In other words, are the evolution of coding region and the evolution of mRNA expression coupled? One can have some insight into this question by analyzing the tempo of expression divergence between duplicate genes in a genome. A general picture is now achievable thanks to the advent of microarray gene expression technology and the complete sequences of many genomes. Another area of interest is population genetics and molecular evolution of promoters.

Human Population Genomics

With the completion of the Human Genome Project, it is possible to study human population genetics on a whole-genome scale. Such an approach is more robust compared with the earlier single locus studies. Specific questions include detecting positive selection and studying patterns of linkage disequilibrium. Population genetics and molecular evolution of genes important for human skin pigmentation are of particular interest. The results of this investigation will provide direct information on the usefulness of particular populations and of particular genetic polymorphisms for disease gene identification studies. This project is pursued in collaboration with Dr. Mark Shriver from the Department of Anthropology.