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Makova Honored as Penn State's Francis R. Pentz and Helen M. Pentz Professor of Science

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7 October 2013

Kateryna Makova, a professor of biology at Penn State University, has been honored by the University's Eberly College of Science by being appointed the Francis R. and Helen M. Pentz Professor of Science. The Pentz professorship was established in 1989 to provide outstanding faculty members with the resources necessary to further their teaching, research, and public service.

Makova's laboratory uses both computational and experimental methods to investigate genetic mutations, or changes in DNA. She and her team members scrutinize the variability in the rates and patterns of different types of mutations among regions in vertebrate genomes. Such inquiries allow her group to make inferences about the molecular mechanisms leading to mutations that are the cause of human genetic diseases.

Specifically, Makova and her lab have studied male mutation bias -- a higher rate of DNA mutation in males than in females because of the greater number of germline cell divisions in males. They have discovered that human mutation hotspots called CpG sites have a weak bias in males, and have confirmed that such hotspots are caused by spontaneous processes unrelated to DNA replication. By analyzing 32 sequenced mammal genomes, Makova's lab discovered that the interval of time between an individual's birth and the birth of its offspring -- known as generation time -- is the major factor that determines variation in male mutation bias. Makova's long-term collaborator on these projects is Francesca Chairomonte, a professor in Penn State's Department of Statistics.

Makova's studies also include intrachromosomal variation in mutation rates, a phenomenon about which her group recently published a paper, co-authored with Chiaromonte, in the Proceedings of the National Academy of the United States of America. In addition, she has developed a computational model predicting mutation rates at locations on the DNA molecule called microsatellites. This research is a collaboration with Kristin Eckert, a professor of pathology at Penn State's College of Medicine, and is of significance to human health because microsatellites are implicated in cancer and numerous neurological disorders. Additionally, her models guide the choice of microsatellites for use in forensic and conservation-genetics studies.

Makova is the director for the Center of Medical Genomics, an organization that brings together Penn State researchers in medicine, genomics, molecular biology, and statistics to advance basic genomic research and translate that research into new diagnostic, therapeutic, and preventive medical strategies. Her laboratory is also a part of the 1,000 Genomes Project Indel Analysis Group. In addition, Makova is a member of the Society for Molecular Biology and Evolution, and she serves on the editorial boards of the journals Genome Research, Genome Biology and Evolution, and Biology Direct. She also has served as a conference organizer for scientific symposia in the United States and abroad.

Makova was a member of the Rat, Chicken, Chimpanzee, and Macaque Genome Consortia. The information derived from genomes from these animals is instrumental for interpreting the human genome, which is largely undecipherable without comparing it to that of related species.

Makova earned a doctoral degree in biology at Texas Tech University in 1999 and a master's degree in biochemistry and molecular biology at the Kiev State University in Ukraine in 1995. Prior to joining the Penn State faculty in 2003, she had been a postdoctoral fellow in the Department of Ecology and Evolution at the University of Chicago since 1999.


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