Kateryna Makova
Director of the Center for Medical Genomics; Professor of Biology

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305 Wartik Lab
University Park, PA 16802 - kdm16@psu.edu
- 814-863-1619
Research Summary
Molecular evolution, population genetics, evolutionary genomics, bioinformatics, and human genetics.
Huck Graduate Students
Huck Affiliations
- Bioinformatics and Genomics
- Molecular, Cellular, and Integrative Biosciences
- Center for Medical Genomics
Links
Publication Tags
Genome Human Genome Data Analysis Y Chromosome Mutation Child Vertebrates Chromatin Obesity Growth Mitochondrial Dna Nurses Genomics Microsatellite Repeats Single Nucleotide Polymorphism Parenting Genes Mutation Rate Pan Troglodytes Weights And Measures Rna Dna High Throughput Nucleotide Sequencing Siblings ChromosomesMost Recent Papers
Advanced age increases frequencies of de novo mitochondrial mutations in macaque oocytes and somatic tissues
Barbara Arbeithuber, Marzia A. Cremona, James Hester, Alison Barrett, Bonnie Higgins, Kate Anthony, Francesca Chiaromonte, Francisco J. Diaz, Kateryna D. Makova, 2022, Proceedings of the National Academy of Sciences of the United States of America
Metabolomic profiling of stool of two-year old children from the INSIGHT study reveals links between butyrate and BMI
D Nandy, Craig SJC, J Cai, Y Tian, I Paul, J Savage, M Marini, E Hohman, M Reimherr, Andrew Patterson, K Makova, F Chiaromonte, 2022, Pediatric obesity on p. e12833
INSIGHT responsive parenting educational intervention for firstborns is associated with growth of second-born siblings
Jennifer Savage Williams, Anna K. Hochgraf, Eric Loken, Michele E. Marini, Sarah J.C. Craig, Kateryna D. Makova, Leann L. Birch, Ian Paul, 2022, Obesity on p. 183-190
Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome
Wilfried M. Guiblet, Michael DeGiorgio, Xiaoheng Cheng, Francesca Chiaromonte, Kristin A. Eckert, Yi Fei Huang, Kateryna D. Makova, 2021, Genome Research on p. 1136-1149
Towards complete and error-free genome assemblies of all vertebrate species
Arang Rhie, Shane A. McCarthy, Olivier Fedrigo, Joana Damas, Giulio Formenti, Sergey Koren, Marcela Uliano-Silva, William Chow, Arkarachai Fungtammasan, Juwan Kim, Chul Lee, Byung June Ko, Mark Chaisson, Gregory L. Gedman, Lindsey J. Cantin, Francoise Thibaud-Nissen, Leanne Haggerty, Iliana Bista, Michelle Smith, Bettina Haase, Jacquelyn Mountcastle, Sylke Winkler, Sadye Paez, Jason Howard, Sonja C. Vernes, Tanya M. Lama, Frank Grutzner, Wesley C. Warren, Christopher N. Balakrishnan, Dave Burt, Julia M. George, Matthew T. Biegler, David Iorns, Andrew Digby, Daryl Eason, Bruce Robertson, Taylor Edwards, Mark Wilkinson, George Turner, Axel Meyer, Andreas F. Kautt, Paolo Franchini, H. William Detrich, Hannes Svardal, Maximilian Wagner, Gavin J.P. Naylor, Martin Pippel, Milan Malinsky, Mark Mooney, Maria Simbirsky, Brett T. Hannigan, Trevor Pesout, Marlys Houck, Ann Misuraca, Sarah B. Kingan, Richard Hall, Zev Kronenberg, Ivan Sović, Christopher Dunn, Zemin Ning, Alex Hastie, Joyce Lee, Siddarth Selvaraj, Richard E. Green, Nicholas H. Putnam, Ivo Gut, Jay Ghurye, Erik Garrison, Ying Sims, Joanna Collins, Sarah Pelan, James Torrance, Alan Tracey, Jonathan Wood, Robel E. Dagnew, Dengfeng Guan, Sarah E. London, David F. Clayton, Claudio V. Mello, Samantha R. Friedrich, Peter V. Lovell, Ekaterina Osipova, Farooq O. Al-Ajli, Simona Secomandi, Heebal Kim, Constantina Theofanopoulou, Michael Hiller, Yang Zhou, Robert S. Harris, Kateryna D. Makova, Paul Medvedev, Jinna Hoffman, Patrick Masterson, Karen Clark, Fergal Martin, Kevin Howe, Paul Flicek, Brian P. Walenz, Woori Kwak, Hiram Clawson, Mark Diekhans, Luis Nassar, Benedict Paten, Robert H.S. Kraus, Andrew J. Crawford, M. Thomas P. Gilbert, Guojie Zhang, Byrappa Venkatesh, Robert W. Murphy, Klaus Peter Koepfli, Beth Shapiro, Warren E. Johnson, Federica Di Palma, Tomas Marques-Bonet, Emma C. Teeling, Tandy Warnow, Jennifer Marshall Graves, Oliver A. Ryder, David Haussler, Stephen J. O’Brien, Jonas Korlach, Harris A. Lewin, Kerstin Howe, Eugene W. Myers, Richard Durbin, Adam M. Phillippy, Erich D. Jarvis, 2021, Nature on p. 737-746
Associations between stool micro-transcriptome, gut microbiota, and infant growth.
Molly C. Carney, Xiang Zhan, Akanksha Rangnekar, Maria Z. Chroneos, Sarah J.C. Craig, Kateryna D. Makova, Ian M. Paul, Steven D. Hicks, 2021, Journal of Developmental Origins of Health and Disease on p. 1-7
Metabolomic profiling of stool of two-year old children from the INSIGHT study reveals links between butyrate and child weight outcomes
Debmalya Nandy, Sarah J.C. Craig, Jingwei Cai, Yuan Tian, Ian Paul, Jennifer Savage Williams, Michele E. Marini, Emily Hohman, Matthew Logan Reimherr, Andrew David Patterson, Kateryna Dmytrivna Makova, Francesca Chiaromonte, 2021, Pediatric obesity
Constructing a polygenic risk score for childhood obesity using functional data analysis
Sarah J.C. Craig, Ana M. Kenney, Junli Lin, Ian M. Paul, Leann L. Birch, Jennifer S. Savage, Michele E. Marini, Francesca Chiaromonte, Matthew L. Reimherr, Kateryna D. Makova, 2021, Econometrics and Statistics
Human L1 transposition dynamics unraveled with functional data analysis
Di Chen, Marzia A. Cremona, Zongtai Qi, Robi D. Mitra, Francesca Chiaromonte, Kateryna D. Makova, 2020, Molecular Biology and Evolution on p. 3576-3600
Dynamic evolution of great ape Y chromosomes
Monika Cechova, Rahulsimham Vegesna, Marta Tomaszkiewicz, Robert S. Harris, Di Chen, Samarth Rangavittal, Paul Medvedev, Kateryna D. Makova, 2020, Proceedings of the National Academy of Sciences of the United States of America on p. 26273-26280
Most-Cited Papers
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes
Stephen B. Montgomery, David L. Goode, Erika Kvikstad, Cornelis A. Albers, Zhengdong D. Zhang, Xinmeng Jasmine Mu, Guruprasad Ananda, Bryan Howie, Konrad J. Karczewski, Kevin S. Smith, Vanessa Anaya, Rhea Richardson, Joe Davis, Daniel G. MacArthur, Arend Sidow, Laurent Duret, Mark Gerstein, Kateryna D. Makova, Jonathan Marchini, Gil McVean, Gerton Lunter, 2013, Genome Research on p. 749-761
Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA
Boris Rebolledo-Jaramillo, Marcia Shu Wei Su, Nicholas Stoler, Jennifer A. McElhoe, Benjamin Dickins, Daniel Blankenberg, Thorfinn S. Korneliussen, Francesca Chiaromonte, Rasmus Nielsen, Mitchell M. Holland, Ian M. Paul, Anton Nekrutenko, Kateryna D. Makova, 2014, Proceedings of the National Academy of Sciences of the United States of America on p. 15474-15479
The effects of chromatin organization on variation in mutation rates in the genome
Kateryna D. Makova, Ross C. Hardison, 2015, Nature Reviews Genetics on p. 213-223
Towards complete and error-free genome assemblies of all vertebrate species
Arang Rhie, Shane A. McCarthy, Olivier Fedrigo, Joana Damas, Giulio Formenti, Sergey Koren, Marcela Uliano-Silva, William Chow, Arkarachai Fungtammasan, Juwan Kim, Chul Lee, Byung June Ko, Mark Chaisson, Gregory L. Gedman, Lindsey J. Cantin, Francoise Thibaud-Nissen, Leanne Haggerty, Iliana Bista, Michelle Smith, Bettina Haase, Jacquelyn Mountcastle, Sylke Winkler, Sadye Paez, Jason Howard, Sonja C. Vernes, Tanya M. Lama, Frank Grutzner, Wesley C. Warren, Christopher N. Balakrishnan, Dave Burt, Julia M. George, Matthew T. Biegler, David Iorns, Andrew Digby, Daryl Eason, Bruce Robertson, Taylor Edwards, Mark Wilkinson, George Turner, Axel Meyer, Andreas F. Kautt, Paolo Franchini, H. William Detrich, Hannes Svardal, Maximilian Wagner, Gavin J.P. Naylor, Martin Pippel, Milan Malinsky, Mark Mooney, Maria Simbirsky, Brett T. Hannigan, Trevor Pesout, Marlys Houck, Ann Misuraca, Sarah B. Kingan, Richard Hall, Zev Kronenberg, Ivan Sović, Christopher Dunn, Zemin Ning, Alex Hastie, Joyce Lee, Siddarth Selvaraj, Richard E. Green, Nicholas H. Putnam, Ivo Gut, Jay Ghurye, Erik Garrison, Ying Sims, Joanna Collins, Sarah Pelan, James Torrance, Alan Tracey, Jonathan Wood, Robel E. Dagnew, Dengfeng Guan, Sarah E. London, David F. Clayton, Claudio V. Mello, Samantha R. Friedrich, Peter V. Lovell, Ekaterina Osipova, Farooq O. Al-Ajli, Simona Secomandi, Heebal Kim, Constantina Theofanopoulou, Michael Hiller, Yang Zhou, Robert S. Harris, Kateryna D. Makova, Paul Medvedev, Jinna Hoffman, Patrick Masterson, Karen Clark, Fergal Martin, Kevin Howe, Paul Flicek, Brian P. Walenz, Woori Kwak, Hiram Clawson, Mark Diekhans, Luis Nassar, Benedict Paten, Robert H.S. Kraus, Andrew J. Crawford, M. Thomas P. Gilbert, Guojie Zhang, Byrappa Venkatesh, Robert W. Murphy, Klaus Peter Koepfli, Beth Shapiro, Warren E. Johnson, Federica Di Palma, Tomas Marques-Bonet, Emma C. Teeling, Tandy Warnow, Jennifer Marshall Graves, Oliver A. Ryder, David Haussler, Stephen J. O’Brien, Jonas Korlach, Harris A. Lewin, Kerstin Howe, Eugene W. Myers, Richard Durbin, Adam M. Phillippy, Erich D. Jarvis, 2021, Nature on p. 737-746
A genome-wide analysis of common fragile sites
Arkarachai Fungtammasan, Erin Walsh, Francesca Chiaromonte, Kristin A. Eckert, Kateryna D. Makova, 2012, Genome Research on p. 993-1005
Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq
Jennifer A. McElhoe, Mitchell M. Holland, Kateryna D. Makova, Marcia Shu Wei Su, Ian M. Paul, Christine H. Baker, Seth A. Faith, Brian Young, 2014, Forensic Science International: Genetics on p. 20-29
The Intervention Nurses Start Infants Growing on Healthy Trajectories (INSIGHT) study
Ian M. Paul, Jennifer S. Williams, Stephanie Anzman-Frasca, Jessica S. Beiler, Kateryna D. Makova, Michele E. Marini, Lindsey B. Hess, Susan E. Rzucidlo, Nicole Verdiglione, Jodi A. Mindell, Leann L. Birch, 2014, BMC Pediatrics
A time- and cost-effective strategy to sequence mammalian Y chromosomes: An application to the de novo assembly of gorilla Y
Marta Tomaszkiewicz, Samarth Rangavittal, Monika Cechova, Rebeca Campos Sanchez, Howard W. Fescemyer, Robert Harris, Danling Ye, Patricia C.M. O'Brien, Rayan Chikhi, Oliver A. Ryder, Malcolm A. Ferguson-Smith, Paul Medvedev, Kateryna D. Makova, 2016, Genome Research on p. 530-540
Accurate typing of short tandem repeats from genome-wide sequencing data and its applications
Arkarachai Fungtammasan, Guruprasad Ananda, Suzanne E. Hile, Marcia Shu Wei Su, Chen Sun, Robert Harris, Paul Medvedev, Kristin Eckert, Kateryna D. Makova, 2015, Genome Research on p. 736-749
Y and W Chromosome Assemblies: Approaches and Discoveries
Marta Tomaszkiewicz, Paul Medvedev, Kateryna D. Makova, 2017, Trends in Genetics on p. 266-282
News Articles Featuring Kateryna Makova
Apr 19, 2022
Help for Ukraine scholars: Higher education rallies to provide jobs, support
Institutions post opportunities for scientific researchers and students who have been displaced by the war with Russia.
Full Article
Apr 04, 2022
Are egg cells in aging primates protected from mutations?
A new study shows that mutation frequencies in mitochondrial DNA are lower, and increase less with age, in the precursors of egg cells than in the cells of other tissues in a primate.
Full Article
Apr 04, 2022
Are egg cells in aging primates protected from mutations?
New mutations occur at increasing rates in the mitochondrial genomes of developing egg cells in aging rhesus monkeys, but the increases appear to plateau at a certain age and are not as large as those seen in non-reproductive cells, like muscle and liver.
Full Article
Feb 04, 2021
Unusual DNA folding increases the rates of mutations
DNA sequences that can fold into shapes other than the classic double helix tend to have higher mutation rates than other regions in the human genome. New research by a team of Penn State scientists shows that the elevated mutation rate in these sequences plays a major role in determining regional variation in mutation rates across the genome.
Full Article
Oct 09, 2020
Makova selected as holder of the Verne M. Willaman Chair in the Life Sciences
Kateryna Makova, Pentz Professor of Biology at Penn State, has been appointed as holder of the Verne M. Willaman Chair in the Life Sciences. The appointment, effective on Sept. 1, was made by the Office of the President of the University, based on the recommendation of the dean, in recognition of Makova’s national and international reputation for excellence in research and teaching.
Full Article
Oct 06, 2020
Evolution of the Y chromosome in great apes deciphered
New analysis of the DNA sequence of the male-specific Y chromosomes from all living species of the great ape family helps to clarify our understanding of how this enigmatic chromosome evolved.
Full Article
Sep 29, 2020
Scientists take a step toward understanding 'jumping genes' effect on the genome
Using state-of-the-art statistical methods, a team of researchers said they may have taken a leap closer to understanding a class of jumping genes, sequences that move to different locations in the human genome, which is the body’s complete set of DNA.
Full Article
Nov 18, 2019
Tracking inheritance of human mitochondrial DNA
New insight into how genetic information stored in human mitochondria is passed from one generation to the next could have important implications for genetic counseling of people planning pregnancies, according to a study by researchers at Penn State and the University of California, Berkeley.
Full Article
Jan 14, 2019
Mixed Ancestry Might Affect Our Mitochondria
Full Article
Oct 09, 2018
Could the bacteria in a child’s mouth predict obesity?
There may soon be a simple way to identify children at risk for developing obesity later in life. Researchers from Penn State University analyzed the bacteria in the mouths of 226 2-year-olds and found that a child's oral microbiota can be used as a tool to predict weight gain during the first two years of their life.
Full Article