Director of the Center for Medical Genomics; Professor of Biology
Molecular evolution, population genetics, evolutionary genomics, bioinformatics, and human genetics.
Huck Graduate Students
- Bioinformatics and Genomics
- Molecular, Cellular, and Integrative Biosciences
- Center for Medical Genomics
Publication TagsMitochondrial Dna Genome Mutation Genes Y Chromosome Dna Mutation Rate Data Analysis Error Correction Family Nucleotides Gene Frequency Oocytes Human Genome Molecules Costs Mutagenesis Chromatin Tissue Mothers Tissues Gene Expression Pedigree Pan Troglodytes Germ Cells
Most Recent Papers
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
Non-B DNA: a major contributor to small- and large-scale variation in nucleotide substitution frequencies across the genome.
W Guiblet, M Cremona, R Harris, D Chen, K Eckert, Francesca Chiaromonte, Y Huang, K Makova, 2021, Nucleic Acids Research on p. 1497-1516
Associations between stool micro-transcriptome, gut microbiota, and infant growth.
M Carney, X Zhan, A Rangnekar, M Chroneos, Craig SJC, Kateryna Makova, I Paul, S Hicks, 2021, Journal of Developmental Origins of Health and Disease on p. 1-7
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 Hoover, Robert S. Harris, Di Chen, Samarth Rangavittal, Paul Medvedev, Kateryna Dmytrivna Makova, 2020, Proceedings of the National Academy of Sciences of the United States of America on p. 26273-26280
Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues
Barbara Arbeithuber, James Hester, Marzia A. Cremona, Nicholas Stoler, Arslan Zaidi, Bonnie Higgins, Kate Anthony, Francesca Chiaromonte, Francisco J. Diaz, Kateryna D. Makova, 2020, PLoS Biology
Ampliconic genes on the great spe Y chromosomes: rapid evolution of copy number but conservation of expression levels
Rahulsimham Vegesna, Marta Tomaszkiewicz, Oliver A. Ryder, Rebeca Campos-Sánchez, Paul Medvedev, Michael DeGiorgio, Kateryna D. Makova, 2020, Genome Biology and Evolution on p. 842-859
Family reunion via error correction: An efficient analysis of duplex sequencing data
Nicholas Stoler, Barbara Arbeithuber, Gundula Povysil, Monika Heinzl, Renato Salazar, Kateryna D. Makova, Irene Tiemann-Boege, Anton Nekrutenko, 2020, BMC Bioinformatics
Pronounced somatic bottleneck in mitochondrial DNA of human hair
Alison Barrett, Barbara Arbeithuber, Arslan Zaidi, Peter Wilton, Ian M. Paul, Rasmus Nielsen, Kateryna D. Makova, 2020, Philosophical Transactions of the Royal Society B: Biological Sciences on p. 20190175
Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees.
A Zaidi, P Wilton, Meng Su, Ian Paul, B Arbeithuber, K Anthony, Anton Nekrutenko, R Nielsen, Kateryna Makova, 2019, Proceedings of the National Academy of Sciences of the United States of America on p. 25172-25178
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
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
Harnessing cloud computing with Galaxy Cloud
Enis Afgan, Dannon Baker, Nate Coraor, Hiroki Goto, Ian Paul, Kateryna Dmytrivna Makova, Anton Nekrutenko, James Taylor, 2011, Nature Biotechnology on p. 972-974
Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study
Hiroki Goto, Benjamin Dickins, Enis Afgan, Ian Paul, James Taylor, Kateryna Dmytrivna Makova, Anton Nekrutenko, 2011, Genome Biology
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
Do variations in substitution rates and male mutation bias correlate with life-history traits? a study of 32 mammalian genomes
Melissa A.Wilson Sayres, Chris Venditti, Mark Pagel, Kateryna D. Makova, 2011, Evolution; international journal of organic evolution on p. 2800-2815
News Articles Featuring Kateryna Makova
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.
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.
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.
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.
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.
Jan 14, 2019
Mixed Ancestry Might Affect Our Mitochondria
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.
Sep 21, 2018
Mouth bacteria in toddlers may predict obesity, study says
Bacteria in a toddler's mouth might help predict later obesity, new research suggests. Scientists at Penn State University found the composition of microorganisms in the mouths of 2-year-olds offers clues to the child's future weight.
Sep 20, 2018
Swabbing a child’s mouth for bacteria could predict how likely they are to become obese
A swab of a toddler’s mouth may predict their odds of growing into obese children, a new study suggests. Scientists at Pennsylvania State University discovered that the harmless microorganisms living in a two-year-old’s mouth were less diverse if they had gained more weight more quickly than most since birth.
Sep 19, 2018
Your Child's Mouth Could Reveal Their Obesity Risk
Scientists believe the bacteria that live in a toddler’s mouth could provide clues as to whether they will become obese. Existing research suggests the microbes inhabiting the guts and mouths of obese adults differ to those without the condition, but less is known about this pattern in children. So biologists at Pennsylvania State University set out to investigate what a child’s microbiota could say about their weight.