Kateryna Makova

Director of the Center for Medical Genomics; Professor of Biology

Kateryna Makova

Research Summary

Molecular evolution, population genetics, evolutionary genomics, bioinformatics, and human genetics.

Huck Graduate Students

Huck Affiliations

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Publication Tags

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Genome Mitochondrial Dna Dna Mutation Genes Vertebrates Y Chromosome Chromosomes Nurses Parenting Child Mutation Rate Gene Expression Human Genome High Throughput Nucleotide Sequencing Siblings Costs And Cost Analysis Population Oocytes Sex Chromosomes Proteins Growth Germ Cells Dna Directed Dna Polymerase Maternal Inheritance

Most Recent Publications

Accurate sequencing of DNA motifs able to form alternative (non-B) structures

Matthias H. Weissensteiner, Marzia A. Cremona, Wilfried M. Guiblet, Nicholas Stoler, Robert S. Harris, Monika Cechova, Kristin A. Eckert, Francesca Chiaromonte, Yi Fei Huang, Kateryna D. Makova, 2023, Genome Research on p. 907-923

Noncanonical DNA structures are drivers of genome evolution

Kateryna D. Makova, Matthias H. Weissensteiner, 2023, Trends in Genetics on p. 109-124

The complete sequence of a human Y chromosome

Arang Rhie, Sergey Nurk, Monika Cechova, Savannah J. Hoyt, Dylan J. Taylor, Nicolas Altemose, Paul W. Hook, Sergey Koren, Mikko Rautiainen, Ivan A. Alexandrov, Jamie Allen, Mobin Asri, Andrey V. Bzikadze, Nae Chyun Chen, Chen Shan Chin, Mark Diekhans, Paul Flicek, Giulio Formenti, Arkarachai Fungtammasan, Carlos Garcia Giron, Erik Garrison, Ariel Gershman, Jennifer L. Gerton, Patrick G.S. Grady, Andrea Guarracino, Leanne Haggerty, Reza Halabian, Nancy F. Hansen, Robert Scott Harris, Gabrielle A. Hartley, William T. Harvey, Marina Haukness, Jakob Heinz, Thibaut Hourlier, Robert M. Hubley, Sarah E. Hunt, Stephen Hwang, Miten Jain, Rupesh K. Kesharwani, Alexandra P. Lewis, Heng Li, Glennis A. Logsdon, Julian K. Lucas, Wojciech Makalowski, Christopher Markovic, Fergal J. Martin, Ann M. Mc Cartney, Rajiv C. McCoy, Jennifer McDaniel, Brandy M. McNulty, Paul Medvedev, Alla Mikheenko, Katherine M. Munson, Terence D. Murphy, Hugh E. Olsen, Nathan D. Olson, Luis F. Paulin, David Porubsky, Tamara Potapova, Fedor Ryabov, Steven L. Salzberg, Michael E.G. Sauria, Fritz J. Sedlazeck, Kishwar Shafin, Valery A. Shepelev, Alaina Shumate, Jessica M. Storer, Likhitha Surapaneni, Angela M. Taravella Oill, Françoise Thibaud-Nissen, Winston Timp, Marta Tomaszkiewicz, Mitchell R. Vollger, Brian P. Walenz, Allison C. Watwood, Matthias H. Weissensteiner, Aaron M. Wenger, Melissa A. Wilson, Samantha Zarate, Yiming Zhu, Justin M. Zook, Evan E. Eichler, Rachel J. O’Neill, Michael C. Schatz, Karen H. Miga, Kateryna D. Makova, Adam M. Phillippy, 2023, Nature

Variation in G-quadruplex sequence and topology differentially impacts human DNA polymerase fidelity

Mary Elizabeth Stein, Suzanne E. Hile, Matthias H. Weissensteiner, Marietta Lee, Sufang Zhang, Eduard Kejnovský, Iva Kejnovská, Kateryna D. Makova, Kristin A. Eckert, 2022, DNA Repair

Exploring the Effects of Mitonuclear Interactions on Mitochondrial DNA Gene Expression in Humans

Edmundo Torres-Gonzalez, Kateryna D. Makova, 2022, Frontiers in Genetics

Whole-genome sequence and assembly of the Javan gibbon (Hylobates moloch)

Merly Escalona, Jake VanCampen, Nicholas Maurer, Nicholas Mauer, Marina Haukness, R Harris, Mariam Okhovat, Robert Harris, Allison Watwood, Paul Medvedev, Allison Watwood, Gabrielle Hartley, K Makova, Rachel O’Neill, Christopher Vollmers, R O'Neill, Lucia Corbone, P Medvedev, others, Richard Green, Kateryna Makova, C Vollmers, L Carbone, R Green, 2022, Journal of Heredity on p. 35-43

Advanced age increases frequencies of de novo mitochondrial mutations in macaque oocytes and somatic tissues

Barbara Arbeithuber, Mazia Cremona, James Hester, Alison Barrett, Bonnie Higgins, Kate Anthony, Francesca Chiaromonte, Francisco J. Diaz, Kateryna Makova, 2022, Proceedings of the National Academy of Sciences of the United States of America on p. e2118740119

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

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

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

Most-Cited 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

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 Su, Nicholas Stoler, Jennifer A. McElhoe, N Stoler, Ben Dickins, D Blankenberg, Thorfinn S. Korneliussen, Francesca Chiaromonte, Rasmus Nielsen, 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

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

Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq

Jennifer McElhoe, M Holland, Kateryna D. Makova, Marcia Shu Wei Su, A Nekrutenko, Boris Rebolledo-Jaramillo, Ian M. Paul, Christine Baker, Seth Faith, Brian Young, 2014, Forensic Science International: Genetics on p. 20-29

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

Y and W Chromosome Assemblies: Approaches and Discoveries

Marta Tomaszkiewicz, Paul Medvedev, Kateryna D. Makova, 2017, Trends in Genetics on p. 266-282

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

Gene survival and death on the human y chromosome

Melissa A. Wilson Sayres, Kateryna D. Makova, 2013, Molecular Biology and Evolution on p. 781-787

News Articles Featuring Kateryna Makova

Sep 02, 2023

Unraveling the Mysteries Of The Y Chromosome

Kateryna Makova talks about Y chromosome and her findings recently reported in the journal Nature

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Aug 23, 2023

DNA sequence of the human Y chromosome fully determined for first time

The first full sequence of the last human chromosome — the Y chromosome — to be assembled is complete, thanks to an international collaboration that includes Penn State researchers. The new sequence, which fills in gaps across more than 50% of the Y chromosome’s length, uncovers genomic features with implications for fertility, as well as cancer risk and severity.

Full Article

Aug 23, 2023

DNA sequence of the human Y chromosome fully determined for first time

Published in Nature, the international efforts revealed the first full sequencing of the human sex chromosome.

Full Article

Apr 17, 2023

Structured Nucleic Acids Day, Robert Simpson and Sons Lecture set for April 18

A half-day symposium on structured (noncanonical) nucleic acids will be held on Tuesday, April 18, in Foster Auditorium, Paterno Library, Penn State University Park.

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Sep 28, 2022

Makova awarded Masatoshi Nei Innovation Prize in Biology

Kateryna Makova, Verne M. Willaman Chair in the Life Sciences and professor of biology at Penn State, has been awarded the Masatoshi Nei Innovation Prize in Biology. The award was established through a generous gift from Masatoshi Nei, emeritus professor of biology at Penn State and Laura Carnell Professor of Biology at Temple University, and his wife Nobuko Nei.

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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.

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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.

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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.

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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.

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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.

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