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
Most Recent Publications
The complete sequence and comparative analysis of ape sex chromosomes
Kateryna D. Makova, Brandon D. Pickett, Robert Scott Harris, Gabrielle A. Hartley, Monika Cechova, Karol Pal, Sergey Nurk, Dong Ahn Yoo, Qiuhui Li, Prajna Hebbar, Barbara Claire McGrath, Francesca Antonacci, Margaux Aubel, Arjun Biddanda, Matthew Borchers, Erich Bornberg-Bauer, Gerard G. Bouffard, Shelise Y. Brooks, Lucia Carbone, Laura Carrel, Andrew Carroll, Pi Chuan Chang, Chen Shan Chin, Daniel E. Cook, Sarah J.C. Craig, Luciana de Gennaro, Mark Diekhans, Amalia Dutra, Gage H. Garcia, Patrick G.S. Grady, Richard E. Green, Diana Haddad, Pille Hallast, William T. Harvey, Glenn Hickey, David A. Hillis, Savannah J. Hoyt, Hyeonsoo Jeong, Kaivan Kamali, Sergei L.Kosakovsky Pond, Troy M. LaPolice, Charles Lee, Alexandra P. Lewis, Yong Hwee E. Loh, Patrick Masterson, Kelly M. McGarvey, Rajiv C. McCoy, Paul Medvedev, Karen H. Miga, Katherine M. Munson, Evgenia Pak, Benedict Paten, Brendan J. Pinto, Tamara Potapova, Arang Rhie, Joana L. Rocha, Fedor Ryabov, Oliver A. Ryder, Samuel Sacco, Kishwar Shafin, Valery A. Shepelev, Viviane Slon, Steven J. Solar, Jessica M. Storer, Peter H. Sudmant, Sweetalana, Alex Sweeten, Michael G. Tassia, Françoise Thibaud-Nissen, Mario Ventura, Melissa A. Wilson, Alice C. Young, Huiqing Zeng, Xinru Zhang, Zachary A. Szpiech, Christian D. Huber, Jennifer L. Gerton, Soojin V. Yi, Michael C. Schatz, Ivan A. Alexandrov, Sergey Koren, Rachel J. O’Neill, Evan E. Eichler, Adam M. Phillippy, 2024, Nature on p. 401-411
Methylation profiles at birth linked to early childhood obesity
Delphine Lariviere, Sarah J.C. Craig, Ian M. Paul, Emily E. Hohman, Jennifer S. Savage, Robert O. Wright, Francesca Chiaromonte, Kateryna D. Makova, Matthew L. Reimherr, 2024, Journal of Developmental Origins of Health and Disease on p. e7
In vivo detection of DNA secondary structures using permanganate/S1 footprinting with direct adapter ligation and sequencing (PDAL-Seq)
Angelika Lahnsteiner, Sarah J.C. Craig, Kaivan Kamali, Bernadette Weissensteiner, Barbara Claire McGrath, Angela Risch, Kateryna D. Makova, 2024,
Transcript Isoform Diversity of Ampliconic Genes on the Y Chromosome of Great Apes
Marta Tomaszkiewicz, Kristoffer Sahlin, Paul Medvedev, Kateryna D. Makova, 2023, Genome Biology and Evolution
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
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
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
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
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
Non-B DNA: A major contributor to small-and large-scale variation in nucleotide substitution frequencies across the genome
Wilfried Guiblet, Marzia Cremona, Robert Harris, Di Chen, Kristin A. Eckert, Francesca Chiaromonte, Yi Fei Huang, Kateryna D. Makova, 2021, Nucleic Acids Research on p. 1497--1516
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
News Articles Featuring Kateryna Makova
Oct 04, 2024
12 Penn State faculty receive U.S. Fulbright Scholar Awards for 2024-25 year
Twelve Penn State faculty members received Fulbright Scholar Awards for the 2024-25 academic year, according to the Fulbright U.S. Scholar Program. An additional four faculty members have been named Fulbright Specialist Award recipients.
Full Article
May 29, 2024
Complete X and Y chromosome sequences of living great ape species determined
Newly generated, complete “end-to-end” reference genomes for the sex chromosomes of five great ape species and one lesser ape species — produced by an international collaborative team led by researchers at Penn State, the National Human Genome Research Institute and the University of Washington — highlight extremely rapid changes on the male-specific Y chromosome among ape species.
Full Article
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
Full Article
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.
Full Article
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.
Full Article
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
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.
Full Article
Sep 19, 2018
Child Weight Gain Trajectories Linked To Oral Microbiota Composition
Gut and oral microbiota perturbations have been observed in obese adults and adolescents; less is known about their influence on weight gain in young children.
Full Article
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.
Full Article