Nathan A. Ellis, PhD

Director of Graduate Studies, Genetics GIDP
Associate Professor, Cellular and Molecular Medicine
Associate Professor, Cancer Biology GIDP
Co-Program Leader, Cancer Biology Research Program
Research Interests: 

Genomic Instability and Cancer Susceptibility

My career has been devoted to understanding the functional consequences of genetic variation in humans. I have worked in the human molecular genetics of X chromosome inactivation and Y chromosome-mediated sex determination, evolution and population genetics of human sex chromosomes, the molecular genetics of genomic instability and DNA repair. The current research focus of the laboratory is the relationship between genomic instability and cancer susceptibility. We are interested in both high-penetrance and low-penetrance cancer susceptibility alleles, the population genetics of the susceptibility alleles, and molecular mechanisms linking the alleles with disease susceptibility and carcinogenesis. The laboratory investigates two major areas:  Regulation of homologous recombination in human cells and Genetic analysis of colorectal cancer susceptibility

Molecular Medicine Grad Program: 



Pond, K. W., and N. A. Ellis, "Quantification of Double-Strand Breaks in Mammalian Cells Using Pulsed-Field Gel Electrophoresis.", Methods Mol Biol, vol. 1999, pp. 75-85, 2019 05 25. PMID: 31127570
Pond, K. W., C. de Renty, M. K. Yagle, and N. A. Ellis, "Rescue of collapsed replication forks is dependent on NSMCE2 to prevent mitotic DNA damage.", PLoS Genet, vol. 15, issue 2, pp. e1007942, 2019 02 01. PMCID: PMC6383951  PMID: 30735491
Jacobs, E. Theresa, P. Lance, L. J. Mandarino, N. A. Ellis, H-H. Sherry Chow, J. Foote, J. A. Martinez, C-H. Paul Hsu, K. Batai, K. Saboda, et al., "Selenium supplementation and insulin resistance in a randomized, clinical trial.", BMJ Open Diabetes Res Care, vol. 7, issue 1, pp. e000613, 2019 02 07. PMCID: PMC6398811  PMID: 30899530
Zhou, J., T. G. Jenkins, A. M. Jung, K. Sook Jeong, J. Zhai, E. T. Jacobs, S. C. Griffin, D. Dearmon-Moore, S. R. Littau, W. F. Peate, et al., "DNA methylation among firefighters.", PLoS One, vol. 14, issue 3, pp. e0214282, 2019 03 26. PMCID: PMC6435149  PMID: 30913233
Xicola, R. M., J. R. Clark, T. Carroll, J. Alvikas, P. Marwaha, M. R. Regan, F. Lopez-Giraldez, J. Choi, R. Emmadi, V. Alagiozian-Angelova, et al., "Implication of DNA repair genes in Lynch-like syndrome.", Fam Cancer, vol. 18, issue 3, pp. 331-342, 2019 07 01. PMCID: PMC6561810  PMID: 30989425
A Taylor, M. R., C. Rothblum-Oviatt, N. A. Ellis, I. D. Hickson, S. Meyer, T. O. Crawford, A. Smogorzewska, B. Pietrucha, C. Weemaes, and G. S. Stewart, "Chromosome instability syndromes.", Nat Rev Dis Primers, vol. 5, issue 1, pp. 64, 2019 09 19. PMID: 31537806


Xicola, R. M., Z. Manojlovic, G. J. Augustus, S. S. Kupfer, R. Emmadi, V. Alagiozian-Angelova, T. Triche, B. Salhia, J. Carpten, X. Llor, et al., "Lack of APC somatic mutation is associated with early-onset colorectal cancer in African Americans.", Carcinogenesis, vol. 39, issue 11, pp. 1331-1341, 2018 Dec 13. PMCID: PMC6292413  PMID: 30239619
Kohler, L. N., J. Foote, C. P. Kelley, A. Florea, C. Shelly, H-H. Sherry Chow, P. Hsu, K. Batai, N. Ellis, K. Saboda, et al., "Selenium and Type 2 Diabetes: Systematic Review.", Nutrients, vol. 10, issue 12, 2018 Dec 05. PMID: 30563119
Augustus, G. Julian, D. J. Roe, E. T. Jacobs, P. Lance, and N. A. Ellis, "Is increased colorectal screening effective in preventing distant disease?", PLoS One, vol. 13, issue 7, pp. e0200462, 2018. PMCID: PMC6042755  PMID: 30001362
Batai, K., A. Bergersen, E. Price, K. Hynes, N. A. Ellis, and B. R. Lee, "Clinical and Molecular Characteristics and Burden of Kidney Cancer Among Hispanics and Native Americans: Steps Toward Precision Medicine.", Clin Genitourin Cancer, vol. 16, issue 3, pp. e535-e541, 2018 06. PMID: 29449090
Lynn, H., X. Sun, D. Ayshiev, J. H. Siegler, A. N. Rizzo, J. H. Karnes, M. Gonzales Garay, T. Wang, N. Casanova, S. M. Camp, et al., "Single nucleotide polymorphisms in the MYLKP1 pseudogene are associated with increased colon cancer risk in African Americans.", PLoS One, vol. 13, issue 8, pp. e0200916, 2018. PMCID: PMC6116948  PMID: 30161129
Cunniff, C., A. Reza Djavid, S. Carrubba, B. Cohen, N. A. Ellis, C. Fein Levy, S. Jeong, H. M. Lederman, M. Vogiatzi, M. F. Walsh, et al., "Health supervision for people with Bloom syndrome.", Am J Med Genet A, vol. 176, issue 9, pp. 1872-1881, 2018 Sep. PMID: 30055079
Augustus, G. J., and N. A. Ellis, "Colorectal Cancer Disparity in African Americans: Risk Factors and Carcinogenic Mechanisms.", Am J Pathol, vol. 188, issue 2, pp. 291-303, 2018 02. PMCID: PMC5785537  PMID: 29128568


Yazici, C., P. G. Wolf, H. Kim, T-W. L. Cross, K. Vermillion, T. Carroll, G. J. Augustus, E. Mutlu, L. Tussing-Humphreys, C. Braunschweig, et al., "Race-dependent association of sulfidogenic bacteria with colorectal cancer.", Gut, vol. 66, issue 11, pp. 1983-1994, 2017 11. PMCID: PMC5575988  PMID: 28153960
de Renty, C., and N. A. Ellis, "Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases.", Ageing Res Rev, vol. 33, pp. 36-51, 2017 Jan. PMCID: PMC5124422  PMID: 27238185
Cunniff, C., J. A. Bassetti, and N. A. Ellis, "Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.", Mol Syndromol, vol. 8, issue 1, pp. 4-23, 2017 Jan. PMCID: PMC5260600  PMID: 28232778


Xicola, R. M., S. Bontu, B. J. Doyle, J. Rawson, P. Garre, E. Lee, M. de la Hoya, X. Bessa, J. Clofent, L. Bujanda, et al., "Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).", Carcinogenesis, vol. 37, issue 8, pp. 751-8, 2016 08. PMCID: PMC4967215  PMID: 27234654
Grimm, W. A., J. S. Messer, S. F. Murphy, T. Nero, J. P. Lodolce, C. R. Weber, M. F. Logsdon, S. Bartulis, B. E. Sylvester, A. Springer, et al., "The Thr300Ala variant in ATG16L1 is associated with improved survival in human colorectal cancer and enhanced production of type I interferon.", Gut, vol. 65, issue 3, pp. 456-64, 2016 Mar. PMCID: PMC4789828  PMID: 25645662
Markowitz, S. D., N. L. Nock, S. L. Schmit, Z. K. Stadler, V. Joseph, L. Zhang, J. E. Willis, P. Scacheri, M. Veigl, M. D. Adams, et al., "A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis.", PLoS One, vol. 11, issue 1, pp. e0146435, 2016. PMCID: PMC4709047  PMID: 26751797


Hulur, I., E. R. Gamazon, A. D. Skol, R. M. Xicola, X. Llor, K. Onel, N. A. Ellis, and S. S. Kupfer, "Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci.", BMC Genomics, vol. 16, pp. 138, 2015. PMCID: PMC4351699  PMID: 25766683


Xicola, R. M., M. Gagnon, J. R. Clark, T. Carroll, W. Gao, C. Fernandez, D. Mijic, J. B. Rawson, A. Janoski, C. K. Pusatcioglu, et al., "Excess of proximal microsatellite-stable colorectal cancer in African Americans from a multiethnic study.", Clin Cancer Res, vol. 20, issue 18, pp. 4962-70, 2014 Sep 15. PMCID: PMC4167473  PMID: 25013126
Kupfer, S. S., A. D. Skol, E. Hong, A. Ludvik, R. A. Kittles, T. O. Keku, R. S. Sandler, and N. A. Ellis, "Shared and independent colorectal cancer risk alleles in TGFβ-related genes in African and European Americans.", Carcinogenesis, vol. 35, issue 9, pp. 2025-30, 2014 Sep. PMCID: PMC4146413  PMID: 24753543
Pibiri, F., R. A. Kittles, R. S. Sandler, T. O. Keku, S. S. Kupfer, R. M. Xicola, X. Llor, and N. A. Ellis, "Genetic variation in vitamin D-related genes and risk of colorectal cancer in African Americans.", Cancer Causes Control, vol. 25, issue 5, pp. 561-70, 2014 May. PMCID: PMC3978221  PMID: 24562971


Ouyang, K. J., M. K. Yagle, M. J. Matunis, and N. A. Ellis, "BLM SUMOylation regulates ssDNA accumulation at stalled replication forks.", Front Genet, vol. 4, pp. 167, 2013. PMCID: PMC3761158  PMID: 24027577