NSF Research News features Aqil and Gokcumen's study of genetic variation in balancing selection

Genetic study of modern humans, Neanderthals and Denisovans points to the importance of balancing selection in evolution

Published March 21, 2023

The NSF News features a story about the research of Alber Aqil, PhD candidate,  and Professor Omer Gokcumen. Their study investigates a key question in biology: why genomic variation persists in a population for extended periods. According to Rebecca Ferrell, NSF Biological Anthropology program director, "the project demonstrates the value of an expanding genomic toolkit for studying human evolution, revealing new details about the complex variation and relationships among hominins." Visit NSF News.

Related Links

Faculty Profile

  • Omer Gokcumen

    PhD

    Omer Gokcumen.

    Omer Gokcumen

    PhD

    Omer Gokcumen

    PhD

    Professor
    Meyerson Award for Undergraduate Mentoring, 2025
    Distinguished Postdoc Mentor Award, 2019

    Research Interests

    Human and primate evolution, ancient humans (including Neanderthals and Denisovans), anthropological genomics

    Education

    • PhD, University of Pennsylvania
    • Postdoctoral Research, Harvard Medical School

    Research Statement

    Omer Gokcumen is an expert in evolutionary anthropology — the study of how humans evolved and how they differ from non-human primates such as gorillas and chimpanzees. His work is tied to human evolution, including evolutionary adaptation and the evolutionary processes that lead to genetic disease.

    Gokcumen’s research examines the role that genomic variants, especially deletions and duplications, play in human disease and biology. His laboratory investigates the evolutionary history of genetic variations tied to interesting traits and diseases in modern and ancient human populations.

    Selected Publications

    • Yilmaz, F., Karageorgiou, C.*, Kwondo, K., Pajic P.*, Scheer, K.*, HGSV Consortium, Beck, C., Torregrossa, A-M., Lee, C., Gokcumen, O.* (2024). Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation. Science. 386: eadn0609
    • Russel, M., Aqil, A*., Saitou, M., Gokcumen, O*, Naoki, M. (2023) Gene communities in co-expression networks across different tissues. PloS Computational Biology. 19(11): e1011616. [co-Corresponding Author].
    • Veilleux, C.C., Garrett, E.C., Pajic, P.*, Saitou, M.*, Ochieng, J., Dagsaan, L.D., Dominy, N.J., Perry, G.H., Gokcumen, O.*,  Melin, A.D. (2023). Veillex Human subsistence and signatures of selection on chemosensory genes. Communications Biology. 6: 683. [co-Corresponding Author].
    • Aqil, A.*, Pavlos, P., Speidel, L. Gokcumen, O.* Balancing selection on genomic deletion polymorphisms in humans. (2023). eLife. e79111
    • Pajic, P.*, Shen, S., Qu, J., May, A.J., Knox, S., Ruhl, S., Gokcumen, O.* (2022) A mechanism of gene evolution generating mucin function. Science Advances. 8: 34.
    • Saitou, M.*, Masuda, N., Gokcumen, O.* (2022). Similarity-based analysis of allele frequency distribution among multiple populations identifies adaptive genomic structural variants. Molecular Biology and Evolution. 39: msab313.
    • Saitou, M.*, Resendez, S.*, Pradhan, A.J., Wu, F., Lie, N.C., Hall, N.J., Zhu, Q.,  Reinholdt, L. Satta, Y., Speidel, L., Nakagome, S., Hanchard, N. A., Churchill, G., Lee, C., Atilla-Gokcumen,  G. E., Mu, X., Gokcumen, O.* (2021). Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor. Science Advances. 7, eabi4476.
    • Saitou, M.*, Gaylord, E., Xu, D., Neznanova, L., Nathan, S., Grawe, A., Chang, J., Ryan, William., Ruhl, S., Knox, S.M., and Gokcumen, O.*  (2020). Functional Specialization of Human Salivary Glands and Origins of Proteins Intrinsic to Human Saliva. Cell Reports. 33, 108402.
    • Taskent, O.*, Yen Lung Lin, Patramanis, I., Pavlidis, P., Gokcumen, O.* (2020). Analysis of haplotypic variation and deletion polymorphisms point to multiple archaic introgression events, including from Altai Neanderthal lineage. Genetics. 215: 497-509.
    • Pajic, P.*, Pavlidis, P., Dean, K., Neznanova, L., Daugherity, E., Romano R-A., Garneau, D., Globig, A., Ruhl, S., Gokcumen, O.* (2019). Independent amylase gene copy number bursts correlate with dietary preferences in mammals. eLife.
    • Lin, Y.-L.*, & Gokcumen, O.* (2019). Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots. Genome Biology and Evolution, 11(4), 1136–1151.
    • Saitou, M.*, Lizardo, D., Taskent, R. O.*, Millner, A., Gokcumen, O.*, Atilla-Gokcumen, G. (2018). An evolutionary transcriptomics approach links CD36 to membrane remodeling in replicative senescence. Mol Omics 14, 237 [Cover article, co-Corresponding Author].
    • Xu, D.*, Pavlidis, P., Taskent*, R.O., Alachiotis, N., Flanagan. C.*, DeGiorgio, M., Ruhl, S., Gokcumen, O.* (2017). Archaic hominin introgression in Africa contributes to functional salivary MUC7 genetic variation. Mol Biol Evol. 34: 2704