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Evolution of genetic and genomic features unique to the human lineage
Open accessAbstract
Given the unprecedented tools that are now available for rapidly comparing genomes, the identification and study of genetic and genomic changes that are unique to our species have accelerated, and we are entering a golden age of human evolutionary genomics. Here we provide an overview of these efforts, highlighting important recent discoveries, examples of the different types of human-specific genomic and genetic changes identified, and salient trends, such as the localization of evolutionary adaptive changes to complex loci that are highly enriched for disease associations. Finally, we discuss the remaining challenges, such as the incomplete nature of current genome sequence assemblies and difficulties in linking human-specific genomic changes to human-specific phenotypic traits.
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“However, changes in structural variants or regions of the genome that are not accessible by current sequencing technologies will most likely complement our results45.”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [45]
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Cites
A draft sequence of the Neandertal genome
Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M. H.-Y., et al. (2010) · Science · doi:10.1126/science.1188021 · Cited by 4,318
Initial sequence of the chimpanzee genome and comparison with the human genome
The Chimpanzee Sequencing and Analysis Consortium (2005) · Nature · doi:10.1038/nature04072 · Cited by 2,459
Genetic history of an archaic hominin group from Denisova Cave in Siberia
Reich, D., Green, R. E., Kircher, M., Krause, J., Patterson, N., Durand, E. Y., Viola, B., Briggs, A. W., Stenzel, U., Johnson, P. L. F., et al. (2010) · Nature · doi:10.1038/nature09710 · Cited by 1,991
A high-coverage genome sequence from an archaic denisovan individual
Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science · doi:10.1126/science.1224344 · Cited by 1,967
Repetitive DNA and next-generation sequencing: computational challenges and solutions
Treangen, T. J., & Salzberg, S. L. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3117 · Cited by 1,795
Endurance running and the evolution of Homo
Bramble, D. M., & Lieberman, D. E. (2004) · Nature · doi:10.1038/nature03052 · Cited by 1,748
Missing heritability and strategies for finding the underlying causes of complex disease
Eichler, E. E., Flint, J., Gibson, G. C., Kong, A., Leal, S. M., Moore, J. H., & Nadeau, J. H. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2809 · Cited by 1,728
The impact of retrotransposons on human genome evolution
Cordaux, R., & Batzer, M. A. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2640 · Cited by 1,692
Genome structural variation discovery and genotyping
Alkan, C., Coe, B. P., & Eichler, E. E. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2958 · Cited by 1,630
Molecular evolution of FOXP2, a gene involved in speech and language
Enard, W., Przeworski, M., Fisher, S. E., Lai, C. S. L., Wiebe, V., Kitano, T., Monaco, A. P., & Pääbo, S. (2002) · Nature · doi:10.1038/nature01025 · Cited by 1,603
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Research works printed but not linked: 1
- Ohno, S. Evolution by Gene Duplication (Springer,1970). This classic text provides some of the first arguments making the case that gene duplication is a major mechanism underlying genome evolution.
Cited by
Sorted by citations
Phillips, K. A., Bales, K. L., Capitanio, J. P., Conley, A. J., Czoty, P. W., Hart, B. A. ‘., Hopkins, W. D., Hu, S., Miller, L. A., Nader, M. A., et al. (2014) · American Journal of Primatology · doi:10.1002/ajp.22281 · Cited by 649
Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis
Fiddes, I. T., Lodewijk, G. A., Mooring, M., Bosworth, C. M., Ewing, A. D., Mantalas, G. L., Novak, A. M., van den Bout, A., Bishara, A., Rosenkrantz, J. L., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.051 · Cited by 595
Enhancers: five essential questions
Pennacchio, L. A., Bickmore, W. A., Dean, A., Nóbrega, M. A., & Bejerano, G. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3458 · Cited by 625
Cortical Evolution: Judge the Brain by Its Cover
Geschwind, D. H., & Rakic, P. (2013) · Neuron · doi:10.1016/j.neuron.2013.10.045 · Cited by 519
Evolution of the Human Nervous System Function, Structure, and Development
Sousa, A. M. M., Meyer, K. A., Santpere, G., Gulden, F. O., & Sestan, N. (2017) · Cell · doi:10.1016/j.cell.2017.06.036 · Cited by 517
Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation
Suzuki, I. K., Gacquer, D., Van Heurck, R., Kumar, D., Wojno, M., Bilheu, A., Herpoel, A., Lambert, N., Cheron, J., Polleux, F., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.067 · Cited by 471
Spatiotemporal transcriptomic divergence across human and macaque brain development
Zhu, Y., Sousa, A. M. M., Gao, T., Skarica, M., Li, M., Santpere, G., Esteller-Cucala, P., Juan, D., Ferrández-Peral, L., Gulden, F. O., et al. (2018) · Science · doi:10.1126/science.aat8077 · Cited by 414
Comparative primate genomics: emerging patterns of genome content and dynamics
Rogers, J., & Gibbs, R. A. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3707 · Cited by 309
The influence of evolutionary history on human health and disease
Benton, M. L., Abraham, A., LaBella, A. L., Abbot, P., Rokas, A., & Capra, J. A. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-020-00305-9 · Cited by 291
Dynamics of DNA Methylation in Recent Human and Great Ape Evolution
Hernando-Herraez, I., Prado-Martinez, J., Garg, P., Fernández-Callejo, M., Heyn, H., Hvilsom, C., Navarro, A., Esteller, M., Sharp, A. J., & Marquès‐Bonet, T. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003763 · Cited by 206
Ju, X.-C., Hou, Q.-Q., Sheng, A.-L., Wu, K.-Y., Zhou, Y., Jin, Y., Wen, T., Yang, Z., Wang, X., & Luo, Z. (2016) · eLife · doi:10.7554/elife.18197 · Cited by 175
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Sherwood, C. C., & Gómez-Robles, A. (2017) · Annual Review of Anthropology · doi:10.1146/annurev-anthro-102215-100009 · Cited by 170
Single-cell-resolution transcriptome map of human, chimpanzee, bonobo, and macaque brains
Khrameeva, E., Kurochkin, I., Han, D., Guijarro, P., Kanton, S., Santel, M., Qian, Z., Rong, S., Mazin, P., Sabirov, M., et al. (2020) · Genome Research · doi:10.1101/gr.256958.119 · Cited by 162
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Dennis, M. Y., Harshman, L., Nelson, B. J., Penn, O., Cantsilieris, S., Huddleston, J., Antonacci, F., Penewit, K., Denman, L., Raja, A., et al. (2017) · Nature Ecology & Evolution · doi:10.1038/s41559-016-0069 · Cited by 159
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Bae, B.-I., Jayaraman, D., & Walsh, C. A. (2015) · Developmental Cell · doi:10.1016/j.devcel.2015.01.035 · Cited by 135
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Bank, N. B., Vermunt, M. W., Tan, S., Castelijns, B., Geeven, G., Reinink, P., de Bruijn, E., Kondova, I. I., Persengiev, S. P., Bontrop, R. E., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4229 · Cited by 125
Zhao, T., & Schranz, M. E. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1801757116 · Cited by 120
A catalog of single nucleotide changes distinguishing modern humans from archaic hominins
Kuhlwilm, M., & Boeckx, C. (2019) · Scientific Reports · doi:10.1038/s41598-019-44877-x · Cited by 108
Comprehensive identification and analysis of human accelerated regulatory DNAPreprint
Gittelman, R. M., Hun, E., Ay, F., Madeoy, J. J., Pennacchio, L. A., Noble, W. S., Hawkins, R. D., & Akey, J. M. (2015) · Genome Research · doi:10.1101/gr.192591.115 · Cited by 109
Suenaga, Y., Islam, S. M. R., Alagu, J., Kaneko, Y., Kato, M., Tanaka, Y., Kawana, H., Hossain, S., Matsumoto, D., Yamamoto, M., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1003996 · Cited by 112
Levchenko, А., Kanapin, A. A., Samsonova, A. A., & Gainetdinov, R. R. (2017) · Genome Biology and Evolution · doi:10.1093/gbe/evx240 · Cited by 107
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Gökçümen, Ö., Tischler, V., Tica, J., Zhu, Q., Iskow, R. C., Lee, E., Fritz, M. H.-Y., Langdon, A. E., Stütz, A. M., Pavlidis, P., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1305904110 · Cited by 81
Okerblom, J., & Varki, A. P. (2017) · ChemBioChem · doi:10.1002/cbic.201700077 · Cited by 84
Self-citationHumanized Mouse Models for the Preclinical Assessment of Cancer Immunotherapy
Wege, A. K. (2018) · BioDrugs · doi:10.1007/s40259-018-0275-4 · Cited by 81
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Reilly, S. K., & Noonan, J. P. (2016) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090314-045935 · Cited by 66
Röhrig, C. H., Choi, S. S. H., & Baldwin, N. J. (2015) · Critical Reviews in Food Science and Nutrition · doi:10.1080/10408398.2015.1040113 · Cited by 72
Gray, P. B. (2013) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22394 · Cited by 70
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Harkins, K. M., & Stone, A. C. (2014) · Journal of Human Evolution · doi:10.1016/j.jhevol.2014.11.002 · Cited by 61
New genes contribute to genetic and phenotypic novelties in human evolution
Zhang, Y. E., & Long, M. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2014.08.013 · Cited by 62
Jiménez, S. A., & Piera-Velázquez, S. (2013) · Autoimmunity Reviews · doi:10.1016/j.autrev.2013.04.004 · Cited by 61
Ma, Y., Liu, S., Gao, J., Chen, C., Zhang, X., Yuan, H., Chen, Z., Yin, X., Sun, C., Mao, Y., et al. (2021) · Developmental Cell · doi:10.1016/j.devcel.2020.12.019 · Cited by 59
Genetic and developmental basis for parallel evolution and its significance for hominoid evolution
Reno, P. L. (2014) · Evolutionary Anthropology Issues News and Reviews · doi:10.1002/evan.21417 · Cited by 53
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Dougherty, M. L., Nuttle, X., Penn, O., Nelson, B. J., Huddleston, J., Baker, C. A., Harshman, L., Duyzend, M., Ventura, M., Antonacci, F., et al. (2017) · Genome biology · doi:10.1186/s13059-017-1163-9 · Cited by 51
Davis, J. M., Searles, V. B., Anderson, N., Keeney, J., Dumas, L., & Sikela, J. M. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004241 · Cited by 51
Self-citationPaired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution
Fiddes, I. T., Pollen, A. A., Davis, J. M., & Sikela, J. M. (2019) · Human Genetics · doi:10.1007/s00439-019-02018-4 · Cited by 48
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TBC1D3 promotes neural progenitor proliferation by suppressing the histone methyltransferase G9a
Hou, Q.-Q., Xiao, Q., Sun, X.-Y., Ju, X.-C., & Luo, Z. (2021) · Science Advances · doi:10.1126/sciadv.aba8053 · Cited by 41
Mascolo, M. F. (2016) · New Ideas in Psychology · doi:10.1016/j.newideapsych.2016.11.005 · Cited by 44
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Vallés, A. S., & Barrantes, F. J. (2023) · Cells · doi:10.3390/cells12162051 · Cited by 37
Uncovering adaptive evolution in the human lineage
Gayà‐Vidal, M., & Albà, M. M. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-599 · Cited by 37
Lascio, S. D., Fornasari, D., & Benfante, R. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23073463 · Cited by 35
Guardiola-Ripoll, M., & Fatjó‐Vilas, M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24043597 · Cited by 32
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Franchini, L. F., & Pollard, K. S. (2015) · Development · doi:10.1242/dev.120048 · Cited by 29
Wilson, G. A., Butcher, L. M., Foster, H. R., Feber, A., Roos, C., Walter, L., Woszczek, G., Beck, S., & Bell, C. G. (2014) · Genome Medicine · doi:10.1186/gm536 · Cited by 27
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Applied & translational genomics
ScienceDirect (2012) · Cited by 20
Superoxide dismutase 1 is positively selected to minimize protein aggregation in great apes
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Khan, N., de Manuel, M., Peyrégne, S., Do, R., Prüfer, K., Marquès‐Bonet, T., Varki, N. M., Gagneux, P., & Varki, A. P. (2020) · Genome Biology and Evolution · doi:10.1093/gbe/evaa125 · Cited by 18
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Fay, J. C. (2013) · Applied & Translational Genomics · doi:10.1016/j.atg.2013.08.001 · Cited by 18
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Soto, D. C., Shew, C. J., Mastoras, M., Schmidt, J. M., Sahasrabudhe, R. M., Kaya, G., Andrés, A. M., & Dennis, M. Y. (2020) · Genes · doi:10.3390/genes11030276 · Cited by 18
Cheung, J. P., Tubbs, J. D., & Sham, P. C. (2022) · Schizophrenia Research · doi:10.1016/j.schres.2022.06.023 · Cited by 18
High resolution measurement of DUF1220 domain copy number from whole genome sequence data
Astling, D. P., Heft, I., Jones, K. L., & Sikela, J. M. (2017) · BMC Genomics · doi:10.1186/s12864-017-3976-z · Cited by 17
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Enard, W. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2014.08.008 · Cited by 16
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Reno, P. L. (2015) · Wiley eBooks · doi:10.1002/9781118524756.ch5 · Cited by 16
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Sassa, T. (2013) · Journal of Neurogenetics · doi:10.3109/01677063.2013.789512 · Cited by 15
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Climer, S., Templeton, A. R., & Zhang, W. (2015) · Nature Communications · doi:10.1038/ncomms7534 · Cited by 14
Recent Advances in Primate Phylogenomics
Pecon‐Slattery, J. (2014) · Annual Review of Animal Biosciences · doi:10.1146/annurev-animal-022513-114217 · Cited by 15
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Self-citationEşiyok, N., Liutikaite, N., Haffner, C., Peters, J., Heide, S., Oegema, C. E., Huttner, W. Β., & Heide, M. (2025) · Science Advances · doi:10.1126/sciadv.ads7543 · Cited by 13
Handelman, S. K., Seweryn, M. T., Smith, R. M., Hartmann, K., Wang, D., Pietrzak, M., Johnson, A. D., Kloczkowski, A., & Sadée, W. (2015) · BMC Genomics · doi:10.1186/1471-2164-16-s8-s8 · Cited by 12
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Beer, P. A., & Eaves, C. J. (2015) · Trends in cancer · doi:10.1016/j.trecan.2015.09.002 · Cited by 15
Romagnoli, F. (2021) · Cambridge Archaeological Journal · doi:10.1017/s0959774320000384 · Cited by 13
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Kim, K., Bang, S., Yoo, D., Kim, H., & Suzuki, S. (2019) · Human Genetics · doi:10.1007/s00439-019-02017-5 · Cited by 10
Albaqami, F. F., Altharawi, A., Althurwi, H. N., Alharthy, K. M., Qamar, M. T. U., Muhseen, Z. T., & Iqbal, M. (2023) · BioMed Research International · doi:10.1155/2023/6325568 · Cited by 10
Plaitakis, A., Kotzamani, D., Petraki, Z., Delidaki, M., Rinotas, V. E., Zaganas, I. V., Douni, E. K., Sidiropoulou, K., & Spanaki, C. (2018) · Neurochemical Research · doi:10.1007/s11064-018-2546-3 · Cited by 10
de Magalhães, J. P., & Kean, M. (2013) · EMBO Reports · doi:10.1038/embor.2013.96 · Cited by 10
Brown, G. R., & Laland, K. N. (2024) · doi:10.1093/oso/9780198908203.001.0001 · Cited by 12
Decoding the Molecular Evolution of Human Cognition Using Comparative Genomics
Usui, N., Co, M., & Konopka, G. (2014) · Brain Behavior and Evolution · doi:10.1159/000365182 · Cited by 10
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Ronke, C., Dannemann, M., Halbwax, M., Fischer, A., Helmschrodt, C., Brügel, M., André, C., Atencia, R., Mugisha, L., Scholz, M. R., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0134548 · Cited by 9
Evolution of the Human Immune System
Danilova, N. (2013) · Wiley eBooks · doi:10.1002/9780470015902.a0020781.pub2 · Cited by 9
The evolutionary origin of psychosis
Levchenko, А., Gusev, F. E., & Rogaev, E. I. (2023) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2023.1115929 · Cited by 8
How Different Are Humans and “Great Apes”? A Matrix of Comparative Anthropogeny
Varki, A. P., & Gagneux, P. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-420190-3.00009-0 · Cited by 8
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Metadata
- Authors
- O'Bleness, M., Searles, V. B., Varki, A., Gagneux, P., & Sikela, J. M.
- Affiliations
- University of Colorado Anschutz (US)
- University of California San Diego (US)
- Center for Academic Research and Training in Anthropogeny (US)
- Corresponding author
- Sikela, James M.
- Venue
- Nature Reviews Genetics
- Published
- 2012-11-16
- Volume
- 13
- Issue
- 12
- Pages
- 853-866
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- PMC
- PMC4097811
- OpenAlex
- W2008252053
- Cited by
- 168
- References
- 132
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 18 · 2023: 16 · 2022: 6 · 2021: 14 · 2020: 7 · 2019: 8 · 2018: 10 · 2017: 12 · 2016: 13 · 2015: 18 · 2014: 19 · 2013: 13 · 2012: 2
- FWCI
- 19.38
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- G. Harold and Leila Y. Mathers Foundation
- National Institutes of Health
- National Institute of General Medical Sciences (R01GM095882)
- Topics
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- human evolution, primate genomics, human lineage, adaptive evolution, disease-associated loci, genome completeness, comparative genomics
- MeSH terms
- Animals, Chromosomes, Human, Humans, Karyotyping, Phenotype, Primates, Species Specificity, Hominidae, Genome, Human, Evolution, Molecular, Genomics, Genetic Speciation, Comparative Genomic Hybridization
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