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.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Changes in structural variants or regions not accessible by current sequencing technologies will most likely complement the results.
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Endurance running and the evolution of Homo
Bramble, D. M., & Lieberman, D. E. (2004) · Nature · doi:10.1038/nature03052 · Cited by 1,748 · see citing works
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 1,710 · see citing works
The impact of retrotransposons on human genome evolution
Cordaux, R., & Batzer, M. (2009) · Nature reviews genetics · doi:10.1038/nrg2640 · Cited by 1,691 · see citing works
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 1,671 · see citing works
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 · see citing works
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 · see citing works
Hot L1s account for the bulk of retrotransposition in the human population
Brouha, B., Schustak, J., Badge, R. M., Lutz-Prigge, S., Farley, A. H., Moran, J. V., & Kazazian, H. H. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0831042100 · Cited by 1,073 · see citing works
An RNA gene expressed during cortical development evolved rapidly in humans
Pollard, K. S., Salama, S. R., Lambert, N., Lambot, M.-A., Coppens, S., Pedersen, J. S., Katzman, S., King, B., Onodera, C., Siepel, A., et al. (2006) · Nature · doi:10.1038/nature05113 · Cited by 1,005 · see citing works
Genome architecture, rearrangements and genomic disorders
Stankiewicz, P., & Lupski, J. R. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02592-1 · Cited by 915 · see citing works
L1 retrotransposition in human neural progenitor cells
Coufal, N. G., Garcia-Perez, J. L., Peng, G. E., Yeo, G. W., Mu, Y., Lovci, M. T., Morell, M., O’Shea, K. S., Moran, J. V., & Gage, F. H. (2009) · Nature · doi:10.1038/nature08248 · Cited by 814 · see citing works
Insights into hominid evolution from the gorilla genome sequence
Scally, A., Dutheil, J. Y., Hillier, L. W., Jordan, G. E., Goodhead, I., Herrero, J., Hobolth, A., Lappalainen, T., Mailund, T., Marquès‐Bonet, T., et al. (2012) · Nature · doi:10.1038/nature10842 · Cited by 760 · see citing works
Personalized copy number and segmental duplication maps using next-generation sequencing
Alkan, C., Kidd, J. M., Marques-Bonet, T., Aksay, G., Antonacci, F., Hormozdiari, F., Kitzman, J. O., Baker, C., Malig, M., Mutlu, O., et al. (2009) · Nature Genetics · doi:10.1038/ng.437 · Cited by 748 · see citing works
Gene conversion: mechanisms, evolution and human disease
Chen, J., Cooper, D. N., Chuzhanova, N. A., Férec, C., & Patrinos, G. P. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2193 · Cited by 689 · see citing works
The Origin of Man: A Chromosomal Pictorial Legacy
Yunis, J. J., & Prakash, O. (1982) · Science · doi:10.1126/science.7063861 · Cited by 672 · see citing works
Inferring Nonneutral Evolution from Human-Chimp-Mouse Orthologous Gene Trios
Clark, A. G., Glanowski, S., Nielsen, R., Thomas, P. D., Kejariwal, A., Todd, M. A., Tanenbaum, D. M., Civello, D., Lu, F., Murphy, B., et al. (2003) · Science · doi:10.1126/science.1088821 · Cited by 669 · see citing works
Diversity of Human Copy Number Variation and Multicopy Genes
Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., 1000 Genomes Project, et al. (2010) · Science · doi:10.1126/science.1197005 · Cited by 667 · see citing works
Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.279 · Cited by 625 · see citing works
A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice
Enard, W., Gehre, S., Hammerschmidt, K., Hölter, S. M., Blass, T., Somel, M., Brückner, M. K., Schreiweis, C., Winter, C., Sohr, R., et al. (2009) · Cell · doi:10.1016/j.cell.2009.03.041 · Cited by 605 · see citing works
The bonobo genome compared with the chimpanzee and human genomes
Prüfer, K., Munch, K., Hellmann, I., Akagi, K., Miller, J. R., Walenz, B., Koren, S., Sutton, G., Kodira, C., Winer, R., et al. (2012) · Nature · doi:10.1038/nature11128 · Cited by 579 · see citing works
Human-specific loss of regulatory DNA and the evolution of human-specific traits
McLean, C. Y., Reno, P. L., Pollen, A. A., Bassan, A. I., Capellini, T. D., Guenther, C., Indjeian, V. B., Lim, X., Menke, D. B., Schaar, B. T., et al. (2011) · Nature · doi:10.1038/nature09774 · Cited by 535 · see citing works
A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection
Grossman, S. R., Shylakhter, I., Karlsson, E. K., Byrne, E. H., Morales, S., Frieden, G., Hostetter, E., Angelino, E., Garber, M., Zuk, O., et al. (2010) · Science · doi:10.1126/science.1183863 · Cited by 512 · see citing works
Comparative studies of gene expression and the evolution of gene regulation
Romero, I. G., Ruvinsky, I., & Gilad, Y. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3229 · Cited by 488 · see citing works
Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation
Charrier, C., Joshi, K., Coutinho-Budd, J., Kim, J.-E., Lambert, N., de Marchena, J., Jin, W.-L., Vanderhaeghen, P., Ghosh, A., Sassa, T., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.034 · Cited by 454 · see citing works
Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication
Linardopoulou, E. V., Williams, E. M., Fan, Y., Friedman, C. L., Young, J. M., & Trask, B. J. (2005) · Nature · doi:10.1038/nature04029 · Cited by 448 · see citing works
When Less Is More: Gene Loss as an Engine of Evolutionary Change
Olson, M. V. (1999) · The American Journal of Human Genetics · doi:10.1086/302219 · Cited by 437 · see citing works
Accelerated Evolution of Nervous System Genes in the Origin of Homo sapiens
Dorus, S., Vallender, E. J., Evans, P. D., Anderson, J. R., Gilbert, S. L., Mahowald, M. A., Wyckoff, G. J., Malcom, C. M., & Lahn, B. T. (2004) · Cell · doi:10.1016/j.cell.2004.11.040 · Cited by 428 · see citing works
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication
Dennis, M. Y., Nuttle, X., Sudmant, P. H., Antonacci, F., Graves, T. A., Nefedov, M., Rosenfeld, J. A., Sajjadian, S., Malig, M., Kotkiewicz, H., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.033 · Cited by 407 · see citing works
Myosin gene mutation correlates with anatomical changes in the human lineage
Stedman, H. H., Kozyak, B. W., Nelson, A., Thesier, D. M., Su, L. T., Low, D. W., Bridges, C. R., Shrager, J. B., Minugh-Purvis, N., & Mitchell, M. A. (2004) · Nature · doi:10.1038/nature02358 · Cited by 398 · see citing works
Lai, C. S. L. (2003) · Brain · doi:10.1093/brain/awg247 · Cited by 386 · see citing works
Human-Specific Gain of Function in a Developmental Enhancer
Prabhakar, S., Visel, A., Akiyama, J. A., Shoukry, M. I., Lewis, K. D., Holt, A., Plajzer-Frick, I., Morrison, H., FitzPatrick, D. R., Afzal, V., et al. (2008) · Science · doi:10.1126/science.1159974 · Cited by 363 · see citing works
Reconstruction of genomic rearrangements in great apes and gibbons by chromosome painting.
Jauch, A., Wienberg, J., Stanyon, R., Arnold, N., Tofanelli, S., Ishida, T., & Cremer, T. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.18.8611 · Cited by 310 · see citing works
Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer’s disease
Carrasquillo, M. M., Zou, F., Pankratz, V. S., Wilcox, S. L., Ma, L., Walker, L. P., Younkin, S. G., Younkin, C. S., Younkin, L. H., Bisceglio, G. D., et al. (2009) · Nature Genetics · doi:10.1038/ng.305 · Cited by 296 · see citing works
Divergence between samples of chimpanzee and human DNA sequences is 5%, counting indels
Britten, R. J. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.172510699 · Cited by 296 · see citing works
Recent de novo origin of human protein-coding genes
Knowles, D. G., & McLysaght, A. (2009) · Genome Research · doi:10.1101/gr.095026.109 · Cited by 291 · see citing works
Uniquely human evolution of sialic acid genetics and biology
Varki, A. P. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0914634107 · Cited by 278 · see citing works
Self-citationLineage-Specific Gene Duplication and Loss in Human and Great Ape Evolution
Fortna, A., Kim, Y., MacLaren, E. J., Marshall, K. E., Hahn, G., Meltesen, L., Brenton, M., Hink, R., Burgers, S., Hernandez‐Boussard, T., et al. (2004) · PLoS Biology · doi:10.1371/journal.pbio.0020207 · Cited by 276 · see citing works
Self-citationLINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?
Singer, T., McConnell, M. J., Marchetto, M. C., Coufal, N. G., & Gage, F. H. (2010) · Trends in Neurosciences · doi:10.1016/j.tins.2010.04.001 · Cited by 268 · see citing works
Sex-specific and lineage-specific alternative splicing in primatesPreprint
Blekhman, R., Marioni, J. C., Zumbo, P., Stephens, M., & Gilad, Y. (2009) · Genome Research · doi:10.1101/gr.099226.109 · Cited by 266 · see citing works
Climate change and evolving human diversity in Europe during the last glacial
Gamble, C., Davies, W., Pettitt, P., & Richards, M. B. (2004) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2003.1396 · Cited by 255 · see citing works
Accelerated Protein Evolution and Origins of Human-Specific Features: FOXP2 as an Example
Zhang, J., Webb, D., & Podlaha, O. (2002) · Genetics · doi:10.1093/genetics/162.4.1825 · Cited by 252 · see citing works
Extension of cortical synaptic development distinguishes humans from chimpanzees and macaques
Liu, X., Somel, M., Tang, L., Yan, Z., Jiang, X., Guo, S., Yuan, Y., He, L., Oleksiak, A., Zhang, Y., et al. (2012) · Genome Research · doi:10.1101/gr.127324.111 · Cited by 251 · see citing works
The evolution of human reproduction: A primatological perspective
Martin, R. D. (2007) · American Journal of Physical Anthropology · doi:10.1002/ajpa.20734 · Cited by 247 · see citing works
A burst of segmental duplications in the genome of the African great ape ancestor
Marquès‐Bonet, T., Kidd, J. M., Ventura, M., Graves, T., Cheng, Z., Hillier, L., Jiang, Z., Baker, C. A., Malfavon-Borja, R., Fulton, L. A., et al. (2009) · Nature · doi:10.1038/nature07744 · Cited by 245 · see citing works
Sequencing the chimpanzee genome: insights into human evolution and disease
Olson, M. V., & Varki, A. P. (2002) · Nature Reviews Genetics · doi:10.1038/nrg981 · Cited by 245 · see citing works
Self-citationAdaptive evolution of ASPM, a major determinant of cerebral cortical size in humans
Evans, P. D., Anderson, J. R., Vallender, E. J., Gilbert, S. L., Malcom, C. M., Dorus, S., & Lahn, B. T. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh055 · Cited by 240 · see citing works
Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size
Evans, P. D. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh126 · Cited by 220 · see citing works
Crocker, P. R. (2005) · Current Opinion in Pharmacology · doi:10.1016/j.coph.2005.03.003 · Cited by 206 · see citing works
Loss of Siglec expression on T lymphocytes during human evolution
Nguyen, D. H., Hurtado-Ziola, N., Gagneux, P., & Varki, A. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0510484103 · Cited by 204 · see citing works
Self-citationDuplication hotspots, rare genomic disorders, and common disease
Mefford, H. C., & Eichler, E. E. (2009) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2009.04.003 · Cited by 202 · see citing works
Arnold, S., Goglia, F., & Kadenbach, B. (1998) · European Journal of Biochemistry · doi:10.1046/j.1432-1327.1998.2520325.x · Cited by 198 · see citing works
Alleviation of Neurotoxicity by Microglial Human Siglec-11
Wang, Y., & Neumann, H. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.3940-09.2010 · Cited by 190 · see citing works
Human LineageSpecific Amplification, Selection, and Neuronal Expression of DUF1220 Domains
Popesco, M. C., MacLaren, E. J., Hopkins, J. A., Dumas, L., Cox, M., Meltesen, L., McGavran, L., Wyckoff, G. J., & Sikela, J. M. (2006) · Science · doi:10.1126/science.1127980 · Cited by 187 · see citing works
Self-citationDe Novo Origin of Human Protein-Coding Genes
Wu, D.-D., Irwin, D. M., & Zhang, Y.-P. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002379 · Cited by 183 · see citing works
Gene copy number variation spanning 60 million years of human and primate evolutionPreprint
Dumas, L., Kim, Y. H., Karimpour‐Fard, A., Cox, M., Hopkins, J. A., Pollack, J. R., & Sikela, J. M. (2007) · Genome Research · doi:10.1101/gr.6557307 · Cited by 174 · see citing works
Self-citationHuman uniqueness: genome interactions with environment, behaviour and culture
Varki, A. P., Geschwind, D. H., & Eichler, E. E. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2428 · Cited by 168 · see citing works
Self-citationWinn, V. D., Gormley, M. J., Paquet, A. C., Kjær-Sørensen, K., Kramer, A. W., Rumer, K. K., Haimov‐Kochman, R., Yeh, R., Overgaard, M. T., Varki, A. P., et al. (2008) · Endocrinology · doi:10.1210/en.2008-0990 · Cited by 168 · see citing works
Self-citationHuman aquaporin adipose (AQPap) gene
Kondo, H., Shimomura, I., Kishida, K., Kuriyama, H., Makino, Y., Nishizawa, H., Matsuda, M., Maeda, N., Nagaretani, H., Kihara, S., et al. (2002) · European Journal of Biochemistry · doi:10.1046/j.1432-1033.2002.02821.x · Cited by 155 · see citing works
Hotspots of Biased Nucleotide Substitutions in Human Genes
Berglund, J., Pollard, K. S., & Webster, M. T. (2009) · PLoS Biology · doi:10.1371/journal.pbio.1000026 · Cited by 152 · see citing works
Vandepoele, K., Roy, N. V., Staes, K., Speleman, F., & Roy, F. M. V. (2005) · Molecular Biology and Evolution · doi:10.1093/molbev/msi222 · Cited by 150 · see citing works
A Human-Specific De Novo Protein-Coding Gene Associated with Human Brain Functions
Li, C.-Y., Zhang, Y., Wang, Z., Zhang, Y., Cao, C., Zhang, P.-W., Lu, S.-J., Li, X.-M., Yu, Q., Zheng, X., et al. (2010) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1000734 · Cited by 130 · see citing works
Shin, E., Shin, K., Lee, C., Woo, K.-N., Quan, S., Soung, N., Kim, Y. G., Ik, C., Kim, S., Park, D., et al. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m203754200 · Cited by 127 · see citing works
DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution
Dumas, L., O’Bleness, M., Davis, J. M., Dickens, C. M., Anderson, N., Keeney, J., Jackson, J. B., Sikela, M., Raznahan, A., Giedd, J. N., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.07.016 · Cited by 123 · see citing works
Self-citationHuman-specific expression of Siglec-6 in the placenta
Brinkman-Van der Linden, E. C. M., Hurtado-Ziola, N., Hayakawa, T., Wiggleton, L., Benirschke, K., Varki, A., & Varki, N. (2007) · Glycobiology · doi:10.1093/glycob/cwm065 · Cited by 123 · see citing works
Self-citationAraud, T., Graw, S. L., Berger, R., Lee, M., Neveu, E., Bertrand, D., & Leonard, S. S. (2011) · Biochemical Pharmacology · doi:10.1016/j.bcp.2011.06.018 · Cited by 122 · see citing works
Genomic Copy Number Variation in Disorders of Cognitive Development
Morrow, E. M. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.08.009 · Cited by 120 · see citing works
Increased Cortical Expression of Two Synaptogenic Thrombospondins in Human Brain Evolution
Cáceres, M., Suwyn, C. R., Maddox, M., Thomas, J. W., & Preuss, T. M. (2006) · Cerebral Cortex · doi:10.1093/cercor/bhl140 · Cited by 114 · see citing works
Varki, N. M., Strobert, E. A., Dick, E. J., Benirschke, K., & Varki, A. P. (2011) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-011110-130315 · Cited by 114 · see citing works
Self-citationMetabolic changes in schizophrenia and human brain evolution
Khaitovich, P., Lockstone, H. E., Wayland, M. T., Tsang, T. M., Jayatilaka, S. D., Guo, A. J., Zhou, J., Somel, M., Harris, L. W., Holmes, E. C., et al. (2008) · Genome biology · doi:10.1186/gb-2008-9-8-r124 · Cited by 113 · see citing works
Sex-dependent association of common variants of microcephaly genes with brain structure
Rimol, L. M., Agartz, I., Djurovic, S., Brown, A. A., Roddey, J. C., Kähler, A. K., Mattingsdal, M., Athanasiu, L., Joyner, A. H., Schork, N. J., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0908454107 · Cited by 111 · see citing works
Varki, N. M., Anderson, D., Herndon, J. G., Pham, T. D., Gregg, C. J., Cheriyan, M., Murphy, J., Strobert, E. A., Fritz, J., Else, J. G., et al. (2009) · Evolutionary Applications · doi:10.1111/j.1752-4571.2008.00064.x · Cited by 109 · see citing works
Self-citationAn Evolutionary Genomic Approach to Identify Genes Involved in Human Birth Timing
Plunkett, J., Doniger, S. W., Orabona, G. M., Morgan, T., Haataja, R., Hallman, M., Puttonen, H., Menon, R., Kuczynski, E., Norwitz, E. R., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001365 · Cited by 109 · see citing works
Enard, W., & Pääbo, S. (2004) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.5.061903.180040 · Cited by 108 · see citing works
Bhatt, B., Burns, J., Flannery, D. B., & McGee, J. O. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.9.3951 · Cited by 106 · see citing works
Mutations and Polymorphisms of the FSH Receptor (FSHR) Gene
Lussiana, C., Guani, B., Mari, C., Restagno, G., Massobrio, M., & Revelli, A. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0b013e31818957eb · Cited by 102 · see citing works
Grallert, H., Dupuis, J., Bis, J. C., Dehghan, A., Barbalić, M., Baumert, J., Lu, C., Smith, N. L., Uitterlinden, A. G., Roberts, R., et al. (2011) · European Heart Journal · doi:10.1093/eurheartj/ehr372 · Cited by 100 · see citing works
The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence
Mekel-Bobrov, N., Danielle Posthuma, B., Gilbert, S. L., Lind, P. A., Gosso, M. F., Michelle Luciano, A., Harris, S. E., Bates, T. C., Polderman, T. J. C., Whalley, L. J., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddl487 · Cited by 87 · see citing works
Crow, T. J. (2002) · The British Journal of Psychiatry · doi:10.1192/bjp.181.4.295 · Cited by 85 · see citing works
Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ
Evans, P. D., Vallender, E. J., & Lahn, B. T. (2006) · Gene · doi:10.1016/j.gene.2006.02.019 · Cited by 84 · see citing works
Kouprina, N., Mullokandov, M., Rogozin, I. B., Collins, N. K., Solomon, G. G., Otstot, J., Risinger, J. I., Koonin, E. V., Barrett, J. C., & Larionov, V. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308532100 · Cited by 83 · see citing works
Hayakawa, T., Aki, I., Varki, A., Satta, Y., & Takahata, N. (2006) · Genetics · doi:10.1534/genetics.105.046995 · Cited by 80 · see citing works
Self-citationHennah, W., & Porteous, D. J. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004906 · Cited by 79 · see citing works
Saus, E., Brunet‐Vega, A., Armengol, L., Alonso, P., Crespo, J. M., Fernández‐Aranda, F., Guitart, M., Martín‐Santos, R., Menchón, J. M., Navinés, R., et al. (2010) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2010.03.007 · Cited by 79 · see citing works
Evolutionary History and Genome Organization of DUF1220 Protein Domains
O’Bleness, M., Dickens, C. M., Dumas, L., Kehrer‐Sawatzki, H., Wyckoff, G. J., & Sikela, J. M. (2012) · G3 Genes Genomes Genetics · doi:10.1534/g3.112.003061 · Cited by 75 · see citing works
Self-citationStructural and Functional Characterization of Human Peripheral Nervous System Myelin Protein P2
Majava, V., Polverini, E., Mazzini, A., Nanekar, R. T., Knoll, W., Peters, J., Natali, F., Baumgärtel, P., Kursula, I., & Kursula, P. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010300 · Cited by 74 · see citing works
Specific inactivation of two immunomodulatory <i>SIGLEC</i> genes during human evolution
Wang, X., Mitra, N., Secundino, I., Banda, K., Cruz, P., Padler-Karavani, V., Verhagen, A., Reid, C., Lari, M., Rizzi, E., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1119459109 · Cited by 72 · see citing works
Self-citationGenetic variation in PCDH11X is associated with susceptibility to late onset alzheimer's disease
Carrasquillo, M. M., Zou, F., Pankratz, V. S., Wilcox, S. L., Ma, L., Walker, L. P., Younkin, C. S., Younkin, L. H., Bisceglio, G. D., Ertekin‐Taner, N., et al. (2010) · Hirosaki igaku · Cited by 72 · see citing works
Sikela, J. M. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020080 · Cited by 71 · see citing works
Self-citationDifferent evolutionary fates of recently integrated human and chimpanzee LINE-1 retrotransposons
Lee, J., Cordaux, R., Han, K., Wang, J., Hedges, D. J., Liang, P., & Batzer, M. A. (2006) · Gene · doi:10.1016/j.gene.2006.08.029 · Cited by 70 · see citing works
Identification of a gene on chromosome 12q22 uniquely overexpressed in chronic lymphocytic leukemia
Buhl, A. M., Jurlander, J., Jørgensen, F. S., Ottesen, A. M., Cowland, J. B., Gjerdrum, L. M. R., Hansen, B. V., & Leffers, H. C. B. (2005) · Blood · doi:10.1182/blood-2005-07-2615 · Cited by 68 · see citing works
Identification of a Novel Protocadherin Gene (PCDH11) on the Human XY Homology Region in Xq21.3
Yoshida, K., & Sugano, S. (1999) · Genomics · doi:10.1006/geno.1999.6042 · Cited by 66 · see citing works
Endogenous retroviruses and human evolution
Khodosevich, K. V., Lebedev, Y. B., & Sverdlov, E. D. (2002) · Comparative and Functional Genomics · doi:10.1002/cfg.216 · Cited by 66 · see citing works
A 360-kb interchromosomal duplication of the human HYDIN locus
Doggett, N. A., Xie, G. G., Meincke, L., Sutherland, R. D., Mundt, M. O., Berbari, N. F., Davy, B. E., Robinson, M. L., Rudd, M. K., Weber, J. L., et al. (2006) · Genomics · doi:10.1016/j.ygeno.2006.07.012 · Cited by 64 · see citing works
Human-specific insertions and deletions inferred from mammalian genome sequencesPreprint
Chen, F., Chen, C.-J., Li, W., & Chuang, T. (2006) · Genome Research · doi:10.1101/gr.5429606 · Cited by 62 · see citing works
DUF1220 Domains, Cognitive Disease, and Human Brain EvolutionPreprint
Dumas, L., & Sikela, J. M. (2009) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2009.74.025 · Cited by 60 · see citing works
Self-citationSoto, P. C., Stein, L. L., Hurtado‐Ziola, N., Hedrick, S. Μ., & Varki, A. P. (2010) · The Journal of Immunology · doi:10.4049/jimmunol.0903420 · Cited by 56 · see citing works
Self-citationEvolution of Siglec-11 and Siglec-16 Genes in Hominins
Wang, X., Mitra, N. K., Cruz, P., Deng, L., Program, N. C. S., Varki, N. M., Angata, T., Green, E. D., Mullikin, J. C., Hayakawa, T., et al. (2012) · Molecular Biology and Evolution · doi:10.1093/molbev/mss077 · Cited by 54 · see citing works
Self-citationWilson, G. M., Flibotte, S., Missirlis, P. I., Marra, M. A., Jones, S. J. M., Thornton, K., Clark, A. G., & Holt, R. A. (2005) · Genome Research · doi:10.1101/gr.4456006 · Cited by 52 · see citing works
Evolution of alternative splicing in primate brain transcriptomes
Lin, L., Shen, S., Jiang, P., Sato, S., Davidson, B. L., & Xing, Y. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq201 · Cited by 52 · see citing works
Reduced Creatine Kinase B Activity in Multiple Sclerosis Normal Appearing White Matter
Steen, C., Wilczak, N., Hoogduin, J. M., Koch, M. W., & Keyser, J. D. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010811 · Cited by 51 · see citing works
Non‐syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair
Speevak, M. D., & Farrell, S. A. (2011) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31186 · Cited by 49 · see citing works
Subunit Va of human and bovine cytochrome c oxidase is highly conserved
Rizzuto, R., Nakase, H., Zeviani, M., DiMauro, S., & Schon, E. A. (1988) · Gene · doi:10.1016/0378-1119(88)90435-0 · Cited by 49 · see citing works
Thyroid hormones, mitochondrial bioenergetics and lipid handling
Cioffi, F., Lanni, A., & Goglia, F. (2010) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0b013e32833cf354 · Cited by 49 · see citing works
Molecular evolution of the cytochrome c oxidase subunit 5 A gene in primates
Uddin, M., Opazo, J. C., Wildman, D. E., Sherwood, C. C., Hof, P. R., Goodman, M., & Grossman, L. I. (2008) · BMC Evolutionary Biology · doi:10.1186/1471-2148-8-8 · Cited by 46 · see citing works
Ciesek, S., Westhaus, S., Wicht, M., Wappler, I., Henschen, S., Sarrazin, C., Hamdi, N., Abdelaziz, A. I., Strassburg, C. P., Wedemeyer, H. H., et al. (2011) · Journal of Virology · doi:10.1128/jvi.00212-11 · Cited by 43 · see citing works
The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
Ventura, M., Catacchio, C. R., Sajjadian, S., Vives, L., Sudmant, P. H., Marques-Bonet, T., Graves, T. A., Wilson, R. K., & Eichler, E. E. (2012) · Genome Research · doi:10.1101/gr.136556.111 · Cited by 42 · see citing works
A Potential Role for Glucose Transporters in the Evolution of Human Brain Size
Fedrigo, O. D., Pfefferle, A. D., Babbitt, C. C., Haygood, R., Wall, C. E., & Wray, G. A. (2011) · Brain Behavior and Evolution · doi:10.1159/000329852 · Cited by 35 · see citing works
Identification of human-specific transcript variants induced by DNA insertions in the human genome
Kim, D. S., & Hahn, Y. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq612 · Cited by 35 · see citing works
Goidts, V., Armengol, L., Schempp, W., Conroy, J. M., Nowak, N. J., Müller, S., Cooper, D. N., Estivill, X., Enard, W., Szamalek, J. M., et al. (2006) · Human Genetics · doi:10.1007/s00439-005-0130-9 · Cited by 34 · see citing works
Lucatelli, J. F., Barros, A. C., da Silva, V. K., MACHADO, F. D. S., Constantin, P. C., Dias, A., Hutz, M. H., & de Andrade, F. M. (2011) · Neurochemical Research · doi:10.1007/s11064-011-0481-7 · Cited by 34 · see citing works
Wang, X., Chow, R., Deng, L., Anderson, D., Weidner, N., Godwin, A. K., Bewtra, C., Zlotnik, A., Bui, J. D., Varki, A. P., et al. (2011) · Glycobiology · doi:10.1093/glycob/cwr039 · Cited by 33 · see citing works
Self-citationPfefferle, A. D., Warner, L., Wang, C. W., Nielsen, W., Babbitt, C. C., Fedrigo, O. D., & Wray, G. A. (2010) · Journal of Human Evolution · doi:10.1016/j.jhevol.2010.10.004 · Cited by 30 · see citing works
Methylation of twoHomo sapiens‐specific X‐Y homologous genes in Klinefelter's syndrome (XXY)
Ross, N., Wadekar, R. V., Lopes, A. M., Dagnall, A., Close, J. P., DeLisi, L. E., & Crow, T. J. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30339 · Cited by 29 · see citing works
Walker, C. G., Holness, M. J., Gibbons, G. F., & Sugden, M. C. (2007) · International Journal of Obesity · doi:10.1038/sj.ijo.0803555 · Cited by 27 · see citing works
Westbrook, V. A., Schoppee, P. D., Vanage, G. R., Klotz, K. L., Diekman, A. B., Flickinger, C. J., Coppola, M. A., & Herr, J. C. (2006) · Molecular Human Reproduction · doi:10.1093/molehr/gal079 · Cited by 26 · see citing works
Exploring the potential relevance of human-specific genes to complex disease
Cooper, D. N., & Kehrer‐Sawatzki, H. (2011) · Human Genomics · doi:10.1186/1479-7364-5-2-99 · Cited by 25 · see citing works
Hansen, J., Fernández, J. A., Notø, A. W., Deguchi, H., Björkegren, J., & Mathiesen, E. B. (2011) · Journal of Lipids · doi:10.1155/2011/271062 · Cited by 24 · see citing works
Apolipoprotein CI Knock-Out Mice Display Impaired Memory Functions
Berbée, J. F. P., Vanmierlo, T., Abildayeva, K., Blokland, A., Jansen, P. J., Lütjohann, D., Gautier, T., Sijbrands, E. J. G., Prickaerts, J., Hadfoune, M., et al. (2011) · Journal of Alzheimer s Disease · doi:10.3233/jad-2010-100576 · Cited by 23 · see citing works
Divergence, demography and gene loss along the human lineage
Kim, H. L., Igawa, T., Kawashima, A., Satta, Y., & Takahata, N. (2010) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2010.0004 · Cited by 21 · see citing works
Neuroblastoma - Present and Future
Shimada, H. (2012) · InTech eBooks · doi:10.5772/1251 · Cited by 20 · see citing works
Thoughts on the Future of Great Ape Research
McConkey, E. H., & Varki, A. P. (2005) · Science · doi:10.1126/science.1113863 · Cited by 19 · see citing works
Self-citationHuh, J., Kim, Y., Lee, S., Kim, H., Kim, D., Kim, H., Kang, H.-S., & Chang, K. (2009) · Molecules and Cells · doi:10.1007/s10059-009-0106-z · Cited by 18 · see citing works
Guiding Limited Use of Chimpanzees in Research
Altevogt, B. M., Pankevich, D. E., Pope, A. M., & Kahn, J. P. (2011) · Science · doi:10.1126/science.1217521 · Cited by 16 · see citing works
Detection of two distinct forms of apoC-I in great apes
Puppione, D. L., Ryan, C. M., Bassilian, S., Souda, P., Xiao, X. G., Ryder, O. A., & Whitelegge, J. P. (2009) · Comparative Biochemistry and Physiology Part D Genomics and Proteomics · doi:10.1016/j.cbd.2009.12.003 · Cited by 16 · see citing works
Kalmady, S. V., & Venkatasubramanian, G. (2008) · Schizophrenia Research · doi:10.1016/j.schres.2008.09.015 · Cited by 16 · see citing works
Goto, H., Watanabe, K., Araragi, N., Kageyama, R., Tanaka, K., Kuroki, Y., Toyoda, A., Hattori, M., Sakaki, Y., Fujiyama, A., et al. (2009) · BMC Evolutionary Biology · doi:10.1186/1471-2148-9-224 · Cited by 16 · see citing works
Fooladi, M. M. (2005) · Holistic Nursing Practice · doi:10.1097/00004650-200511000-00003 · Cited by 15 · see citing works
Baboon apolipoprotein C-I: cDNA and gene structure and evolution
Pastorcic, M., Birnbaum, S., & Hixson, J. E. (1992) · Genomics · doi:10.1016/0888-7543(92)90255-q · Cited by 12 · see citing works
Complex Evolution of a Y-Chromosomal Double Homeobox 4 (DUX4)-Related Gene Family in Hominoids
Schmidt, J., Kirsch, S., Rappold, G., & Schempp, W. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005288 · Cited by 8 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- [100]Ohno S Evolution by gene duplication Springer-Verlag 1970 A classic text that 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 620 · see citing works
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 · see citing works
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 584 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 295 · see citing works
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 · see citing works
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 200 · see citing works
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 170 · see citing works
Brain Plasticity and Human Evolution
Sherwood, C. C., & Gómez-Robles, A. (2017) · Annual Review of Anthropology · doi:10.1146/annurev-anthro-102215-100009 · Cited by 170 · see citing works
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 · see citing works
The evolution and population diversity of human-specific segmental duplications
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 · see citing works
Genetic Changes Shaping the Human Brain
Bae, B.-I., Jayaraman, D., & Walsh, C. A. (2015) · Developmental Cell · doi:10.1016/j.devcel.2015.01.035 · Cited by 135 · see citing works
Epigenomic annotation of gene regulatory alterations during evolution of the primate brain
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 123 · see citing works
Zhao, T., & Schranz, M. E. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1801757116 · Cited by 116 · see citing works
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 · see citing works
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 106 · see citing works
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 104 · see citing works
Levchenko, А., Kanapin, A. A., Samsonova, A. A., & Gainetdinov, R. R. (2017) · Genome Biology and Evolution · doi:10.1093/gbe/evx240 · Cited by 103 · see citing works
Human evolution: the non-coding revolution
Franchini, L. F., & Pollard, K. S. (2017) · BMC Biology · doi:10.1186/s12915-017-0428-9 · Cited by 90 · see citing works
Primate genome architecture influences structural variation mechanisms and functional consequences
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 · see citing works
Okerblom, J., & Varki, A. P. (2017) · ChemBioChem · doi:10.1002/cbic.201700077 · Cited by 80 · see citing works
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 78 · see citing works
Evolution of Gene Regulation in Humans
Reilly, S. K., & Noonan, J. P. (2016) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090314-045935 · Cited by 67 · see citing works
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 70 · see citing works
Gray, P. B. (2013) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22394 · Cited by 65 · see citing works
Genes, development, and evolvability in primate evolution
Rolian, C. (2014) · Evolutionary Anthropology Issues News and Reviews · doi:10.1002/evan.21409 · Cited by 61 · see citing works
Ancient pathogen genomics: insights into timing and adaptation
Harkins, K. M., & Stone, A. C. (2014) · Journal of Human Evolution · doi:10.1016/j.jhevol.2014.11.002 · Cited by 60 · see citing works
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 61 · see citing works
Jiménez, S. A., & Piera-Velázquez, S. (2013) · Autoimmunity Reviews · doi:10.1016/j.autrev.2013.04.004 · Cited by 60 · see citing works
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 57 · see citing works
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 · see citing works
The birth of a human-specific neural gene by incomplete duplication and gene fusion
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 · see citing works
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 · see citing works
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 · see citing works
Self-citationSynthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs
Zhang, X., Gierman, H. J., Levy, D. A., Plump, A. S., Dobrin, R., Göring, H. H. H., Curran, J. E., Johnson, M. P., Blangero, J., Kim, S. K., et al. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-532 · Cited by 47 · see citing works
Integrated analysis of the complete sequence of a macaque genome
Zhang, S., Xu, N., Fu, L., Yang, X., Ma, K., Li, Y., Yang, Z., Li, Z., Feng, Y., Jiang, X., et al. (2025) · Nature · doi:10.1038/s41586-025-08596-w · Cited by 48 · see citing works
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 · see citing works
Mascolo, M. F. (2016) · New Ideas in Psychology · doi:10.1016/j.newideapsych.2016.11.005 · Cited by 40 · see citing works
A reference catalog of DNA palindromes in the human genome and their variations in 1000 Genomes
Ganapathiraju, M. K., Subramanian, S., Chaparala, S., & Karunakaran, K. B. (2020) · Human Genome Variation · doi:10.1038/s41439-020-00127-5 · Cited by 40 · see citing works
The case for DUF1220 domain dosage as a primary contributor to anthropoid brain expansion
Keeney, J., Dumas, L., & Sikela, J. M. (2014) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2014.00427 · Cited by 37 · see citing works
Self-citationDerivation of induced pluripotent stem cells from orangutan skin fibroblasts
Ramaswamy, K. A., Yik, W. Y., Wang, X., Oliphant, E. N., Lu, W., Shibata, D. K., Ryder, O. A., & Hacia, J. G. (2015) · BMC Research Notes · doi:10.1186/s13104-015-1567-0 · Cited by 39 · see citing works
Vallés, A. S., & Barrantes, F. J. (2023) · Cells · doi:10.3390/cells12162051 · Cited by 37 · see citing works
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 33 · see citing works
Lascio, S. D., Fornasari, D., & Benfante, R. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23073463 · Cited by 35 · see citing works
Guardiola-Ripoll, M., & Fatjó‐Vilas, M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24043597 · Cited by 30 · see citing works
Genomic approaches to studying human-specific developmental traits
Franchini, L. F., & Pollard, K. S. (2015) · Development · doi:10.1242/dev.120048 · Cited by 29 · see citing works
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 · see citing works
The behavioral genetics of nonhuman primates: Status and prospects
Rogers, J. (2018) · American Journal of Physical Anthropology · doi:10.1002/ajpa.23384 · Cited by 27 · see citing works
Barr, K., Rhodes, K., & Gilad, Y. (2023) · Genome biology · doi:10.1186/s13059-023-03019-3 · Cited by 32 · see citing works
The evolution of the human genome
Simonti, C., & Capra, J. A. (2015) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2015.08.005 · Cited by 24 · see citing works
Davis, J. M., Quick, V. B. S., & Sikela, J. M. (2015) · Human Genetics · doi:10.1007/s00439-015-1537-6 · Cited by 25 · see citing works
Self-citationGenetic Mechanisms Underlying Cortical Evolution in Mammals
Franchini, L. F. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.591017 · Cited by 26 · see citing works
Genomic structural variation: A complex but important driver of human evolution
Soto, D. C., Uribe‐Salazar, J. M., Shew, C. J., Sekar, A., McGinty, S. P., & Dennis, M. Y. (2023) · American Journal of Biological Anthropology · doi:10.1002/ajpa.24713 · Cited by 25 · see citing works
The mammalian complement system as an epitome of host–pathogen genetic conflicts
Cagliani, R., Forni, D., Filippi, G., Mozzi, A., GIOIA, L. D., Pontremoli, C., Pozzoli, U., Bresolin, N., Clerici, M., & Sironi, M. (2016) · Molecular Ecology · doi:10.1111/mec.13558 · Cited by 25 · see citing works
Can a few non‐coding mutations make a human brain?
Franchini, L. F., & Pollard, K. S. (2015) · BioEssays · doi:10.1002/bies.201500049 · Cited by 22 · see citing works
Structured RNAs and synteny regions in the pig genome
Anthon, C., Tafer, H., Havgaard, J. H., Thomsen, B., Hedegaard, J., Seemann, S. E., Pundhir, S., Kehr, S., Canzler, S., Nielsen, M., et al. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-459 · Cited by 21 · see citing works
Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome
Benítez‐Burraco, A., Barcos, M., Espejo-Portero, I., Fernández-Urquiza, M., Torres-Ruiz, R., Rodríguez, S., & Jiménez-Romero, M. S. (2018) · Frontiers in Pediatrics · doi:10.3389/fped.2018.00163 · Cited by 19 · see citing works
Chen, Z.-B., Zhang, D., Reynolds, R., Gustavsson, E., García-Ruiz, S., D’Sa, K., Fairbrother-Browne, Á., Vandrovcova, J., Hardy, J., Houlden, H., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-22262-5 · Cited by 14 · see citing works
Dynamic chromatin architecture of the porcine adipose tissues with weight gain and loss
Jin, L. G., Wang, D., Zhang, J., Liu, P., Wang, Y., Yu, L., Liu, C., Han, Z., Long, K., Li, D., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-39191-0 · Cited by 20 · see citing works
Applied & translational genomics
ScienceDirect (2012) · Cited by 20 · see citing works
Superoxide dismutase 1 is positively selected to minimize protein aggregation in great apes
Dasmeh, P., & Kepp, K. P. (2017) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-017-2519-8 · Cited by 17 · see citing works
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 20 · see citing works
Self-citationSingle-cell-resolution transcriptome map of human, chimpanzee, bonobo, and macaque brainsPreprint
Khrameeva, E. E., Kurochkin, I., Han, D., Guijarro, P., Kanton, S., Santel, M., Qian, Z., Rong, S., Mazin, P., Bulat, M., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/764936 · Cited by 19 · see citing works
Disease consequences of human adaptation
Fay, J. C. (2013) · Applied & Translational Genomics · doi:10.1016/j.atg.2013.08.001 · Cited by 18 · see citing works
Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing
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 · see citing works
Cheung, J. P., Tubbs, J. D., & Sham, P. C. (2022) · Schizophrenia Research · doi:10.1016/j.schres.2022.06.023 · Cited by 17 · see citing works
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 18 · see citing works
Self-citationMouse models of human evolution
Enard, W. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2014.08.008 · Cited by 16 · see citing works
Injury, inflammation and the emergence of human‐specific genes
Baird, A., Costantini, T. W., Coimbra, R. S. M., & Eliceiri, B. P. (2016) · Wound Repair and Regeneration · doi:10.1111/wrr.12422 · Cited by 16 · see citing works
Evo‐Devo Sheds Light on Mechanisms of Human Evolution
Reno, P. L. (2015) · Wiley eBooks · doi:10.1002/9781118524756.ch5 · Cited by 16 · see citing works
Baird, A., Deng, C.-L., Eliceiri, M. H., Haghi, F., Dang, X., Coimbra, R. S. M., Costantini, T. W., Torbett, B. E., & Eliceiri, B. P. (2016) · Wound Repair and Regeneration · doi:10.1111/wrr.12471 · Cited by 15 · see citing works
The Role of Human-Specific Gene Duplications During Brain Development and Evolution
Sassa, T. (2013) · Journal of Neurogenetics · doi:10.3109/01677063.2013.789512 · Cited by 14 · see citing works
Human gephyrin is encompassed within giant functional noncoding yin–yang sequences
Climer, S., Templeton, A. R., & Zhang, W. (2015) · Nature Communications · doi:10.1038/ncomms7534 · Cited by 14 · see citing works
Recent Advances in Primate Phylogenomics
Pecon‐Slattery, J. (2014) · Annual Review of Animal Biosciences · doi:10.1146/annurev-animal-022513-114217 · Cited by 14 · see citing works
Humans and Chimpanzees Display Opposite Patterns of Diversity in Arylamine N-Acetyltransferase Genes
Vangenot, C., Gagneux, P., de Groot, N. G., Baumeyer, A., Mouterde, M., Crouau‐Roy, B., Darlu, P., Sanchez‐Mazas, A., Sabbagh, A., & Poloni, E. S. (2019) · G3 Genes Genomes Genetics · doi:10.1534/g3.119.400223 · Cited by 13 · see citing works
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 12 · see citing works
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 · see citing works
Modeling Normal and Disordered Human Hematopoiesis
Beer, P. A., & Eaves, C. J. (2015) · Trends in cancer · doi:10.1016/j.trecan.2015.09.002 · Cited by 12 · see citing works
Romagnoli, F. (2021) · Cambridge Archaeological Journal · doi:10.1017/s0959774320000384 · Cited by 7 · see citing works
De novo emergence and potential function of human-specific tandem repeats in brain-related loci
Kim, K., Bang, S., Yoo, D., Kim, H., & Suzuki, S. (2019) · Human Genetics · doi:10.1007/s00439-019-02017-5 · Cited by 10 · see citing works
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 · see citing works
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 · see citing works
de Magalhães, J. P., & Kean, M. (2013) · EMBO Reports · doi:10.1038/embor.2013.96 · Cited by 10 · see citing works
Brown, G. R., & Laland, K. N. (2024) · doi:10.1093/oso/9780198908203.001.0001 · Cited by 10 · see citing works
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 9 · see citing works
Lineage-Specific Changes in Biomarkers in Great Apes and Humans
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 · see citing works
Evolution of the Human Immune System
Danilova, N. (2013) · Wiley eBooks · doi:10.1002/9780470015902.a0020781.pub2 · Cited by 9 · see citing works
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 · see citing works
How Different Are Humans and “Great Apes”? A Matrix of Comparative Anthropogeny
Varki, A., & Gagneux, P. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-420190-3.00009-0 · Cited by 1 · see citing works
Self-citationUsing organoids to study human brain development and evolution
Chan, W. K., Fetit, R., Griffiths, R., Marshall, H., Mason, J. O., & Price, D. J. (2021) · Developmental Neurobiology · doi:10.1002/dneu.22819 · Cited by 8 · see citing works
A common 19 bp APOE enhancer deletion is protective against Alzheimer’s disease in African Americans
Brutman, J. N., Busald, T., Nizamis, E., Kaufman, E. J., Lin, E., Hendricks, N. E., Chintamen, S., Sulovari, A., Smukowski, S. N., Ye, Y., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-68808-3 · Cited by 7 · see citing works
THE HUMAN HEARTH AND THE DAWN OF MORALITY
Rappaport, M. B., & Corbally, C. J. (2016) · Zygon® · doi:10.1111/zygo.12299 · Cited by 7 · see citing works
The genome, microbiome and evolutionary medicine
Brunham, R. C. (2018) · Canadian Medical Association Journal · doi:10.1503/cmaj.170846 · Cited by 7 · see citing works
Decoding DNA sequence-driven evolution of the human brain epigenome at cellular resolution
Caglayan, E., & Konopka, G. (2025) · Nature Communications · doi:10.1038/s41467-025-60665-w · Cited by 6 · see citing works
EVOLUTION OF RELIGIOUS CAPACITY IN THE GENUS HOMO: ORIGINS AND BUILDING BLOCKS
Rappaport, M. B., & Corbally, C. J. (2018) · Zygon® · doi:10.1111/zygo.12386 · Cited by 5 · see citing works
High shear stress enhances endothelial permeability in the presence of the risk haplotype at 9p21.3
Teng, E. L., Masutani, E., Yeoman, B. M., Fung, J., Lian, R., Ngo, B., Kumar, A., Placone, J. K., Sardo, V. L., & Engler, A. J. (2021) · APL Bioengineering · doi:10.1063/5.0054639 · Cited by 6 · see citing works
Guardiola-Ripoll, M., Almodóvar-Payá, C., Arias-Magnasco, A., Latorre-Guardia, M., Papiol, S., Canales-Rodríguez, E. J., García‐León, M. Á., Fuentes‐Claramonte, P., Salavert, J., Tristany, J., et al. (2023) · Communications Biology · doi:10.1038/s42003-023-05356-2 · Cited by 6 · see citing works
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review