Genetic basis of human brain evolution
Open accessAbstract
Human evolution is characterized by a rapid increase in brain size and complexity. Decades of research have made important strides in identifying anatomical and physiological substrates underlying the unique features of the human brain. By contrast, it has become possible only very recently to examine the genetic basis of human brain evolution. Through comparative genomics, tantalizing insights regarding human brain evolution have emerged. The genetic changes that potentially underlie human brain evolution span a wide range from single-nucleotide substitutions to large-scale structural alterations of the genome. Similarly, the functional consequences of these genetic changes vary greatly, including protein-sequence alterations, cis-regulatory changes and even the emergence of new genes and the extinction of existing ones. Here, we provide a general review of recent findings into the genetic basis of human brain evolution, highlight the most notable trends that have emerged and caution against over-interpretation of current data.
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Comparative microarray studies have shown a high degree of conservation across species in overall gene expression, although there is considerable upregulation of brain gene expression in humans compared to non-human primates.
“However, comparative microarray studies have shown a high degree of conservation across species in overall gene expression, although there is considerable upregulation of brain gene expression in humans compared to non-human primates (Khaitovich et al., 2006; Preuss et al., 2004; Vallender et al., 2008).”
From Large-Scale Cellular-Resolution Gene Profiling in Human Neocortex Reveals Species-Specific Molecular Signatures (2012) · cites this paper as Vallender et al., 2008
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The evolution of distributed association networks in the human brain
Buckner, R. L., & Krienen, F. M. (2013) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2013.09.017 · Cited by 836 · see citing works
Zeng, H., Shen, E. H., Hohmann, J. G., Oh, S. W., Bernard, A., Royall, J. J., Glattfelder, K. J., Sunkin, S. M., Morris, J. A., Guillozet-Bongaarts, A. L., et al. (2012) · Cell · doi:10.1016/j.cell.2012.02.052 · Cited by 426 · see citing works
Emerging roles of neural stem cells in cerebral cortex development and evolution
Borrell, V., & Reillo, I. (2012) · Developmental Neurobiology · doi:10.1002/dneu.22013 · Cited by 185 · 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
Accelerated Recruitment of New Brain Development Genes into the Human Genome
Zhang, Y. E., Landback, P., Vibranovski, M. D., & Long, M. (2011) · PLoS Biology · doi:10.1371/journal.pbio.1001179 · Cited by 164 · 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
Climbing Brain Levels of Organisation from Genes to Consciousness
Changeux, J.-P. (2017) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2017.01.004 · Cited by 61 · see citing works
- Authors
- Vallender, E. J., Mekel-Bobrov, N., & Lahn, B. T.
- Affiliations
- Harvard University (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Vallender, Eric J.
- Lahn, Bruce T.
- Venue
- Trends in Neurosciences
- Publisher
- Elsevier BV
- Published
- 2008-12
- Volume
- 31
- Issue
- 12
- Pages
- 637-644
- ISSN
- 0166-2236 (ISSN-L)
- PMC
- PMC2715140
- OpenAlex
- W2127441450
- Cited by
- 102
- References
- 91
- Citations by year
- 2026: 4 · 2025: 1 · 2024: 6 · 2023: 3 · 2022: 5 · 2021: 9 · 2020: 4 · 2019: 4 · 2018: 2 · 2017: 7 · 2016: 6 · 2015: 4 · 2014: 4 · 2013: 12 · 2012: 9
- FWCI
- 0.69
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Trends in Neurosciences (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (F32MH082507)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Keywords
- human brain evolution, comparative genomics, brain size increase, single nucleotide substitution, structural genomic alterations, protein sequence evolution
- MeSH terms
- Animals, Brain, Humans, Nerve Tissue Proteins, Hominidae, Evolution, Molecular
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.
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