An RNA gene expressed during cortical development evolved rapidly in humans
Open accessAbstract
The developmental and evolutionary mechanisms behind the emergence of human-specific brain features remain largely unknown. However, the recent ability to compare our genome to that of our closest relative, the chimpanzee, provides new avenues to link genetic and phenotypic changes in the evolution of the human brain. We devised a ranking of regions in the human genome that show significant evolutionary acceleration. Here we report that the most dramatic of these 'human accelerated regions', HAR1, is part of a novel RNA gene (HAR1F) that is expressed specifically in Cajal-Retzius neurons in the developing human neocortex from 7 to 19 gestational weeks, a crucial period for cortical neuron specification and migration. HAR1F is co-expressed with reelin, a product of Cajal-Retzius neurons that is of fundamental importance in specifying the six-layer structure of the human cortex. HAR1 and the other human accelerated regions provide new candidates in the search for uniquely human biology.
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Comparison of selected vertebrate orthologs revealed seven nucleotide substitutions between Homo sapiens and chimpanzee HAR202 sequences.
“we compared selected vertebrate orthologs using BLAT and also through a multiple sequence alignment (ClustalW) and observed seven nucleotide substitutions when comparing the Homo sapiens and the chimpanzee (Pan troglodytes) sequences (Fig. 1a and b), evidencing the accelerated evolution signature previously detected in this region (Pollard et al. 2006; Fig. 1a).”
From The Human Accelerated Region HAR202 Controls <i>NPAS3</i> Expression in the Developing Forebrain Displaying Differential Enhancer Activity Between Modern and Archaic Human Sequences (2024) · cites this paper as Pollard et al. 2006
Comparative genomic methods have identified putative conserved cis-regulatory elements or regulatory RNAs, a disproportionate number of which are proposed to regulate human brain-expressed genes.
“Comparative genomic methods have been applied by several groups (Lindblad-Toh et al., 2011; Margulies et al., 2007; Pennacchio et al., 2006; Pollard et al., 2006; Prabhakar et al., 2006; Siepel et al., 2005) to identify putative conserved CREs or regulatory RNAs, a disproportionate number of which are proposed to regulate human brain-expressed genes (Johnson et al., 2009; Pennacchio et al., 2006;”
From The Cellular and Molecular Landscapes of the Developing Human Central Nervous System (2016) · cites this paper as Pollard et al., 2006
Genetic changes that occurred as Homo sapiens diverged from the common ancestor of primates are identifiable as human-specific regions of the genome.
“Genetic changes that occurred as Homo sapiens diverged from the common ancestor of primates are identifiable as human-specific regions of the genome (Pollard et al., 2006).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Pollard et al., 2006
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- Authors
- Pollard, K. S., Salama, S. R., Lambert, N., Lambot, M.-A., Coppens, S., Pedersen, J. S., Katzman, S., King, B., Onodera, C., Siepel, A., Kern, A. D., Dehay, C., Igel, H., Ares, M., Vanderhaeghen, P., & Haussler, D.
- Affiliations
- University of California, Santa Cruz (US)
- Howard Hughes Medical Institute (US)
- Université Libre de Bruxelles (BE)
- Lyon 1 Université (FR)
- Corresponding author
- Haussler, David
- ORCID
- Venue
- Nature
- Published
- 2006-08-16
- Volume
- 443
- Issue
- 7108
- Pages
- 167-172
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2146120203
- Cited by
- 1,005
- References
- 61
- Citations by year
- 2026: 28 · 2025: 40 · 2024: 59 · 2023: 46 · 2022: 28 · 2021: 34 · 2020: 19 · 2019: 42 · 2018: 38 · 2017: 51 · 2016: 32 · 2015: 52 · 2014: 44 · 2013: 68 · 2012: 46
- FWCI
- 22.25
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- other-oa
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Dépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) (submittedVersion, other-oa)
- Lirias (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Funders
- National Institute of General Medical Sciences (R01GM040478)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- human accelerated regions, RNA genes, cortical development, Cajal-Retzius neurons, neocortex, reelin, human brain evolution, comparative genomics, chimpanzees, gene expression, neuronal migration
- MeSH terms
- Reelin Protein, Aging, Animals, Base Sequence, Cerebral Cortex, Humans, Macaca, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Nucleic Acid Conformation, Organ Specificity, Serine Endopeptidases, Time Factors, Cell Adhesion Molecules, Neuronal, Extracellular Matrix Proteins, Gene Expression Regulation, Developmental, Evolution, Molecular, Neocortex, Gene Expression Profiling, RNA Stability, RNA, Untranslated
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