The DOI matches its Crossref record; 66 of the 66 references it cites were found in a registry or an index.
Human-Chimpanzee Differences in a FZD8 Enhancer Alter Cell-Cycle Dynamics in the Developing Neocortex
Open accessAbstract
Summary The human neocortex differs from that of other great apes in several notable regards including altered cell cycle, prolonged corticogenesis, and increased size [1–5]. While these evolutionary changes likely contributed to the origin of distinctively human cognitive faculties, their genetic basis remains almost entirely unknown. Highly conserved non-coding regions showing rapid sequence changes along the human lineage are candidate loci for the development and evolution of uniquely human traits. Several studies have identified human-accelerated enhancers [6–14], but none have linked an expression difference to a specific organismal trait. Here we report the discovery of a human-accelerated regulatory enhancer (HARE5) of FZD8, a receptor of the Wnt pathway implicated in brain development and size [15, 16]. Using transgenic mice, we demonstrate dramatic differences in human and chimpanzee HARE5 activity, with human HARE5 driving early and robust expression at the onset of corticogenesis. Similar to HARE5 activity, FZD8 is expressed in neural progenitors of the developing neocortex [17–19]. Chromosome conformation capture assays reveal HARE5 physically and specifically contacts the core Fzd8 promoter in the mouse embryonic neocortex. To assess the phenotypic consequences of HARE5 activity, we generated transgenic mice in which Fzd8 expression is under control of orthologous enhancers (Pt-HARE5::Fzd8 and Hs-HARE5::Fzd8). In comparison to Pt-HARE5::Fzd8, Hs-HARE5::Fzd8 mice showed marked acceleration of neural progenitor cell cycle and increased brain size. Changes in HARE5 function unique to humans thus alter cell cycle dynamics of a critical population of stem cells during corticogenesis, and may underlie some distinctive anatomical features of the human brain.
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Cites
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BackgroundA guide to choosing fluorescent proteins
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ChIP-seq accurately predicts tissue-specific activity of enhancers
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Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution
Pollen, A. A., Bhaduri, A., Andrews, M. G., Nowakowski, T. J., Meyerson, O. S., Mostajo-Radji, M. A., Di Lullo, E., Alvarado, B., Bedolli, M., Dougherty, M. L., et al. (2019) · Cell · doi:10.1016/j.cell.2019.01.017 · Cited by 600
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
Otani, T., Marchetto, M. C., Gage, F. H., Simons, B. D., & Livesey, F. J. (2016) · Cell Stem Cell · doi:10.1016/j.stem.2016.03.003 · Cited by 353
High-resolution comparative analysis of great ape genomes
Kronenberg, Z. N., Fiddes, I. T., Gordon, D., Murali, S., Cantsilieris, S., Meyerson, O. S., Underwood, J. G., Nelson, B. J., Chaisson, M. J. P., Dougherty, M. L., et al. (2018) · Science · doi:10.1126/science.aar6343 · Cited by 350
Metadata
- Authors
- Boyd, J. L., Skove, S. L., Rouanet, J. P., Pilaz, L.-J., Bepler, T., Gordân, R., Wray, G. A., & Silver, D. L.
- Venue
- Current Biology
- Publisher
- Elsevier BV
- Published
- 2015-03
- Volume
- 25
- Issue
- 6
- Pages
- 772-779
- ISSN
- 0960-9822 (ISSN-L)
- OpenAlex
- W2152156139
- Cited by
- 285
- References
- 66
- FWCI
- 9.91
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Boyd, J. L., Skove, S. L., Rouanet, J. P., Pilaz, L.-J., Bepler, T., Gordân, R., Wray, G. A., & Silver, D. L. (2015). Human-Chimpanzee Differences in a FZD8 Enhancer Alter Cell-Cycle Dynamics in the Developing Neocortex. Current Biology. https://doi.org/10.1016/j.cub.2015.01.041
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