The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Human LineageSpecific Amplification, Selection, and Neuronal Expression of DUF1220 Domains
Abstract
Extreme gene duplication is a major source of evolutionary novelty. A genome-wide survey of gene copy number variation among human and great ape lineages revealed that the most striking human lineage–specific amplification was due to an unknown gene, MGC8902 , which is predicted to encode multiple copies of a protein domain of unknown function (DUF1220). Sequences encoding these domains are virtually all primate-specific, show signs of positive selection, and are increasingly amplified generally as a function of a species' evolutionary proximity to humans, where the greatest number of copies (212) is found. DUF1220 domains are highly expressed in brain regions associated with higher cognitive function, and in brain show neuron-specific expression preferentially in cell bodies and dendrites.
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Cites
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
Cited by
Copy number variation in human health, disease, and evolution
Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207
Structural Variation in the Human Genome and its Role in Disease
Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-100708-204735 · Cited by 1,201
Cell-cycle control and cortical development
Dehay, C., & Kennedy, H. (2007) · Nature Reviews Neuroscience · doi:10.1038/nrn2097 · Cited by 655
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
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
Metadata
- Authors
- Popesco, M. C., MacLaren, E. J., Hopkins, J., Dumas, L., Cox, M., Meltesen, L., McGavran, L., Wyckoff, G. J., & Sikela, J. M.
- Venue
- Science
- Published
- 2006-09
- Volume
- 313
- Issue
- 5791
- Pages
- 1304-1307
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2026977699
- Cited by
- 187
- References
- 1
- FWCI
- 9.01
- Type
- journal article
- Language
- en
- Open access
- closed
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- Popesco, M. C., MacLaren, E. J., Hopkins, J., Dumas, L., Cox, M., Meltesen, L., McGavran, L., Wyckoff, G. J., & Sikela, J. M. (2006). Human LineageSpecific Amplification, Selection, and Neuronal Expression of DUF1220 Domains. Science. https://doi.org/10.1126/science.1127980
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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