The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
High genomic deleterious mutation rates in hominids
Open accessAbstract
It has been suggested that humans may suffer a high genomic deleterious mutation rate,. Here we test this hypothesis by applying a variant of a molecular approach to estimate the deleterious mutation rate in hominids from the level of selective constraint in DNA sequences. Under conservative assumptions, we estimate that an average of 4.2 amino-acid-altering mutations per diploid per generation have occurred in the human lineage since humans separated from chimpanzees. Of these mutations, we estimate that at least 38% have been eliminated by natural selection, indicating that there have been more than 1.6 new deleterious mutations per diploid genome per generation. Thus, the deleterious mutation rate specific to protein-coding sequences alone is close to the upper limit tolerable by a species such as humans that has a low reproductive rate, indicating that the effects of deleterious mutations may have combined synergistically. Furthermore, the level of selective constraint in hominid protein-coding sequences is atypically low. A large number of slightly deleterious mutations may therefore have become fixed in hominid lineages.
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Thompson, J. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.24.4876 · Cited by 38,993
The Neutral Theory of Molecular Evolution
Kimura, M. (1979) · Scientific American · doi:10.1038/scientificamerican1179-98 · Cited by 7,666
The Neutral Theory of Molecular Evolution
Kimura, M. (1983) · Cambridge University Press eBooks · doi:10.1017/cbo9780511623486 · Cited by 6,347
A molecular timescale for vertebrate evolution
Kumar, S., & Hedges, S. B. (1998) · Nature · doi:10.1038/31927 · Cited by 1,936
Drake, J. W., Charlesworth, B., Charlesworth, D., & Crow, J. F. (1998) · Genetics · doi:10.1093/genetics/148.4.1667 · Cited by 1,932
Number of CpG islands and genes in human and mouse.
Antequera, F., & Bird, A. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.24.11995 · Cited by 996
Ache Life History: The Ecology and Demography of a Foraging People.
Howell, N., Hill, K., & Hurtado, A. M. (1996) · Population and Development Review · doi:10.2307/2137817 · Cited by 839
Muller, H. J. (1950) · Europe PMC (PubMed Central) · Cited by 753
Goodman, M., Porter, C. A., Czelusniak, J., Page, S. L., Schneider, H., Shoshani, J., Gunnell, G., & Groves, C. P. (1998) · Molecular Phylogenetics and Evolution · doi:10.1006/mpev.1998.0495 · Cited by 743
Mutation rates differ among regions of the mammalian genome
Wolfe, K. H., Sharp, P. M., & Li, W.-H. (1989) · Nature · doi:10.1038/337283a0 · Cited by 601
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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
Characterization of single-nucleotide polymorphisms in coding regions of human genes
Cargill, M., Altshuler, D., Ireland, J., Sklar, P., Ardlie, K., Patil, N., Lane, C. R., Lim, E. P., Kalyanaraman, N., Nemesh, J., et al. (1999) · Nature Genetics · doi:10.1038/10290 · Cited by 1,547
Distribution and intensity of constraint in mammalian genomic sequence
Cooper, G. M., Stone, E. A., Asimenos, G., Green, E. D., Batzoglou, S., & Sidow, A. (2005) · Genome Research · doi:10.1101/gr.3577405 · Cited by 1,359
Are Rare Variants Responsible for Susceptibility to Complex Diseases?
Pritchard, J. K. (2001) · The American Journal of Human Genetics · doi:10.1086/321272 · Cited by 1,197
The origins, patterns and implications of human spontaneous mutation
Crow, J. F. (2000) · Nature Reviews Genetics · doi:10.1038/35049558 · Cited by 928
Metadata
- Authors
- Eyre-Walker, A., & Keightley, P. D.
- Venue
- Nature
- Published
- 1999-01
- Volume
- 397
- Issue
- 6717
- Pages
- 344-347
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W1502061430
- Cited by
- 398
- References
- 29
- FWCI
- 17.22
- Type
- journal article
- Language
- en
- Open access
- green
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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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