The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
Distance from sub-Saharan Africa predicts mutational load in diverse human genomes
Open accessAbstract
Significance: Human genomes carry hundreds of mutations that are predicted to be deleterious in some environments, potentially affecting the health or fitness of an individual. We characterize the distribution of deleterious mutations among diverse human populations, modeled under different selection coefficients and dominance parameters. Using a new dataset of diverse human genomes from seven different populations, we use spatially explicit simulations to reveal that classes of deleterious alleles have very different patterns across populations, reflecting the interaction between genetic drift and purifying selection. We show that there is a strong signal of purifying selection at conserved genomic positions within African populations, but most predicted deleterious mutations have evolved as if they were neutral during the expansion out of Africa.
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Citations
Cites
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
Inference of human population history from individual whole-genome sequences
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Genome-wide detection and characterization of positive selection in human populations
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A high-coverage genome sequence from an archaic denisovan individual
Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science · doi:10.1126/science.1224344 · Cited by 1,967
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science · doi:10.1126/science.1219240 · Cited by 1,613
Self-citationSequencing of 50 Human Exomes Reveals Adaptation to High Altitude
Yi, X., Liang, Y., Huerta-Sanchez, E., Jin, X., Cuo, Z. X. P., Pool, J. E., Xu, X., Jiang, H., Vinckenbosch, N., Korneliussen, T. S., et al. (2010) · Science · doi:10.1126/science.1190371 · Cited by 1,611 · cited 1×
“Others have emphasized evidence for pervasive adaptive selection(53, 54) and a variety of studies have identified specific beneficial alleles locally adapted to high altitude, immune response and pigmentation(55-57).”
BackgroundSlightly Deleterious Mutant Substitutions in Evolution
OHTA, T. (1973) · Nature · doi:10.1038/246096a0 · Cited by 1,104
Signals of recent positive selection in a worldwide sample of human populations
Pickrell, J. K., Coop, G., Novembre, J., Kudaravalli, S., Li, J. Z., Absher, D., Srinivasan, B. S., Barsh, G. S., Myers, R. M., Feldman, M. W., et al. (2009) · Genome Research · doi:10.1101/gr.087577.108 · Cited by 717
Assessing the evolutionary impact of amino acid mutations in the human genome.
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Self-citationRecent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
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Cited by
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
Martin, A. R., Gignoux, C. R., Walters, R. K., Wojcik, G. L., Neale, B. M., Gravel, S., Daly, M. J., Bustamante, C. D., & Kenny, E. E. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.03.004 · Cited by 1,391
Self-citationUnderstanding Inbreeding Depression, Purging, and Genetic Rescue
Hedrick, P. W., & Garcia-Dorado, A. (2016) · Trends in Ecology & Evolution · doi:10.1016/j.tree.2016.09.005 · Cited by 668
The inflated significance of neutral genetic diversity in conservation genetics
Teixeira, J. C., & Huber, C. D. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2015096118 · Cited by 474
The Genetic Cost of Neanderthal Introgression
Harris, K., & Nielsen, R. (2016) · Genetics · doi:10.1534/genetics.116.186890 · Cited by 419
Marsden, C. D., Ortega-Del Vecchyo, D., O’Brien, D. P., Taylor, J. F., Ramirez, O., Vilà, C., Marques-Bonet, T., Schnabel, R. D., Wayne, R. K., & Lohmueller, K. E. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1512501113 · Cited by 333
Metadata
- Authors
- Henn, B. M., Botigué, L. R., Peischl, S., Dupanloup, I., Lipatov, M., Maples, B. K., Martin, A. R., Musharoff, S., Cann, H., Snyder, M. P., Excoffier, L., Kidd, J. M., & Bustamante, C. D.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2015-12-28
- Volume
- 113
- Issue
- 4
- Pages
- E440-9
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2217029310
- Cited by
- 268
- References
- 18
- FWCI
- 18.50
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Henn, B. M., Botigué, L. R., Peischl, S., Dupanloup, I., Lipatov, M., Maples, B. K., Martin, A. R., Musharoff, S., Cann, H., Snyder, M. P., Excoffier, L., Kidd, J. M., & Bustamante, C. D. (2016). Distance from sub-Saharan Africa predicts mutational load in diverse human genomes. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1510805112
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