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Evolution of the rapidly mutating human salivary agglutinin gene ( DMBT1 ) and population subsistence strategy
Abstract
Significance: Humans have undergone an evolutionary very recent change in environment of their own making. The development of agriculture profoundly altered diet and exposure to pathogens, and yet the evolutionary response to this is still poorly understood. Here, we characterize extensive copy number variation (CNV) of the gene encoding salivary agglutinin (deleted in malignant brain tumors 1, DMBT1 ). Salivary agglutinin comprises 10% of salivary protein and binds bacteria, including mediating the attachment of the causative agent of dental caries, Streptococcus mutans , to teeth. We show that DMBT1 is a very fast-mutating protein-coding locus, and DMBT1 CNV correlates with a population history of agriculture. Furthermore, we examine the relationship between variation of the S. mutans region that binds salivary agglutinin and CNV of the DMBT1 gene.
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“To validate the computational callsets, we used: aCGH; alkaline lysis fibre-FISH, following the protocol of Perry, et al.42; and molecular combing fibre-FISH, following Polley et al.43, Carpenter et al.44, and instructions from the manufacturer, Genomic Vision.”
From Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences (2016) · cites this paper as [43]
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Cited by
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
The 1000 Genomes Project Consortium, Poznik, G. D., Xue, Y., Mendez, F. L., Willems, T. F., Massaia, A., Wilson Sayres, M. A., Ayub, Q., McCarthy, S. A., Narechania, A., et al. (2016) · Nature Genetics · doi:10.1038/ng.3559 · Cited by 331
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Metadata
- Authors
- Polley, S., Louzada, S., Forni, D., Sironi, M., Balaskas, T., Hains, D. S., Yang, F., & Hollox, E. J.
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2015-04-06
- Volume
- 112
- Issue
- 16
- Pages
- 5105-5110
- ISSN
- 0027-8424
- 1091-6490
- Cited by
- 39
- References
- 8
- Language
- en
- Funders
- Medical Research Council (GO801123)
- Wellcome Trust (WT098051)
- HHS | National Institutes of Health (RC4DK090937-01)
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