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Mol Biol Evol. 2017 Oct 1;34(10):2704-2715. doi: 10.1093/molbev/msx206.

Archaic Hominin Introgression in Africa Contributes to Functional Salivary MUC7 Genetic Variation.

Author information

1
Department of Biological Sciences, University at Buffalo, The State University of New York, Buffalo, NY.
2
Institute of Molecular Biology and Biotechnology (IMBB), Foundation for Research and Technology - Hellas, Heraklion, Crete, Greece.
3
Institute of Computer Science (ICS), Foundation for Research and Technology - Hellas, Heraklion, Crete, Greece.
4
Department of Biology and the Institute for CyberScience, Pennsylvania State University, University Park, PA.
5
Department of Genetics, Cell Biology, and Development, University of Minnesota, Twin Cities, MN.
6
Department of Oral Biology, School of Dental Medicine, University at Buffalo, The State University of New York, Buffalo, NY.

Abstract

One of the most abundant proteins in human saliva, mucin-7, is encoded by the MUC7 gene, which harbors copy number variable subexonic repeats (PTS-repeats) that affect the size and glycosylation potential of this protein. We recently documented the adaptive evolution of MUC7 subexonic copy number variation among primates. Yet, the evolution of MUC7 genetic variation in humans remained unexplored. Here, we found that PTS-repeat copy number variation has evolved recurrently in the human lineage, thereby generating multiple haplotypic backgrounds carrying five or six PTS-repeat copy number alleles. Contrary to previous studies, we found no associations between the copy number of PTS-repeats and protection against asthma. Instead, we revealed a significant association of MUC7 haplotypic variation with the composition of the oral microbiome. Furthermore, based on in-depth simulations, we conclude that a divergent MUC7 haplotype likely originated in an unknown African hominin population and introgressed into ancestors of modern Africans.

KEYWORDS:

ABC simulation; CNV; human evolution; microbiome; mucin; recurrent mutation; saliva; structural variation

PMID:
28957509
PMCID:
PMC5850612
DOI:
10.1093/molbev/msx206
[Indexed for MEDLINE]
Free PMC Article

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