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

Duo Xu, Pavlos Pavlidis, Recep Ozgur Taskent, Nikolaos Alachiotis, Colin Flanagan, Michael Degiorgio, Ran Blekhman, Stefan Ruhl, Omer Gokcumen

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)2704-2715
Number of pages12
JournalMolecular biology and evolution
Issue number10
StatePublished - Oct 1 2017

All Science Journal Classification (ASJC) codes

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Genetics


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