@article {314465, title = {Archaic hominin introgression in Africa contributes to functional salivary MUC7 genetic variation}, journal = {Molecular Biology and Evolution}, year = {2017}, pages = {msx206}, 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 5 or 6 PTS-repeat copy number alleles. Contrary to previous studies, we found no associations between the copy number of PTS-repeat copy number 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.

}, doi = {https://doi.org/10.1093/molbev/msx206}, url = {https://academic.oup.com/mbe/article/3988100/Archaic-hominin-introgression-in-Africa?searchresult=1}, author = {Xu, Duo and Pavlidis, Pavlos and Taskent, Recep Ozgur and Alachiotis, Nikolaos and Flanagan, Colin and DeGiorgio, Michael and Blekhman, Ran and Ruhl, Stefan and Gokcumen, Omer} }