Positive selection of lactase persistence among people of Southern Arabia

• Published in: American journal of physical anthropology 2016-12, Vol.161 (4), p.676-684
• Main Authors: Bayoumi, Riad, De Fanti, Sara, Sazzini, Marco, Giuliani, Cristina, Quagliariello, Andrea, Bortolini, Eugenio, Boattini, Alessio, Al-Habori, Molham, Al-Zubairi, Adel Sharaf, Rose, Jeffrey I., Romeo, Giovanni, Al-Abri, Abdulrahim, Luiselli, Donata
• Format: Article
• Language: English
• Subjects: Alleles; Anthropology, Physical; Candidates; Continental Population Groups - genetics; Differentiation; Diffusion; Dispersal; Domestication; Genes; Genetic diversity; Genetics, Population; Genomics; Haplotypes; Holocene; Human Migration; Humans; Indigenous peoples; Lactase - genetics; lactose tolerance; Linkage Disequilibrium; natural selection; Pleistocene; Polymorphism, Single Nucleotide - genetics; Population differentiation; Population structure; Refugia; Selection, Genetic - genetics; Southern Arabian populations; Yemen
• ISSN: 0002-9483; 1096-8644; 2692-7691
• DOI: 10.1002/ajpa.23072

Objective Frequency patterns of the lactase persistence (LP)‐associated −13,915 G allele and archaeological records pointing to substantial role played by southern regions in the peopling and domestication processes that involved the Arabian Peninsula suggest that Southern Arabia plausibly represented the center of diffusion of such adaptive variant. Nevertheless, a well‐defined scenario for evolution of Arabian LP is still to be elucidated and the burgeoning archaeological picture of complex human migrations occurred through the peninsula is not matched by an equivalent high‐resolution description of genetic variation underlying this adaptive trait. To fill this gap, we investigated diversity at a wide genomic interval surrounding the LCT gene in different Southern Arabian populations. Methods 40 SNPs were genotyped to characterize LCT profiles of 630 Omani and Yemeni individuals to perform population structure, linkage disequilibrium, population differentiation‐based and haplotype‐based analyses. Results Typical Arabian LP‐related variation was found in Dhofaris and Yemenis, being characterized by private haplotypes carrying the −13,915 G allele, unusual differentiation with respect to northern groups and conserved homozygous haplotype‐blocks, suggesting that the adaptive allele was likely introduced in the Arabian gene pool in southern populations and was then subjected to prolonged selective pressure. Conclusion By pointing to Yemen as one of the best candidate centers of diffusion of the Arabian‐specific adaptive variant, obtained results indicate the spread of indigenous groups as the main process underlying dispersal of LP along the Arabian Peninsula, supporting a refugia model for Arabian demic movements occurred during the Terminal Pleistocene and Early Holocene.