Revisiting the Evolution of Lactase Persistence: Insights from South Asian Genomes
Elise Kerdoncuff, Meaghan Marohn, Nathan Cramer et al.
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This population-genomic study assembled and analyzed genome-wide data from ~8,000 present-day and ancient individuals from India, Pakistan, and Bangladesh (spanning ~3300 BCE–1650 CE) to investigate the origin and evolutionary history of lactase persistence (LP) in South Asia. The authors report that the Eurasian LP-associated variant -13910:C>T is widespread in South Asia with clinal north–south and east–west variation. Ancient DNA evidence indicates the variant arrived in the region during historical/medieval times via Steppe-related gene flow. For most contemporary South Asians, LP prevalence is largely explained by Steppe-derived ancestry rather than widespread recent selection; however, two pastoralist groups (the Toda of South India and Gujjar of Pakistan) show unusually high -13910*T frequencies and evidence of local selection and enrichment of Steppe ancestry around the LCT locus. The results emphasize the complex interplay of ancestry and selection in shaping LP distribution on the subcontinent.
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