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Denisovan-Derived MUC19 Variant Rose in the Americas, Study Finds

Genome comparisons indicate positive selection on a mucin variant that entered Homo sapiens via Neanderthals.

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Fernando Villanea draws a diagram representing the passing of archaic variants on to modern humans. This diagram is the basis for a computer simulation that was used to test various demographic histories of MUC19 in modern Americans.
Denisovan Mucus Gene May Have Helped Humans Survive in The Americas
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Overview

  • The Science paper reports a Denisovan-like segment of MUC19 at high frequency in people with Indigenous American ancestry in both modern and ancient samples.
  • About 33% of Mexicans carry the variant, roughly 20% of Peruvians do, and around 1% of Colombians and Puerto Ricans carry it, according to 1000 Genomes data.
  • The variant appears in DNA from 23 ancient individuals from sites across North and South America, indicating it was common early in the peopling of the continent.
  • Genomic architecture shows a Denisovan core flanked by Neanderthal DNA, implying transfer from Denisovans to Neanderthals before reaching modern humans.
  • Signals of an unusually long archaic haplotype and elevated frequencies support positive selection, though the variant’s specific biological effects remain to be determined.