Evolution of hominin polyunsaturated fatty acid metabolism: From Africa to the New World

Daniel N. Harris, Ingo Ruczinski, Lisa R. Yanek, Lewis C. Becker, Diane M. Becker, Heinner Guio, Tao Cui, Floyd H. Chilton, Rasika A. Mathias, Timothy D. O’Connor

Research output: Contribution to journalArticle

Abstract

The metabolic conversion of dietary omega-3 and omega-6 18 carbon (18C) to long chain (>20 carbon) polyunsaturated fatty acids (LC-PUFAs) is vital for human life. The rate-limiting steps of this process are catalyzed by fatty acid desaturase (FADS) 1 and 2. Therefore, understanding the evolutionary history of the FADS genes is essential to our understanding of hominin evolution. The FADS genes have two haplogroups, ancestral and derived, with the derived haplogroup being associated with more efficient LC-PUFA biosynthesis than the ancestral haplogroup. In addition, there is a complex global distribution of these haplogroups that is suggestive of Neanderthal introgression. We confirm that Native American ancestry is nearly fixed for the ancestral haplogroup, and replicate a positive selection signal in Native Americans. This positive selection potentially continued after the founding of the Americas, although simulations suggest that the timing is dependent on the allele frequency of the ancestral Beringian population. We also find that the Neanderthal FADS haplotype is more closely related to the derived haplogroup and the Denisovan clusters closer to the ancestral haplogroup. Furthermore, the derived haplogroup has a time to the most recent common ancestor of 688,474 years before present. These results support an ancient polymorphism, as opposed to Neanderthal introgression, forming in the FADS region during the Pleistocene with possibly differential selection pressures on both haplogroups. The near fixation of the ancestral haplogroup in Native American ancestry calls for future studies to explore the potential health risk of associated low LC-PUFA levels in these populations.

Original languageEnglish (US)
Pages (from-to)1417-1430
Number of pages14
JournalGenome biology and evolution
Volume11
Issue number5
DOIs
StatePublished - May 1 2019

Keywords

  • Ancient DNA
  • Evolution
  • Polyunsaturated fatty acids
  • Population genetics

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics

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