Wild worm embryogenesis harbors ubiquitous polygenic modifier variation

Annalise B. Paaby, Amelia G. White, David D. Riccardi, Kristin C. Gunsalus, Fabio Piano, Matthew V. Rockman

Research output: Contribution to journalArticlepeer-review

Abstract

Embryogenesis is an essential and stereotypic process that nevertheless evolves among species. Its essentiality may favor the accumulation of cryptic genetic variation (CGV) that has no effect in the wild-type but that enhances or suppresses the effects of rare disruptions to gene function. Here, we adapted a classical modifier screen to interrogate the alleles segregating in natural populations of Caenorhabditis elegans: we induced gene knockdowns and used quantitative genetic methodology to examine how segregating variants modify the penetrance of embryonic lethality. Each perturbation revealed CGV, indicating that wild-type genomes harbor myriad genetic modifiers that may have little effect individually but which in aggregate can dramatically influence penetrance. Phenotypes were mediated by many modifiers, indicating high polygenicity, but the alleles tend to act very specifically, indicating low pleiotropy. Our findings demonstrate the extent of conditional functionality in complex trait architecture.

Original languageEnglish (US)
Article numbere09178
JournaleLife
Volume4
Issue numberAUGUST2015
DOIs
StatePublished - Aug 22 2015

ASJC Scopus subject areas

  • Neuroscience(all)
  • Immunology and Microbiology(all)
  • Biochemistry, Genetics and Molecular Biology(all)

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