Wild worm embryogenesis harbors ubiquitous polygenic modifier variation

Wild worm embryogenesis harbors ubiquitous polygenic modifier variation

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...

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Main Authors: Paaby, Annalise B, White, Amelia G, Riccardi, David D, Gunsalus, Kristin C, Piano, Fabio, Rockman, Matthew V
Format: Online
Language:English
Published: eLife Sciences Publications, Ltd 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4569889/
id pubmed-4569889
recordtype oai_dc
spelling pubmed-45698892015-09-17 Wild worm embryogenesis harbors ubiquitous polygenic modifier variation Paaby, Annalise B White, Amelia G Riccardi, David D Gunsalus, Kristin C Piano, Fabio Rockman, Matthew V Genomics and Evolutionary Biology 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. eLife Sciences Publications, Ltd 2015-08-22 /pmc/articles/PMC4569889/ /pubmed/26297805 http://dx.doi.org/10.7554/eLife.09178 Text en © 2015, Paaby et al http://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use and redistribution provided that the original author and source are credited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Paaby, Annalise B
White, Amelia G
Riccardi, David D
Gunsalus, Kristin C
Piano, Fabio
Rockman, Matthew V
spellingShingle Paaby, Annalise B
White, Amelia G
Riccardi, David D
Gunsalus, Kristin C
Piano, Fabio
Rockman, Matthew V
Wild worm embryogenesis harbors ubiquitous polygenic modifier variation
author_facet Paaby, Annalise B
White, Amelia G
Riccardi, David D
Gunsalus, Kristin C
Piano, Fabio
Rockman, Matthew V
author_sort Paaby, Annalise B
title Wild worm embryogenesis harbors ubiquitous polygenic modifier variation
title_short Wild worm embryogenesis harbors ubiquitous polygenic modifier variation
title_full Wild worm embryogenesis harbors ubiquitous polygenic modifier variation
title_fullStr Wild worm embryogenesis harbors ubiquitous polygenic modifier variation
title_full_unstemmed Wild worm embryogenesis harbors ubiquitous polygenic modifier variation
title_sort wild worm embryogenesis harbors ubiquitous polygenic modifier variation
description 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.
publisher eLife Sciences Publications, Ltd
publishDate 2015
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4569889/
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