Natural epigenetic polymorphisms lead to intraspecific variation in Arabidopsis gene imprinting

  1. Daniela Pignatta
  2. Robert M Erdmann
  3. Elias Scheer
  4. Colette L Picard
  5. George W Bell
  6. Mary Gehring  Is a corresponding author
  1. Whitehead Institute for Biomedical Research, United States

Abstract

Imprinted gene expression occurs during seed development in plants and is associated with differential DNA methylation of parental alleles, particularly at proximal transposable elements (TEs). Imprinting variability could contribute to observed parent-of-origin effects on seed development. We investigated intraspecific variation in imprinting, coupled with analysis of DNA methylation and small RNAs, among three Arabidopsis strains with diverse seed phenotypes. The majority of imprinted genes were parentally biased in the same manner among all strains. However, we identified several examples of allele-specific imprinting correlated with intraspecific epigenetic variation at a TE. We successfully predicted imprinting in additional strains based on methylation variability. We conclude that there is standing variation in imprinting even in recently diverged genotypes due to intraspecific epiallelic variation. Our data demonstrate that epiallelic variation and genomic imprinting intersect to produce novel gene expression patterns in seeds.

Article and author information

Author details

  1. Daniela Pignatta

    Whitehead Institute for Biomedical Research, Cambridge, United States
    Competing interests
    The authors declare that no competing interests exist.
  2. Robert M Erdmann

    Whitehead Institute for Biomedical Research, Cambridge, United States
    Competing interests
    The authors declare that no competing interests exist.
  3. Elias Scheer

    Whitehead Institute for Biomedical Research, Cambridge, United States
    Competing interests
    The authors declare that no competing interests exist.
  4. Colette L Picard

    Whitehead Institute for Biomedical Research, Cambridge, United States
    Competing interests
    The authors declare that no competing interests exist.
  5. George W Bell

    Whitehead Institute for Biomedical Research, Cambridge, United States
    Competing interests
    The authors declare that no competing interests exist.
  6. Mary Gehring

    Whitehead Institute for Biomedical Research, Cambridge, United States
    For correspondence
    mgehring@wi.mit.edu
    Competing interests
    The authors declare that no competing interests exist.

Reviewing Editor

  1. Detlef Weigel, Max Planck Institute for Developmental Biology, Germany

Version history

  1. Received: April 25, 2014
  2. Accepted: July 2, 2014
  3. Accepted Manuscript published: July 3, 2014 (version 1)
  4. Version of Record published: August 5, 2014 (version 2)
  5. Version of Record updated: April 7, 2017 (version 3)
  6. Version of Record updated: June 6, 2017 (version 4)

Copyright

© 2014, Pignatta et al.

This article is distributed under the terms of the Creative Commons Attribution License permitting unrestricted use and redistribution provided that the original author and source are credited.

Metrics

  • 7,033
    views
  • 891
    downloads
  • 158
    citations

Views, downloads and citations are aggregated across all versions of this paper published by eLife.

Download links

A two-part list of links to download the article, or parts of the article, in various formats.

Downloads (link to download the article as PDF)

Open citations (links to open the citations from this article in various online reference manager services)

Cite this article (links to download the citations from this article in formats compatible with various reference manager tools)

  1. Daniela Pignatta
  2. Robert M Erdmann
  3. Elias Scheer
  4. Colette L Picard
  5. George W Bell
  6. Mary Gehring
(2014)
Natural epigenetic polymorphisms lead to intraspecific variation in Arabidopsis gene imprinting
eLife 3:e03198.
https://doi.org/10.7554/eLife.03198

Share this article

https://doi.org/10.7554/eLife.03198

Further reading

    1. Genetics and Genomics
    Samuel Pattillo Smith, Gregory Darnell ... Lorin Crawford
    Research Article

    LD score regression (LDSC) is a method to estimate narrow-sense heritability from genome-wide association study (GWAS) summary statistics alone, making it a fast and popular approach. In this work, we present interaction-LD score (i-LDSC) regression: an extension of the original LDSC framework that accounts for interactions between genetic variants. By studying a wide range of generative models in simulations, and by re-analyzing 25 well-studied quantitative phenotypes from 349,468 individuals in the UK Biobank and up to 159,095 individuals in BioBank Japan, we show that the inclusion of a cis-interaction score (i.e. interactions between a focal variant and proximal variants) recovers genetic variance that is not captured by LDSC. For each of the 25 traits analyzed in the UK Biobank and BioBank Japan, i-LDSC detects additional variation contributed by genetic interactions. The i-LDSC software and its application to these biobanks represent a step towards resolving further genetic contributions of sources of non-additive genetic effects to complex trait variation.