A cost-effective approach to DNA methylation detection by Methyl Sensitive DArT sequencing

PLoS One. 2020 Jun 4;15(6):e0233800. doi: 10.1371/journal.pone.0233800. eCollection 2020.

Abstract

Several studies suggest the relation of DNA methylation to diseases in humans and important phenotypes in plants drawing attention to this epigenetic mark as an important source of variability. In the last decades, several methodologies were developed to assess the methylation state of a genome. However, there is still a lack of affordable and precise methods for genome wide analysis in large sample size studies. Methyl sensitive double digestion MS-DArT sequencing method emerges as a promising alternative for methylation profiling. We developed a computational pipeline for the identification of DNA methylation using MS-DArT-seq data and carried out a pilot study using the Eucalyptus grandis tree sequenced for the species reference genome. Using a statistic framework as in differential expression analysis, 72,515 genomic sites were investigated and 5,846 methylated sites identified, several tissue specific, distributed along the species 11 chromosomes. We highlight a bias towards identification of DNA methylation in genic regions and the identification of 2,783 genes and 842 transposons containing methylated sites. Comparison with WGBS, DNA sequencing after treatment with bisulfite, data demonstrated a precision rate higher than 95% for our approach. The availability of a reference genome is useful for determining the genomic context of methylated sites but not imperative, making this approach suitable for any species. Our approach provides a cost effective, broad and reliable examination of DNA methylation profile on MspI/HpaII restriction sites, is fully reproducible and the source code is available on GitHub (https://github.com/wendelljpereira/ms-dart-seq).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Plant / genetics
  • Cost-Benefit Analysis*
  • DNA Methylation / genetics*
  • DNA Restriction Enzymes / genetics
  • DNA Transposable Elements / genetics
  • Eucalyptus / genetics*
  • Genes, Plant / genetics
  • Genotyping Techniques / economics
  • Genotyping Techniques / methods*
  • High-Throughput Nucleotide Sequencing / economics
  • High-Throughput Nucleotide Sequencing / methods*
  • Pilot Projects
  • Plant Leaves / genetics*
  • Reproducibility of Results
  • Restriction Mapping
  • Sequence Analysis, DNA / economics
  • Sequence Analysis, DNA / methods*
  • Sulfites / pharmacology
  • Trees / genetics*

Substances

  • DNA Transposable Elements
  • Sulfites
  • DNA Restriction Enzymes
  • hydrogen sulfite

Associated data

  • figshare/10.6084/m9.figshare.10305431

Grants and funding

Both the PhD scholarship for WJP, grant number: 140374/2016-7, and research funding, grant number: 404144/2013-6 (coordinated by DG), were provided by CNPq (Brazilian National Council for Scientific and Technological Development; http://www.cnpq.br/). Embrapa Genetic Resources and Biotechnology provided support in the form of salaries for authors MRP and DG. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.