Hierarchical clustering of breast cancer methylomes revealed differentially methylated and expressed breast cancer genes

PLoS One. 2015 Feb 23;10(2):e0118453. doi: 10.1371/journal.pone.0118453. eCollection 2015.

Abstract

Oncogenic transformation of normal cells often involves epigenetic alterations, including histone modification and DNA methylation. We conducted whole-genome bisulfite sequencing to determine the DNA methylomes of normal breast, fibroadenoma, invasive ductal carcinomas and MCF7. The emergence, disappearance, expansion and contraction of kilobase-sized hypomethylated regions (HMRs) and the hypomethylation of the megabase-sized partially methylated domains (PMDs) are the major forms of methylation changes observed in breast tumor samples. Hierarchical clustering of HMR revealed tumor-specific hypermethylated clusters and differential methylated enhancers specific to normal or breast cancer cell lines. Joint analysis of gene expression and DNA methylation data of normal breast and breast cancer cells identified differentially methylated and expressed genes associated with breast and/or ovarian cancers in cancer-specific HMR clusters. Furthermore, aberrant patterns of X-chromosome inactivation (XCI) was found in breast cancer cell lines as well as breast tumor samples in the TCGA BRCA (breast invasive carcinoma) dataset. They were characterized with differentially hypermethylated XIST promoter, reduced expression of XIST, and over-expression of hypomethylated X-linked genes. High expressions of these genes were significantly associated with lower survival rates in breast cancer patients. Comprehensive analysis of the normal and breast tumor methylomes suggests selective targeting of DNA methylation changes during breast cancer progression. The weak causal relationship between DNA methylation and gene expression observed in this study is evident of more complex role of DNA methylation in the regulation of gene expression in human epigenetics that deserves further investigation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics*
  • DNA Methylation*
  • Female
  • Genes, Neoplasm*
  • Humans
  • Multigene Family*
  • Promoter Regions, Genetic
  • X Chromosome Inactivation

Grants and funding

This work was supported by Aim for the Top University Plan from the Ministry of Education, Taiwan. The authors acknowledge the High-throughput Genome Analysis Core Facility of National Core Facility Program for Biotechnology, Taiwan (NSC 102-2319-B-010-001), for their sequencing services. The authors also thank the National Research Program for Biopharmaceuticals, Taiwan (NSC 102-2325-B-492-001) and National Center for High-performance Computing of National Applied Research Laboratories, Taiwan for providing computational and storage resources. The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript.