Email updates

Keep up to date with the latest news and content from BMC Genomics and BioMed Central.

Open Access Highly Accessed Research article

Role of CpG deserts in the epigenetic transgenerational inheritance of differential DNA methylation regions

Michael K Skinner* and Carlos Guerrero-Bosagna

Author Affiliations

Center for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA 99164-4236, USA

For all author emails, please log on.

BMC Genomics 2014, 15:692  doi:10.1186/1471-2164-15-692

Published: 20 August 2014



Previously a variety of environmental toxicants were found to promote the epigenetic transgenerational inheritance of disease through differential DNA methylation regions (DMRs), termed epimutations, present in sperm. The transgenerational epimutations in sperm and somatic cells identified in a number of previous studies were further investigated.


The epimutations from six different environmental exposures were found to be predominantly exposure specific with negligible overlap. The current report describes a major genomic feature of all the unique epimutations identified (535) as a very low (<10 CpG/100 bp) CpG density in sperm and somatic cells associated with transgenerational disease. The genomic locations of these epimutations were found to contain DMRs with small clusters of CpG within a general region of very low density CpG. The potential role of these epimutations on gene expression is suggested to be important.


Observations suggest a potential regulatory role for lower density CpG regions termed “CpG deserts”. The potential evolutionary origins of these regions is also discussed.

CpG density; DNA methylation; Transgenerational; Genomic feature; CpG desert