This article has been reviewed according to Science X's editorial process and policies. Editors have highlighted the following attributes while ensuring the content's credibility: A new experimental procedure developed by researchers at Yale School of Medicine could help scientists better understand how DNA structure influences disease and development. DNA underpins nearly all cellular functions.
Which genes a cell uses depends on the structure of DNA in the nucleus—shaped by both DNA's three-dimensional (3D) folding and the chemical modifications to DNA and its associated proteins called epigenetic marks. Understanding the relationship between the 3D genome and epigenetics has implications for DNA function and disease. However, most methods struggle to combine these two factors.
Now, a new method published in Nature Methods provides an unparalleled look at the interactions between these two aspects of DNA structure by providing a high-resolution profile of epigenetic marks and the 3D genome in single cells. This new procedure, dubbed Epi-PHR, "offers unprecedented capacity for people that have specific questions about particular genes of interest," says Siyuan "Steven" Wang, Ph.D., associate professor of genetics at Yale School of Medicine. The method could one day help researchers develop better treatments for genetic conditions.
All cells in an organism share the same DNA. However, cells don't need all this genetic information at once. Cells pack most of their DNA by wrapping the long molecules around proteins called histones and folding DNA with histones into higher-order 3D structures, while keeping necessary genes accessible for action.
Epigenetic marks—a collection of chemical modifications on histones and DNA that can turn genes on and off—further control what DNA a cell can access. The epigenetic profile and 3D folding of DNA collectively shape what genetic information a cell uses and how that cell functions. "The epigenome and 3D genome affect essentially all genomic functions," including, for example, transcription, DNA replication and DNA damage repair, explains Wang.
This can have major implications for disease. For instance, epigenetic changes appear to be behind many cancers and developmental diseases. Researchers have "a long-standing need to study the 3D genome together with the epigenome," Wang says.
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