Gaining a Deeper Understanding of the Relationship Between DNA and Cell Function

Have you ever wondered how different cells in the human body do different jobs when every cell contains the entire 6.5 foot, 20,000 gene strand of DNA? A recent study from researchers at the Weatherall Institute of Molecular Medicine, the details of which are published in the journal Nature Cell Biology, have uncovered a key to understanding this question which has puzzled scientists for some time.

A strand of DNA is not full of genes alone and little is understood about the function of the parts in-between. Some parts are known to be enhancers, which activate or deactivate the relevant genes required by the cells but we still don’t know how the enhancers know which ones these are.

Inside our cells, DNA is compactly folded in a specific and organized way, allowing the enhancers access to the part of DNA needed for cell function. This organization is clustered in sections called domains, where each domain is responsible for a specific function. Previous research has singled out the protein responsible for this organization as CTCF. The new study focuses on CTCF and its role in the domain which governs a-globin genes, those that regulate the production of hemoglobin.

When functioning correctly, CTCF defined and organized the domains of the DNA in a red blood cell correctly so that the enhancers had appropriate access to the a-globin parts as needed. However, when parts of DNA were removed so that CTCF function was limited, researchers found that the domain boundaries became less pronounced and the gene enhancers activated more than the a-globin genes needed for proper red blood cell function.

This research not only deepens our understanding of the function of DNA in our cell function but also illuminates possible reasons for the malfunction of genes in a number of diseases. This new understanding of the role of CTCF offers a new area of exploration for possible treatments.

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