Ahituv study provides new insights into enhancer gene regulation

Research led by UCSF scientists has provided fresh insight into the operation of DNA sequences in the genome that regulate gene expression.

The new study looked at the effects of inserting nearly 5,000 synthetic regulatory element sequences into mice as well as human liver cells. Specifically, these were enhancers, snippets of DNA which, when bound by protein molecules called transcription factors, contribute to gene activation.

“Our work suggests a framework for the design of synthetic, tissue-specific DNA that could be used to control gene activation,” says Nadav Ahituv, PhD, senior scientist on the study and a faculty member in the Department of Bioengineering and Therapeutic Sciences, a joint department of the UCSF Schools of Pharmacy and Medicine.

Such synthetic regulatory elements could play future roles in gene therapy and in guiding stem cell development for regenerative therapy. Meanwhile, their experimental use helped reveal how changes in specific enhancer DNA sequences result in different levels of gene activity. Mutations in enhancers have been linked to numerous birth defects, cancer, and other human diseases.

The study led by Ahituv’s lab was published online in the journal Nature Genetics on July 28 and will appear in the September print edition.


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