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St. Jude Children's Research Hospital scientists have developed an integrated, high-throughput system to better understand and possibly manipulate gene expression to treat disorders such as sickle cell disease and beta-thalassemia. The research appears today in the journal Nature Genetics.
Researchers used the system to identify dozens of DNA regulatory elements that act together to orchestrate the switch from fetal to adult haemoglobin expression. The method can also be used to study other diseases that involve gene regulation. Regulatory elements, also called genetic switches, are scattered throughout non-coding regions of DNA. These regions do not encode genes and makeup about 98% of the genome. The elements have a variety of names enhancer, repressor, insulator and more -- but the specific genes they regulate, how the regulatory elements act together, and answers to other questions have been unclear. "Without the high-throughput system, identifying key regulatory elements is often extremely slow," said corresponding author Yong Cheng, Ph.D., of the St. Jude Departments of Hematology and Computational Biology. Mitchell Weiss, M.D., Ph.D., Hematology chair, is a co-corresponding author. "For example, despite decades of research, fewer than half of regulatory elements and the associated genetic variants that account for fetal hemoglobin levels have been identified," Cheng said. Precision editing provides key details about regulation of gene expression. (ANI)
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