The Encyclopedia of DNA Elements (ENCODE) collaboration was launched 17 years ago by the National Human Genome Research Institute with the goal of developing the tools and expertise needed to shed light on the 98% of our genome that does not code for proteins. Now in its final year, ENCODE has made huge advances thanks to the combined scientific and technological prowess of several hundred researchers at dozens of institutions. Leading the project for Berkeley Lab are Diane Dickel, Len Pennacchio, and Axel Visel, co-PIs of the Mammalian Functional Genomics Laboratory in Biosciences’ Environmental Genomics and Systems Biology (EGSB) Division. They are co-authors on 4 of the 15 new ENCODE papers published this week as part of a special collection in Nature.
Reorganized EGSB Structure Includes New Department, New Leadership
Environmental Genomics and Systems Biology (EGSB) Division Director N. Louise Glass has announced several changes to the organization and leadership of the division, effective May 1.
Deciphering the Impact of Non-coding Mutations in the Human Genome
The Mammalian Functional Genomics Laboratory in Biosciences’ Environmental Genomics and Systems Biology (EGSB) Division has developed a higher-throughput transgenic mouse assay to evaluate the disease-causing potential of human variants in enhancers that turn on gene expression during development. The new approach leverages the CRISPR-Cas9 genome editing technology to create transgenic mice that carry an enhancer-reporter construct at a specific “safe harbor” location in the mouse genome. Because the transgenes are integrated in the same location in the genome there are no position effects, so fewer mice are needed to get reproducible results. To demonstrate proof of principle, the researchers used the new method—which they dubbed enSERT (enhancer inSERTion)—to examine nearly a thousand variants of one of the most well-characterized human enhancers that is associated with polydactyly (extra fingers or toes).
Epic Research Endeavor Reveals Cause of Deadly Digestive Disease in Children
Berkeley Lab geneticist Len Pennacchio and his team helped a group of Israeli clinical researchers solve the mystery of a rare inherited disease that causes extreme, sometimes fatal, chronic diarrhea in children. The nearly decade-long investigation not only led to the discovery of a novel protein-coding gene that is critical for intestinal function, but also expanded our understanding of regulatory sequences in the human genome. The results were recently published in Nature.
Technique for Studying Gene Expression Takes Root in Plants
Researchers led by Diane Dickel have successfully adapted an open-source RNA analysis platform to study gene expression in individual plant cells. The method, called Drop-seq, was developed at Harvard Medical School in 2015 and had previously been used only in animal cells. Dickel and her colleagues at the DOE Joint Genome Institute (JGI) teamed up with researchers from UC Davis who had perfected a protoplasting technique for root tissue from Arabidopsis thaliana (mouse-ear cress). After preparing samples of more than 12,000 Arabidopsis root cells, the group was thrilled when the Drop-seq process went smoother than expected. Their results were published in Cell Reports.
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