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A team of Whitehead Institute scientists has discovered the surprising manner in which an enigmatic protein known as SUUR acts to control gene copy number during DNA replication. It’s a finding that could shed new light on the formation of fragile genomic regions associated with chromosomal abnormalities.  

Scientists have long theorized that the way in which the roughly three meters of DNA in a human cell is packaged to fit within a nuclear space just six microns wide, affects gene expression. Now, Whitehead Institute researchers present the first evidence that DNA structure does indeed have such effects—in this case finding a link between chromosome structure and the expression and repression of key genes.

Cells rely on the mechanistic target of rapamycin complex 1 (mTORC1) pathway—which senses the availability of nutrients—to coordinate their growth with existing environmental conditions. The lab of Whitehead Member David Sabatini has identified a family of proteins that negatively regulate the branch upstream of mTORC1 that senses amino acids, the building blocks of proteins.

Deploying sophisticated high-throughput sequencing technology, dubbed ψ-seq, a team of Whitehead Institute and Broad Institute researchers collaborated on a comprehensive, high-resolution mapping of ψ sites that confirms pseudouridylation, the most common post-transcriptional modification, does indeed occur naturally in mRNA.

Induced pluripotent stem cells (iPSCs) may hold the potential to cure damaged nerves, regrow limbs and organs, and perfectly model a patient’s particular disease. Yet these cells can acquire serious genetic and epigenetic abnormalities that lower the cells’ quality and limit their therapeutic usefulness. Now Whitehead Institute researchers have identified a cocktail of reprogramming factors that produces very high quality iPSCs.

Embryonic stem cell (ESC) research has been hampered by the inability to transfer research and tools from mouse ESC studies to their human counterparts, in part because human ESCs are “primed” and slightly less plastic than the mouse cells. Now researchers in the lab of Whitehead Institute Founding Member Rudolf Jaenisch have discovered how to manipulate and maintain human ESCs into a “naïve” or base pluripotent state similar to that of mouse ESCs without the use of any reprogramming factors.