Tag: Genetics + Genomics

Blocking a fork in the road to DNA replication

October 30, 2014

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.  

Detailed depiction of the structure of the mouse Y chromosome

What’s mighty about the mouse? For starters, its massive Y chromosome

October 30, 2014

An exhaustive effort to sequence the mouse Y chromosome reveals a surprisingly large and complex biological beast, at the same time providing remarkable insight into a heated battle for supremacy between mammalian sex chromosomes.

Diagrams of DNA "goody bags"

Special chromosomal structures control key genes

October 7, 2014

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.

Diagram of pseudouridylation of mRNA

Scientists discover RNA modifications in some unexpected places

September 15, 2014

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.

Images of cells with normal and abnormal CENP-A deposition

Faithful cell division requires tightly controlled protein placement at the centromeres

July 17, 2014

The protein CENP-A, which is integrated into human DNA at the centromere on each chromosome, has a vital role in cell division. Work from Whitehead Institute Member Iain Cheeseman’s lab describes how the vital and tightly controlled replenishment of CENP-A progresses.

Human red blood cells supported on a glass slide.

Engineered red blood cells could carry precious therapeutic cargo

June 30, 2014

Whitehead Institute scientists have genetically and enzymatically modified red blood cells to carry a range of valuable payloads—from drugs, to vaccines, to imaging agents—for delivery to specific sites throughout the body.

Graphic summary

Lost in translation? Not when it comes to control of gene expression during Drosophila development

May 29, 2014

The lab of Whitehead Member Terry Orr-Weaver has conducted perhaps the most comprehensive look yet at changes in translation and protein synthesis during a developmental change, using the oocyte-to-embryo transition in Drosophila as a model system. One of the insights from this research is that a surprisingly large number of mRNAs that are translationally regulated.

Image of cells affected and unaffected by NPC gene mutation

Combination therapy a potential strategy for treating Niemann-Pick disease

May 15, 2014

Whitehead Institute researchers have identified a potential dual-pronged approach to treating Niemann-Pick type C (NPC) disease, a rare but devastating genetic disorder. By studying nerve and liver cells grown from NPC patient-derived induced pluripotent stem cells (iPSCs), the scientists determined that although cholesterol does accumulate abnormally in the cells of NPC patients, a more significant problem may be defective autophagy—a basic cellular function that degrades and recycles unneeded or faulty molecules, components, or organelles in a cell. Here, the scientists propose two drugs, one to reduce cholesterol buildup and the other to induce autophagy, as a strategy for treating NPC.

Photo of girl with hemifacial microsomia (HFM)

Scientists find gene behind a highly prevalent facial anomaly

May 9, 2014

Whitehead Institute scientists have identified a genetic cause of a facial disorder known as hemifacial microsomia (HFM). The researchers find that duplication of the gene OTX2 induces HFM, the second-most common facial anomaly after cleft lip and palate.

From liability to viability: Genes on the Y chromosome prove essential for male survival

April 23, 2014

The human Y chromosome has over the course of millions of years of evolution managed to preserve a small set of genes that has ensured not only its own survival but also the survival of men. Moreover, the vast majority of these tenacious genes appear to have little if any role in sex determination or sperm production. Taken together, these remarkable finding suggest that because these Y-linked genes are active across the body, they may actually be contributing to differences in disease susceptibility and severity observed between men and women.

Schematic of how interrupting ATPIF1 rescues cells with mitochondrial dysfunction

Scientists find potential target for treating mitochondrial disorders

March 27, 2014

Mitochondria, long known as “cellular power plants” for their generation of the key energy source adenosine triphosphate (ATP), are essential for proper cellular functions. Mitochondrial defects are often observed in a variety of diseases, including cancer, Alzheimer’s disease, and Parkinson’s disease, and are the hallmarks of a number of untreatable genetic mitochondrial disorders whose manifestations range from muscle weakness to organ failure. Whitehead Institute scientists have identified a protein whose inhibition could hold the key to alleviating suffering caused by such disorders.

Diagram of the Nutrostat machine

How diabetes drugs may work against cancer

March 16, 2014

Scientists at Whitehead Institute have pinpointed a major mitochondrial pathway that imbues cancer cells with the ability to survive in low-glucose environments. By identifying cancer cells with defects in this pathway or with impaired glucose utilization, the scientists can predict which tumors will be sensitive to these anti-diabetic drugs known to inhibit this pathway.

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