Regulatory genetic sequences in cetaceans may help combat cancer.

Scientists from Brazil's University of Campinas Institute of Biology recently looked into a specific genetic sequence found within whales that confirmed evolutionary relationships amongst different species.  Whales fall into two general groups, which are baleen whales (mysticeti) and toothed whales (odonceti).  Baleen whales tend to be massive like the blue whale while toothed whales tend be on the smaller side like dolphins.  The researchers found that the promoter region of the gene NCAPG plays an important role in coding for proteins that allow cetaceans to grow to massive sizes.  The proteins are more active in larger whales while less active in smaller whales.  It confirmed why a species such as the sperm whale, which has teeth, is closely related to similarly giant baleen whales that lack teeth.

The researchers also speculated that this gene could have a role in stopping the proliferation of cancer cells.  Cetaceans, although being animals with many cells, surprisingly don't get cancer as frequently as humans do.  Humans happen to have these genes that the whales have.  So, if it can be determined that these genes have a role in regulating tumor formation in whales, this knowledge can be applied to cancer treatment in humans.

This article is interesting in how what the researchers basically confirmed evolutionary relationships amongst whales.  Again using the example of the sperm whale, tooth whales usually don't get to the size of the sperm whale.  However the information found about the NCAPG gene confirms sperm whales are closely related to baleen whales despite falling into a different category.  The article seems to be a little click-baity in regards to the gene being applied to cancer treatment.  This is because the researchers hadn't found anything about how the gene prevents tumors, they were just speculating about it.  But, it would be exciting if it were discovered that the gene does in fact prevent cancer.

 Article Link: https://www.sciencealert.com/the-genetic-secret-of-giant-ocean-creatures-is-finally-revealed

Additional info on Promoters in Genes: https://www.genome.gov/genetics-glossary/Promoter

New Genetic Link to Erectile Dysfunction

 

     For the first time, scientists have linked erectile dysfunction to genetics. As most of us know, erectile dysfunction is the inability to maintain an erection for men, and usually becomes more common as men age. Other health factors can also contribute to erectile dysfunction such as weight, tobacco use, and drug/alcohol use. It has been hard to produce effective treatments for erectile dysfunction due to the diversity and uniqueness of each case. There are current medications for erectile dysfunction, most are oral pills that increase blood flow and the increased blood flow helps erections. However, most of these medications have had limited success and effectiveness varies greatly from case to case.

     Previously, scientists have suspected that genetics play a role in erectile dysfunction but have failed to find a direct gene location as a cause until recently. For the first time, in a large study involving over 200,000 men that reported having erectile dysfunction, scientists have found a gene near the SIM1 gene that shows significant linkage to erectile dysfunction. They found that variations at this locus showed over a 25% increased risk in developing erectile dysfunction. The team was also able to understand how the SIM1 gene interaction works. They know that the SIM1 gene is a part of a signal pathway that contributes to sexual function and body weight and that the erectile dysfunction locus is in very close proximity to the SIM1 gene. The team found that variations at the erectile dysfunction locus affected the enhancer of the SIM1 gene, interacting with the promoter for the gene. Therefore, it is likely that the erectile dysfunction locus affects the expression of the SIM1 gene, which affects developing erectile dysfunction.

     This discovery seems like a big accomplishment in genetics and for doctors that deal with this field. Having linked a single gene to erectile dysfunction is promising because then scientists can start researching genetic therapies to cure this. Now that a genetic cause has been identified, hopefully, if genetic treatments are used the rate of success increases. It will be interesting to see the future research in this area, and if they are able to design types of genetic therapies, as well as if they are able to possibly find other genes linked to erectile dysfunction.

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Transcription Promoter Shape and Gene Expression

         

          Recent research published in the Journal Nature Genetics looked into the effects of promoter shape on promoter evolution and expression noise in animals. As covered in class, a promoter is a portion of DNA at which the process of transcription is initiated. Promoters can fall into two categories, broad or narrow. These categories are what is referred to as the promoter "shape". The published findings indicated that promoter shape not only varies across species but also within individual populations. The model organism used in the study was our old friend Drosophila.
          The function of differing promoter shape is not fully understood but the researchers were able to show that shape did not directly relate to transcription levels. Results also indicated that expression noise may play a role in the evolution of promoters. I found a short article here that gives a quick overview of gene expression noise for those interested. Overall this research is important in broadening our understanding of the complex interactions that lead to gene expression at a cellular level.

Gene study compiles catalog of biomarkers for multiple cancers

Cancer Research published a study that identified over 120 biomarkers, or gene alterations, specific to many different forms of cancer. This study, which used two different data sets, was helpful in that it provided a beginning for identifying biomarkers in cancerous cells. The identification of these biomarkers could help early detection in the future. In specific, upregulated genes were studied, which are genes that are more often expressed in cancerous cells than in healthy cells, leading to the production of more protein and enzymes specific to those highly expressed genes.

TOP2A and MK167 were two examples of recognized biomarkers, while REP522 was found to be upregulated in many cancers, or has been increased. Both TCGA data, which was composed of different types of cells from tumor data, and FANTOM 5 CAGE data, which utilized cells grown in culture, were studied to observe changes present in both data sets. The most significant connection was finding biomarkers common to both sets of data.

It would be helpful to continue similar studies by taking additional data, perhaps from hospitals or cells grown in culture, and comparing it to the biomarkers discovered in this study. If many other studies reported the same findings, it is extremely likely that technology can be developed to detect such gene alterations and possibly develop drugs that could target those biomarkers.

Engineers Gain Control of Gene Activity

Charles Gersbach

Researchers at Duke University in North Carolina have developed a new technology to manipulate proteins that package our DNA, and by doing so are able to turn on specific gene promoters and enhancers - DNA sequences that influence the activity of their corresponding genes. The ability to do this allows for control of gene activity. The combination of all molecules responsible for the activity of genes in the genome is known as the epigenome, and is the main subject of attention for this current research. The ability to alter the actions of the epigenome allows researchers to see what roles the promoters and enhancers play in many biological contexts, including cell fate, risk of diseases, and stem cell research.

Assistant professor of biostatistics and bioinformatics at Duke University Timothy Reddy teamed up with Charles Gersbach to modify the previously established system called CRISPR to alter DNA packaging at specific sites. This process allowed not only for activation of gene promoters but also for the activation of adjacent genes. The developed method has worked better at accomplishing this task than other methods previously tried.

The true benefit to this research is the effect it may have on understanding and diagnosing modern day diseases such as neurodegenerative conditions and cancer. Many diseases are quite complex genetically, as there may be many enhancers and/or promoters that affect the activation of genes that cause the expression of a disease. Being able to isolate these enhancers and promoters in the epigenome may provide paramount insight into the treatment of modern diseases.