According to the June 17 edition of the Nature Structural & Molecular Biology, studies which were held at Brown University provided new insights into how human body transcribes the DNA and splices into instructions for making proteins. Lariats are lasso-shaped genetic snippets which are the by-products of gene transcription. Before this study, scientists used to pore over small sections of introns to find lariats (introns are sections of genetic code which do not code for proteins, directing the way protein coding is gathered). The study found out more lariats than ever before, helping yield more information on how splicing takes place. By use of modern genome methods, the researchers were able to detect “rare intermediates of splicing at a genome scale found in living cells”, otherwise known as RNA splicing. According to Allison Taggart, enzymes assemble exons by cutting away the introns and form proteins, and the body has a choice of ways to make these cuts. Data in the lariats falls after the splice, hence the missing information as they predict the body’s splicing choices.
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Taggart asserts that the location of “branchpoints” (the place where lariats close to organize a loop during splicing) on the lariats which has been missing is then uncovered. The researchers were able to create an algorithmic model in order to predict splice sites 95.6% of the time. This shows that scientists have found out how our bodies choose amongst alternative splicing sites.
While studying the bond between the branchpoints and disease, the researchers found out that mutations relate to the branchpoints. They noted that mutations are formed at branchpoints causing aberrant splicing as they interfere with formation of lariats. Fairbrother, one of the researchers, summed it, saying that mutations at the branchpoints are the cause of diseases.