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Scientists Discover Hidden Instructions Set in Genetic Code


As you know, our genome contains instructions guiding nearly every biologic function our body undertakes.  With the proliferation of data-sharing and geno-phenotype comparisons, many genomic mutations have already been linked to extremely specific physiologic functions, generally controlling protein shape and function.  These mutations have led to advances in clinical science, as researchers investigate how to exploit common protein pathway mutations to treat diseases, including Alzheimer’s, many types of cancer, and AIDS.  What remains less understood, however, is the mechanism that instructs cells on how to control genes, though we know the process has something to do with the alternative splicing of different introns and exons (introns are the portion of DNA that is cut out of RNA sequences. Cells include different exon sequences at different times, but no one knows why.)  Scientists led by Dr. John Stamatoyannopoulos, at the University of Washington believe they have found an answer.

In the December 13th publication of Science, Dr. Stamatoyannopoulos’ and his team proposes that in addition to the obvious DNA sequence and its polymorphisms leading to differences in RNA transcription and protein translation, there is a second, hidden code instructing cells as to which exons to splice in and out.  This code is written on a larger scale, over a series of codons (3 base pair sequences) that the team terms duons.  Currently, no one is reading the genome on a meta-level, looking for repeated duon sequences that may hold the key to the expression of genomic function.  But that is likely to change; if this second language holds the key to gene expression, it could be the missing piece to understanding disease (including the changes in function viruses cause, when they alter host DNA through reverse transcriptase) and how to treat patients.