Latest Exon Stories

University of North Carolina Health Care Research findings from the University of North Carolina School of Medicine are shining a light on an important regulatory role performed by the so-called dark matter, or "junk DNA," within each of our genes. The new study reveals snippets of information contained in dark matter that can alter the way a gene is assembled. "These small sequences of genetic information tell the gene how to splice, either by enhancing the splicing process or...

Targeted 'negative ASOs' cause missplicing and pathogenesis, providing unique window on disease progression A team led by scientists at Cold Spring Harbor Laboratory (CSHL) has developed a new way of making animal models for a broad class of human genetic diseases – those with pathology caused by errors in the splicing of RNA messages copied from genes. To date, about 6,000 such RNA "editing" errors have been found in various human illnesses, ranging from neurodegenerative disorders to...

Tiny, transient loops of genetic material, detected and studied by the hundreds for the first time at Brown University, are providing new insights into how the body transcribes DNA and splices (or missplices) those transcripts into the instructions needed for making proteins. The lasso-shaped genetic snippets — they are called lariats — that the Brown team reports studying in the June 17 edition of Nature Structural & Molecular Biology are byproducts of gene transcription. Until...

Discovery alters prevailing view of splicing regulation and has implications for splicing mutations associated with disease There are always exceptions to a rule, even one that has prevailed for more than three decades, as demonstrated by a Cold Spring Harbor Laboratory (CSHL) study on RNA splicing, a cellular editing process. The rule-flaunting exception uncovered by the study concerns the way in which a newly produced RNA molecule is cut and pasted at precise locations called splice...

How the protein U2AF builds mRNA for protein productionScientists at the Technical University of Munich and the Helmholtz Zentrum Muenchen and along with their colleagues from the European Molecular Biology Laboratory (EMBL) in Heidelberg and the Centre for Genomic Regulation in Barcelona have discovered how the U2AF protein enables the pre-mRNA* to be spliced to form the mRNA*, which serves as a template for protein synthesis in the body.Splicing requires the cooperation of different...

Many more hereditary diseases than previously thought may be caused, at least in part, by errors in pre-mRNA splicing, according to a computer analysis by Brown University scientists. That could be good news because research suggests it may be possible to fix bad splicing.A new Brown University computer analysis that predicts the effect of genetic mutations on how the body splices mRNA indicates as many as a third of disease-related mutations may be linked to splicing problems "” more than...

Part of the answer to how and why primates differ from other mammals, and humans differ from other primates, may lie in the repetitive stretches of the genome that were once considered "junk."A new study by researchers at the University of Iowa Carver College of Medicine finds that when a particular type of repetitive DNA segment, known as an Alu element, is inserted into existing genes, they can alter the rate at which proteins are produced -- a mechanism that could contribute to...

Antisense oligonucleotides delivered into spinal cords of adult and neonatal mice provide a long term rescue from disease symptomsThe devastating, currently incurable motor-neuron disease spinal muscular atrophy (SMA) might soon be treated with tiny, chemically modified pieces of RNA called antisense oligonucleotides (ASOs).Scientists at Cold Spring Harbor Laboratory (CSHL) and California-based Isis Pharmaceuticals have succeeded in reversing symptoms of Type III SMA, a relatively mild form...

Like a film director cutting out extraneous footage to create a blockbuster, the cellular machine called the spliceosome snips out unwanted stretches of genetic material and joins the remaining pieces to fashion a template for protein production.But more than box office revenues are at stake: if the spliceosome makes a careless cut, disease likely results.Using a new approach to studying the spliceosome, a team led by University of Michigan chemistry and biophysics professor Nils Walter,...

STANFORD, Calif. "” Like homing in to an elusive radio frequency in a busy city, human embryonic stem cells must sort through a seemingly endless number of options to settle on the specific genetic message, or station, that instructs them to become more-specialized cells in the body (Easy Listening, maybe, for skin cells, and Techno for neurons?). Now researchers at the Stanford University School of Medicine have shown that this tuning process is accomplished in part by restricting the...