A recent study from the University of Iowa found that nearly half of human DNA, composed of repetitive sequences like Alu elements, gives rise to functional exons that regulate gene expression. These findings suggest a link between 'junk' DNA and human-specific traits, such as muscle-related diseases.
SourceUniversity of Iowa·JournalPLOS Genetics·DateOct 16, 2008
Scientists used a transgenic system to monitor developmental regulated alternative mRNA splicing in live C. elegans worms, revealing conserved molecular mechanisms across metazoan evolution. The study enables experimental analysis of regulation mechanisms underlying alternative splicing patterns.
SourceCold Spring Harbor Laboratory·JournalGenes & Development·DateJan 28, 2008
A recent study has uncovered a link between genetic variation and extreme body mass, suggesting that synonymous SNPs may affect mRNA splicing. The findings imply that subtle changes in genes involved in metabolism could lead to visible phenotypes later in life.
SourceCold Spring Harbor Laboratory·JournalGenome Research·DateDec 20, 2007
Researchers at Vanderbilt University developed an RNA interference therapy that corrects a genetic disorder causing growth deficiency in mice. The therapy successfully restored normal growth and function to the pituitary gland, which produces growth hormone.
SourceVanderbilt University·JournalEndocrinology·DateDec 18, 2007
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A team of Cornell researchers has identified a previously unknown gene in fruit flies that appears to have been created from scratch around 13 million years ago. The new gene, called hydra, is functional and likely plays a role in late-stage sperm cell development.
SourceCornell University·JournalPLOS Genetics·DateJul 23, 2007
Researchers at CSHL have successfully corrected an mRNA splicing defect in SMA patients, using RNA splicing antisense technology. The therapy holds promise for treating the genetic disease, which causes progressive muscle weakness and respiratory failure.
SourceCold Spring Harbor Laboratory·JournalPLOS Biology·DateMar 12, 2007
Researchers have visualized alternative splicing in a living mammal, providing new insights into the genetic process that creates unique proteins. This discovery sheds light on how different tissues and organs produce varied proteins, which dictate their function, and may offer clues to diseases such as cancer.
SourceDuke University Medical Center·JournalRNA·DateNov 30, 2006
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Researchers found that a single genetic assay can predict response to different targeted therapies in gastrointestinal stromal tumors. Patients with exon 9 mutations or wild-type genes may benefit more from Sutent, while those with exon 11 mutations may require longer Gleevec treatment.
SourceAmerican Association for Cancer Research·DateSep 14, 2006
Genomatix has developed a new version of ChipInspector specifically for analyzing exon arrays, which promises to enhance transcript separation and promoter identification. The updated tool is expected to be released in Q2 2006 and will be an integral part of Genomatix's complete microarray analysis pipeline.
SourceGenomatix Software GmbH·JournalTrends in Genetics·DateJan 26, 2006
The new program predicts both protein sequences and untranslated regions, revealing novel insights into gene regulation. By identifying correct transcription start sites and spliced untranslated regions, scientists can better understand gene function and regulation.
SourceWashington University in St. Louis·JournalGenome Research·DateJul 12, 2005
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A new study has shed light on the process of alternative splicing, which allows one gene to produce multiple proteins. Researchers discovered that tandem repeats between exons are highly correlated with the process, enabling them to predict genes that can re-arrange and potentially leading to disease.
SourceUT Southwestern Medical Center·JournalBioinformatics·DateApr 14, 2005
A new technique developed by the University of Toronto team enables accurate measurements of individual exons that make up different mRNAs, opening doors to understanding more about some diseases. This process, known as alternative splicing, is a cellular process that acquires the ability to control genetic messages.
SourceUniversity of Toronto·JournalMolecular Cell·DateDec 21, 2004
Researchers have identified a novel form of the Rett syndrome protein, which is more abundant in human brain than previously thought. This discovery may provide insights into potential functional differences between the two proteins and help identify mutations in exon 1.
SourceRett Syndrome Research Foundation·JournalNucleic Acids Research·DateMar 22, 2004
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A new form of the MeCP2 protein has been discovered, which may be more important in causing Rett Syndrome. The protein is found to be more abundant in the brain and its function must be understood to relate it to the disease symptoms.
SourceRett Syndrome Research Foundation·JournalNature Genetics·DateMar 21, 2004
A recent study reveals that mutations in the FBN1 gene can cause Marfan syndrome by disrupting an exonic splicing enhancer, leading to exon skipping and compromised fibrillin protein activity. This understanding may help explain other human diseases associated with exon skipping.
SourceCold Spring Harbor Laboratory·JournalGenes & Development·DateJul 14, 2002
A new computer program, First Exon Finder, has been developed to detect overlooked gene segments in the human genome. The program identifies non-coding first exons, which are essential components of gene structure and function.
SourceCold Spring Harbor Laboratory·JournalNature Genetics·DateNov 28, 2001