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One gene, many tissues

The FANTOM project has published an exhaustive map of specificities in gene expression, revealing the first nucleotides of messenger RNA to identify where genes start synthesizing proteins. This study provides insights into how genes are regulated in different tissues, with implications for understanding diseases such as Parkinson's

New tool pinpoints genetic sources of disease

Researchers have developed a new tool that combines genetic and epigenetic data to identify the underlying causes of complex diseases. By analyzing overlapping patterns, scientists can pinpoint specific genetic variants linked to conditions such as cancer and metabolic disorders.

SourceJohns Hopkins Medicine·JournalAmerican Journal of Human Genetics·DateMar 20, 2014

Protein 'rescues' stuck cellular factories

Researchers at Johns Hopkins Medicine used a powerful data-crunching technique to understand how the protein Dom34 keeps defective genetic material from disrupting cellular functions. The study found that Dom34 'rescues' protein-making factories called ribosomes when they get stuck obeying defective genetic instructions.

SourceJohns Hopkins Medicine·JournalCell·DateMar 19, 2014

New risk gene illuminates Alzheimer's disease

A new gene has been isolated that plays a causal role in the development of Alzheimer's disease. The gene affects amyloid-beta protein accumulation, leading to brain damage and disease progression. This breakthrough could lead to new avenues for therapeutic design and early detection methods.

SourceSimon Fraser University·JournalProceedings of the National Academy of Sciences·DateFeb 24, 2014

Surprising culprit found in cell recycling defect

Scientists at Washington University School of Medicine have identified a rare genetic disease caused by the misplacement of a normal protein, phosphotransferase. The protein ends up in the lysosomes, causing a shortage of enzymes and leading to skeletal and heart abnormalities.

SourceWashU Medicine·JournalProceedings of the National Academy of Sciences·DateFeb 20, 2014

Who's patenting whose genome?

A new public resource, The Lens, brings transparency to gene patenting by analyzing over 120 million DNA sequences and 10 million protein sequences from global patent documents. Researchers can explore who has sought patents on genes and proteins in any organism, promoting a transparent and fair society.

SourceQueensland University of Technology·JournalNature Biotechnology·DateDec 6, 2013

Gene linked to common intellectual disability

Researchers have identified a genetic mutation leading to a reduction in proteins in the brain, causing intellectual disability. The study highlights the importance of unraveling the causes of these conditions, with potential implications for up to 3% of the population affected.

SourceUniversity of Adelaide·JournalHuman Molecular Genetics·DateNov 13, 2013

New knowledge about serious muscle disease

Researchers at the University of Copenhagen have made significant discoveries about muscular dystrophy, a collective term for neuromuscular disorders affecting 3,000 people in Denmark. The study found that proteins with attached sugar molecules, specifically mannose, play a key role in the disease's progression.

SourceUniversity of Copenhagen·JournalProceedings of the National Academy of Sciences·DateOct 31, 2013

Spider venom reveals new secret

University of Arizona researchers have discovered a new secret in spider venom, finding that the venom produces a different chemical product in the human body than previously thought. This discovery has implications for understanding how brown recluse spider bites affect humans and developing possible treatments.

SourceUniversity of Arizona·JournalPLOS ONE·DateAug 29, 2013

UTHealth, Swedish researchers uncover mystery in blood clotting disorder

Researchers from UTHealth and Lund University have discovered a genetic variant in the Factor V gene causing an abnormal form of the protein FV-Short, leading to excessive TFPI formation and uncontrolled bleeding. The study provides insight into the clotting process and offers potential treatment possibilities for the rare condition.

SourceUniversity of Texas Health Science Center at Houston·JournalJournal of Clinical Investigation·DateAug 27, 2013

A faster vessel for charting the brain

Researchers at Princeton University created enhanced proteins that respond quickly to changes in neuron activity, allowing for a more precise view of neuron signals. The new sensors can be customized to react to different rates of neuron activity, giving scientists a comprehensive understanding of brain-cell communication.

SourcePrinceton University·JournalNature Communications·DateJul 25, 2013

Fishing in the sea of proteins

For the first time, a large complex of proteins and RNA has been identified in chloroplasts, which cuts non-coding regions out of messenger RNA to create a protein blueprint. The study reveals that this splicing complex contains 23 different proteins encoded in the cell nucleus.

SourceRuhr-University Bochum·JournalMolecular & Cellular Proteomics·DateJul 2, 2013

When a gene is worth 2

A study led by Paula Duque discovered a gene ZIFL1 that encodes two proteins with different biological roles in plants. The researchers found that the gene's two proteins are involved in hormone transport and drought tolerance, challenging the long-held notion that each gene can only codify for one protein.

SourceInstituto Gulbenkian de Ciencia·JournalThe Plant Cell·DateMar 22, 2013

Cell on a chip reveals protein behavior

Researchers at the Weizmann Institute of Science created a two-dimensional cell-like system on a glass chip, enabling precise observation of gene expression and protein behavior. The system allows for the simultaneous production and trapping of multiple proteins, revealing a spectrum of protein activities.

SourceWeizmann Institute of Science·JournalNature Nanotechnology·DateMar 18, 2013

Reading the human genome

Researchers have achieved a major advance in understanding genetic information transcription from DNA to RNA, illuminating critical molecular interactions during the step-by-step process. The study provides new insights into how proteins work together to ensure accurate loading of DNA into Pol II at the start of a gene sequence.