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UTHealth discoveries shed more light on deadly thoracic aortic disease

Researchers at UTHealth have identified a fifth gene defect associated with thoracic aortic disease, as well as 47 DNA regions linked to the condition. The findings offer new insights into the role of smooth muscle cells in contracting the aorta and provide potential avenues for blocking or reversing the disease.

SourceUniversity of Texas Health Science Center at Houston·JournalAmerican Journal of Human Genetics·DateNov 18, 2010

Small molecule inhibits pathology associated with myotonic dystrophy type 1

Researchers at the University of Illinois have designed a small molecule that blocks an aberrant pathway associated with myotonic dystrophy type 1. The new compound, Ligand 1, binds tightly to its target, preventing the MBNL protein from binding to RNA and easing symptoms of the disease.

SourceUniversity of Illinois at Urbana-Champaign, News Bureau·JournalProceedings of the National Academy of Sciences·DateSep 7, 2009

Scientists discover genetic defects linked with rare bearded lady

Scientists have identified genetic mutations on chromosome 17q24.2-q24.3 as responsible for Congenital Generalized Hypertrichosis Terminalis (CGHT), a rare condition characterized by excessive hair growth and facial distortion. The discovery provides new insight into the molecular mechanisms underlying this condition.

SourceCell Press·JournalAmerican Journal of Human Genetics·DateMay 21, 2009

When every photon counts

Researchers found that nocturnal mammals have an inverted chromatin arrangement in their rod nuclei, which acts as micro-lenses to focus light. This unique organization enhances night vision and provides new insights into the evolution of mammalian retinas.

SourceMax-Planck-Gesellschaft·JournalCell·DateApr 20, 2009

Scientists shed light on evolution of gene regulation

Researchers at Penn State have discovered that not all DNA segments bound to the GATA1 protein are conserved across mammals, challenging previous assumptions. They found that 45% of these segments retain their identical form in other species, suggesting purifying selection maintains most regulatory regions.

SourcePenn State·JournalGenome Research·DateNov 24, 2008

Evolution of an imprinted domain in mammals

A new study investigates the evolution of genomic imprinting in mammals, finding that different regions became imprinted at different times during mammalian evolution. This suggests that changes were in response to selection pressures and are adaptive.

SourcePLOS·JournalPLOS Biology·DateJun 2, 2008

Too many gene copies stimulate tumor cell growth

Researchers discovered that duplicated regions of DNA containing the BRAF gene lead to increased tumor growth. Targeting the MAPK pathway, which is downstream of BRAF, may provide a new approach for treating individuals with low-grade astrocytomas.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateApr 8, 2008

More 'functional' DNA in genome than previously thought

A team of researchers has found that current computer programs can miss up to 60% of regulatory DNA regions, which contribute to inherited diseases like Parkinson's and mental disorders. The study used a novel approach to identify functional DNA sequences in zebrafish embryos, uncovering 17 discrete DNA segments with regulatory potential.

SourceJohns Hopkins Medicine·JournalGenome Research·DateDec 11, 2007

Bioclocks work by controlling chromosome coiling

Researchers found that biological clocks influence gene activity by controlling chromosome coiling in cyanobacteria, suggesting a universal theme for higher organisms. The study provides direct evidence of the regulatory mechanism, which could explain why some genes are active during the day and night.

SourceVanderbilt University·JournalProceedings of the National Academy of Sciences·DateNov 21, 2007

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Scientists at the Salk Institute report that ATM protein activation depends on both damaged DNA and surrounding flanking regions. This discovery reveals a new mechanism for efficient DNA repair, highlighting the importance of intact chromatin in activating the cellular response.

SourceSalk Institute·JournalNature Cell Biology·DateOct 29, 2007

Where broken DNA is repaired

Studies show that double-strand breaks and radiation-induced foci occur at specific regions of the nucleus for repair, contradicting previous assumptions of random distribution. The findings suggest a time effect, with microscope images showing nonrandom distribution of RIF within five minutes of exposure to high-energy particles.

SourceDOE/Lawrence Berkeley National Laboratory·JournalPLOS Computational Biology·DateAug 2, 2007

Invasion of the island bats

A study published in Journal of Biogeography reveals that Caribbean bat species have reversed colonized the continent from which they originated, defying conventional wisdom. This finding highlights the dynamic relationship between islands and the Americas, emphasizing the need for conservation efforts in the West Indies.

SourceBlackwell Publishing Ltd.·JournalJournal of Biogeography·DateMay 8, 2007

Stretching DNA to the limit

A Duke University team develops a method to measure DNA mechanical properties upon irradiation, revealing unraveling of the double helix and crosslinking of bases. This work establishes a relationship between DNA nanomechanics and damage, paving the way for DNA diagnostics.

SourceWiley·JournalSmall·DateApr 24, 2007

Daisies in bloom

A team of researchers has designed a biochip platform using a novel 'daisy' molecule that enables efficient gene expression and protein production without living cells. The system allows for the patterning of genes on silicon surfaces, enabling selective trapping of specific proteins with high spatial resolution.

SourceWiley·JournalSmall·DateFeb 15, 2007

Comparing chimp and human DNA

A new study published in PLoS Genetics has identified specific DNA regions that have accelerated their evolution in humans compared to chimpanzees. These 'Human Accelerated Regions' (HARs) are located near genes involved in growth and development, suggesting they may play important roles in human evolution.

SourcePLOS·JournalPLOS Genetics·DateOct 12, 2006

Comparing chimp, human DNA

Researchers identified 202 'highly accelerated regions' of DNA that have undergone rapid evolution since humans and chimps diverged, with most not coding for genes. These regions are conserved across multiple species, suggesting they play important roles in controlling gene expression and development.

SourceUniversity of California - Davis·JournalPLOS Genetics·DateOct 12, 2006

JCI table of contents: Oct. 5, 2006

Researchers discover RELM-beta's role in IBD, finding it activates macrophages to produce pro-inflammatory factors. Additionally, antibodies against BP180 cause blister formation in mice by activating the classical complement pathway.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateOct 5, 2006

Indiana U researchers closer to finding a genetic cause of hearing loss in aging

A study of 50 pairs of fraternal twins with hearing loss identified a specific region of DNA, DFNA18 on chromosome 3, that may contain an important locus for hearing loss in the general population. The findings suggest variation in genes within this region could lead to differences in susceptibility to hearing loss.

SourceIndiana University·JournalArchives of Otolaryngology - Head and Neck Surgery·DateMay 16, 2006

Region of DNA strongly associated with Alzheimer's disease

A study published in the American Journal of Human Genetics has identified a genetic region on chromosome 10 strongly associated with late-onset Alzheimer's disease. The researchers scanned over 1,400 single-nucleotide polymorphisms and found six genes within this region that may be involved in the development of the disease.

SourceWashU Medicine·JournalAmerican Journal of Human Genetics·DateJan 10, 2006

New methods offer insight into regulatory DNA

Scientists have developed new methods to study the connection between regulatory DNA and disease, using a combination of genome-wide associations and cell culture data. The study identified over 3000 genes that could be subject to modification of activity due to common genetic variations.

SourcePLOS·JournalPLOS Genetics·DateDec 15, 2005

Disparate mole-rats

Researchers studied the genetic markers of African mole-rats to understand their complex social behavior. They found that these microsatellites can reveal how traits pass from mother to offspring, potentially explaining why family members support a single mother naked mole-rat.