Tag: "mutation" at biology news
Interaction of just 2 genes governs coloration patterns in mice
...his receptor and turns it off. A single amino-acid mutation
in Mc1r gene can weaken the receptor's activity, or a mutation
in the Agouti gene can increase the amount of protein present without changing the protein's sequenc...
Newly created cancer stem cells could aid breast cancer research
... preexists in the breast and becomes the object of mutation
and selection, Weinberg says....
Antioxidant overload may underlie a heritable human disease
...dy, the researchers examined mice carrying a human mutation
earlier linked to so-called protein aggregation skeletal myopathies and cardiomyopathies, in which weakening skeletal and heart muscle contain clumps of proteins. Although the genetic basis for the disease had been linked to mutations in one of two g...
JCI table of contents: Aug. 9, 2007
...hat a subset of individuals with AML had a genetic mutation
known as a SNP that decreased the ability of this region of DNA to enhance PU.1 gene expression. In the study, which appears online on August 9 in advance of publication in the September print issue of the Journal of Clinical Investigation, Daniel ...
Proteaceae spread by continental drift and transoceanic dispersal
...ed fossils that are of known age and affinity, the mutation
rate of the DNA sequences was calculated, allowing these scientists to provide age estimates for evolutionary events in the family. Our results show that ancestors of some of the modern Proteaceae must have crossed the Atlantic and Indian Oceans. Thu...
News tips from the Journal of Neuroscience
...r release of primed vesicles. Expression of the NV mutation
that prevents binding to closed syntaxin1 reduced vesicle docking. However, Munc18-1 NV rescued release, albeit to a lesser extent than wild type. Thus, Munc18 regulates a postdocking (priming) step by a mechanism that does not require binding to syn...
Research team enlightens the reasons for severe blindness
... birth. The disease can be caused through a single mutation
in different genes; with the newly discovered LCA5...vidual patient, it is important to know which gene mutation
occurred in the specific case and what it causes, underlines Dr. Marius Ueffing (GSF Institute for H...
Genetic analysis finds greater threat in frog-killing fungus
...ovides enough time for isolates to diverge through mutation
and genetic recombination. If the fungus is endemic to a region, the animals in the area would normally be resistant to its destructive effects because they would have co-evolved together. However, biologists theorize that changes to the environmen...
A sensory organ, not the brain, differentiates male and female behavior in some mammals
...ical Institute. "Nobody had imagined that a simple mutation
like this could induce females to behave so thoroughly like males." The results do not apply directly to humans, which lack a vomeronasal organ, but may open new avenues of investigation for research into sex-specific human behavior. Dulac and co...
Unknotting DNA clue to cancer syndrome
...UC Davis study that explains the actions of a gene mutation
that causes early onset cancer provides a fundamen...ancer in their twenties. The underlying cause is a mutation
in a gene called Blm, which encodes a member of the RecQ family of DNA-unwinding enzymes, or helicas...
Penn researchers discover pathway that eliminates genetic defects in red blood cells
...alassemia studied by the Penn group is caused by a mutation
that allows the cells ribosome to read too far, ma...olecule in blood hence the anemia. The particular mutation
they study is carried by millions of people in Southeast Asia and is a major a cause of fetal loss a...
JCI table of contents: August 1, 2007
...d the EGF gene to this list and identified why one mutation
in this gene causes hypomagnesemia. In the study...Medical Center in The Netherlands, observed that a mutation
in the EGF gene was the cause of hypomagnesemia in two individuals with isolated autosomal recessive...
Aggressive therapy best for certain AML patients
...r cells have normal-looking chromosomes and a gene mutation
called MLL-PTD. Typically, these AML patients r...study suggests that treating patients who have the mutation
with an aggressive therapy such as an autologous stem cell transplant while they are in remission mi...
Screening for fragile skin
...bsequent support from the Breeders Society. "The mutation
exists in sheep from most of the Australian flocks weve tested," Dr Berg said. Technical assistant Nelson Jimenez selects White Dorper hairs for analysis in the Regional Veterinary Laboratory at Camden. "Of the substantial number of sheep tested, ...
Huntington's disease study shows animal models on target
... hereditary neurodegenerative disorder caused by a mutation
in the gene that encodes the huntingtin protein. Neurons in certain regions of the brain succumb to the effects of the altered protein, leading to severe motor, psychiatric, and cognitive decline. Several recent studies have shown that the mutant hun...
Research teams uncover risk genes for multiple sclerosis
...ronary artery disease. Unlike diseases caused by a mutation
in a single gene, these conditions seem to arise from a combination of genetic, behavioral and environmental factors. Jorge Oksenberg, PhD, a UCSF neurology professor who has been involved in the development of the UCSF collection for more than a d...
Researchers find pathway that controls cell size and division
... when to divide Further work indicated that the mutation
perturbed FtsZ ring formation. In the cell, FtsZ exists in a balance between its unassembled and assembled state. The enzyme trio regulated FtsZ ring formation by changing this balancepushing FtsZ towards its unassembled state when the cells were gro...
Risk genes for multiple sclerosis uncovered
...ronary artery disease. Unlike diseases caused by a mutation
in a single gene, these conditions seem to arise from a combination of genetic, behavioral, and environmental factors. Scientists believe that a host of genetic variations may contribute to a persons susceptibility. For instance, Hafler points out th...
U-M researchers identify gene involved in breast cancer
... located on the X chromosome, which means a single mutation
can effectively silence the gene. This is unusual, as only one other gene linked to cancer has been found on the X chromosome. When one copy of the FOXP3 gene is silenced, the researchers found in studying mice, 90 percent of the mice spontaneousl...
New model for autism suggests women carry the disorder and explains age as a risk factor
...e explained by assuming that spontaneous germ-line mutation
is a significant cause of the disorder. Parents, especially women, who acquire the mutation
but do not exhibit severe symptoms of the disorder have a 50% chance of passing the mutation
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