These small differences in DNA sequence, or genetic variation, may or may not
affect gene function.
Although they rely on certain assumptions, such as the ability to define which variants truly
affect gene function, aggregation tests have another thing going for them.
Not exact matches
In individuals
affected by SMA, the survival motor neuron - 1 (SMN1)
gene is mutated and lacks the ability to process a key protein that helps neurons
function.
The goal of early SMA drug discovery programs has been to identify small molecules that induce the SMN
gene to produce sufficient levels of protein to improve motor neuron
functioning in
affected patients.
In individuals
affected by SMA, the spinal motor neuron - 1 (SMN1)
gene is mutated and lacks the ability to process a key protein that helps muscle neurons
function.
Variability in the tail — in length or in their position,
affects the
function of the messenger molecules, and hence influences
gene expression.
Previous studies have looked mainly at
genes causing atherosclerosis and
genes affecting the
function of platelets and clotting processes as risk factors for ischemic stroke (clot obstructing blood flow to the brain).
More than a hundred sites in the genome showed strong evidence of recent selection, including
genes that
affect muscle tissue, hair, hearing, immune - system
function, skin pigmentation, sense of smell, and the body's response to heat stress.
This epigenetic alteration of
gene activity in brain cells that receive this neurotransmitter showed for the first time that dopamine deficiencies can
affect a variety of behavioral and physiological
functions regulated in the prefrontal cortex.
One
gene that controls this pathway, HDAC7, is known to be a key factor in immune tolerance and the new data strongly suggests exploring the possibility that drugs
affecting HDAC7
function may serve as future therapeutics in PSC.
Three decades of research have shown that loneliness can
affect levels of stress hormones, immune
function, and even
gene expression, while human interaction increases levels of oxytocin, a bonding hormone that reduces blood pressure and cortisol levels.
Additional research is also needed to determine how the C version of the
gene affects the protein's
function.
«Insertion of some transposable elements can
affect the expression and
function of protein - coding
genes, so the cessation of mobile DNA activity may have slowed the rate of evolution of both genome structure and
gene function.»
«Because many broadly expressed
genes that play key roles in essential cellular
functions are under the control of cell - specific enhancers, the ability to
affect enhancer
function by knocking down eRNAs could potentially provide a new strategy for altering
gene expression in vivo in a cell - specific manner,» said Glass, noting that in his research, anti-sense oligonucleotides were developed in conjunction with Isis Pharmaceuticals, which suppressed enhancer activity and reduced expression in nearby
genes.
Molecular analysis showed that heart cells in
affected animals were poorly developed and had mitochondrial defects, indicating that Sap130 - Pcdha9
gene interactions play a crucial role not only in heart development but also in regulating metabolic
function of the cardiac muscle.
A significant finding by the team was that either the mutant KRAS
gene or another cancer
gene is amplified, depending on which tumor suppressor
gene is
affected and to what degree its
function is impaired.
The epigenetic pattern consists of molecules known as methyl groups, which are placed on the
genes and
affect their
function and
gene expression.
The goal of the NIH program, as described on its website, is «to understand the principles behind the three - dimensional organization of the nucleus in space and time (the fourth dimension), the role nuclear organization plays in
gene expression and cellular
function, and how changes in the nuclear organization
affect normal development as well as various diseases.»
So even though the
genes that cause ALS and SMA are different, they might share a common pathway that
affects motor neuron structure and
function.»
«Experience and environmental stimuli appear to almost constantly
affect gene expression and
function throughout the brain.
Chromatin is the protein packaging that helps regulate genome
function by controlling access to DNA; changes in this packaging can
affect gene regulation.
«We hope that in the future, by fully understanding how this
gene affects signaling in the brain, we may be able to identify drugs to restore the normal signaling balance in neurons and improve cognitive and social
function in patients,» says lead author Dr. M. Chiara Manzini.
Since proper
functioning of the fat body is essential for the development of the female reproductive system after a blood meal, identifying which miRNAs are important to fat body
functions, and what specific
genes they target, can help design ways to manipulate the levels of microRNA or their targets,
affect their interactions, disrupt mosquito reproduction, and thus prevent the spread of diseases the mosquitoes transmit.
«We are hopeful that a systemic dose and delivery of
gene therapy would broadly affect whole - body strength and function, and we are working on a host of projects for such systemic delivery in Pompe and other neuromuscular conditions,» said Barry Byrne, M.D., Ph.D., director of the Powell Gene Therapy Center, a professor of pediatrics in the UF College of Medicine, and a member of the UF Genetics Instit
gene therapy would broadly
affect whole - body strength and
function, and we are working on a host of projects for such systemic delivery in Pompe and other neuromuscular conditions,» said Barry Byrne, M.D., Ph.D., director of the Powell
Gene Therapy Center, a professor of pediatrics in the UF College of Medicine, and a member of the UF Genetics Instit
Gene Therapy Center, a professor of pediatrics in the UF College of Medicine, and a member of the UF Genetics Institute.
With further research into how these
genes affect the brain, it could become possible to understand how
genes linked to schizophrenia
affect people's cognitive
function,» said McIntosh.
ERVs — perhaps inherited millions of years ago — may
affect genes important to placenta
function and thus may improve our ability to carry a pregnancy.
«What we are trying to do is identify the
function of
genes and how they
affect the way the individuals process information and the structure of the brain.
Alsin's
function isn't clear, but because the
affected family members have two defective copies of the
gene, called ALS2, the protein could play a role in motor neuron
function.
Scientists are beginning to understand that genetic mutations are not the sole contributors to disease development and that the way in which
genes are arranged in our cells can
affect whether they
function appropriately — that is, whether they are turned on or off.
So far, scientists have found that different populations of living humans have inherited the Neandertal version of
genes that cause diabetes, lupus, and Crohn's disease; alter immune
function; and
affect the
function of the protein keratin in skin, nails, and hair.
Alexander Wyatt says: «Despite the enormous complexity between patients at the individual
gene level, when we examined the
functions of
affected genes, clear commonalities between groups of patients emerged.
They hit pay dirt on chromosome 10, finding such a marker in a region with several
genes thought to
affect heart
function.
The regulation of the CAMP
gene by vitamin D was discovered by Gombart, and researchers are still learning more about how it and other compounds
affect immune
function.
For now, Stadler's team wants to focus on the regions in which it found altered
gene numbers to see how the CNVs
affect gene and protein
functions.
Chemical compounds that
affect the
functioning of
genes can bind to our genetic material, turning certain
genes on or off.
«But
genes tied to autism tend to
affect specific
functions, such as the connections between brain regions that are essential to many human - specific behaviors, like speech and language.»
An improved understanding of the biological background of musical aptitude can contribute new insights into, for instance,
genes that
affect normal brain
functions, the interactions between
genes and the environment and the significance of music as a form of therapy.
«We found that endurance training in a coordinated fashion
affects thousands of DNA methylation sites and
genes associated to improvement in muscle
function and health,» says Carl Johan Sundberg.
They found that the associated regions contained numerous candidate
genes, among them
genes known to
affect ear
function, language development, memory, bird song and the brain's reward mechanism.
They then used the model to predict how autism - linked variants in the NHE9
gene would
affect the protein's shape and
function.
As a result, the protein encoded by the
affected gene has a patch, where only the building block glutamine can be found, disrupting that proteinâ $ ™ s usual
functions in the body.
The current work shows that changes in the genetic code of a particular
gene can control epigenetic marks at different
genes, implying that a
gene's genetic code can
affect whether other
genes are turned on and off, which makes it important to understand the
function of all
genes involved, not just the one with the so - called misspelling.
These mice are also primed for RNA interference from birth, so when the time comes — be it after the onset of the disease, or prior to — the team can turn off a specific
gene to see how the loss of its
function affects diabetes or the risk of diabetes.
Dr. Coyle's Laboratory for Psychiatric and Molecular Neuroscience takes advantage of insights into recently identified
genes that confer risk for schizophrenia and related disorders and translates them into genetic mouse models to determine how these mutations
affect brain changes as well as
function, neurochemistry, and behavior.
The finding that bsl1 - 1 and bsl1 - 2 fail to complement and have SNP variation
affecting dramatic changes in the coding capacities of the same
gene demonstrate that loss of Sevir.7 G140700
function is responsible for the bsl1 mutant phenotypes.
The study also demonstrates an association between NCAN variations with volumes of certain brain regions in young adults and infants, suggesting that the
gene is able to
affect brain structure and
function.
To better understand this complex tissues and its
functions — and the diseases that
affect it — a multicenter team led by researchers at the Broad Institute of MIT and Harvard and Massachusetts General Hospital has released a census of the cells that make up the lining of the small intestine, using
gene expression profiles of more than 53,000 individual cells from the mouse gut or gut organoid models.
We found that an unusually high number of
genes affected by these DNA deletions / duplications are associated with the
functioning of synaptic transmission between nerve cells.
The next step based on these novel head and neck cancer discoveries, the scientists agree, is to tease out how the
genes function in normal cells, whether they form the lining of the larynx, pharynx, or another anatomical site
affected by head and neck cancer.
Although this compound exhibits a preference for AT - rich regions, overall it is expected to
affect expression of a multitude of different
genes involved in diverse biological
functions.