These alterations in non-coding DNA sequence can
affect normal gene function, in addition to how much, when and where in the organism a melanocyte cell decides a gene product should be produced.
Not exact matches
Similarly, someone who inherits the version of a particular
gene that's associated with obesity will be more likely to wind up fat than someone who inherits a
normal version, but that tendency can be
affected by environmental factors such as how much fattening food is available.
The research suggests that reducing production of the protein, called myoferlin,
affects cancer cells in two primary ways: by changing the activation of many
genes involved in metastasis in favor of
normal cell behavior, and by altering mechanical properties of cancer cells — including their shape and ability to invade — so they are more likely to remain nested together rather than breaking away to travel to other tissues.
We know less about how
genes affect behavior as animals go about their
normal routines.
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.»
The researchers found that over 25 percent of index patients with
normal results from commercial testing of BRCA1 and BRCA2, but with families severely
affected by breast cancer, could be resolved by sequencing all
genes known to be involved in breast cancer.
«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.
But new research presented today at the American Physiological Society (APS) annual meeting at Experimental Biology 2017 in Chicago suggests that
normal levels of vitamin A within a high - fat diet can negatively
affect expression of liver
genes associated with glucose and fat metabolism.
The two
genes are known to cause a type of pediatric glaucoma by
affecting the
normal migration of vital stem cells to the eye.
A region of the
gene that produces the PACAP38 protein has held nearly constant, even in humans, presumably because the protein plays diverse roles in neuron communication and is essential for
normal development of the cerebellum,
affecting brain cell migration, for example.
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.
The illness occurs when a DNA mutation within one of the
genes affects the
normal ocular development or induces photoreceptor — the cones and rods - degeneration.
Simon's strategy is to compare the effects of a drug on a
normal strain of yeast and a strain with a mutation in one of the many
genes that
affect normal cell division - a property that is disrupted in cancerous 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.
Progression from
normal epithelium to colorectal cancer requires an accumulation of mutations in particular
genes that
affect the balance between proliferation and apoptosis.
Many medical - genetic syndromes show a clear connection between genetic alteration and typical facial gestalt [49], hence
genes involved in
affected individuals may also contribute to
normal variations in facial shape.
«GTEx will begin to provide researchers with a comprehensive view of genetic variation and a more precise understanding of how it
affects genes critical to the
normal function of tissues and organs,» said NIH Director Francis S. Collins, M.D., Ph.D. «This resource will add a new dimension to our understanding of human biology and the mechanisms that lead to disease.»
That means I need to find ways to increase BDNF more than in someone with the
normal gene in order to preserve my cognitive function, memory, and emotional regulation.8 Mu, J.S., et al. «Deprivation of Endogenous Brain - Derived Neurotrophic Factor Results in Impairment of Spatial Learning and Memory in Adult... continue 9Cirulli, F., et al. «Intrahippocampal Administration of BDNF in Adult Rats
Affects Short - term Behavioral Plasticity in the Morris Water Maze and... continue
Recent scientific research has discovered that many dogs with two
affected genes may develop the condition whereas dog with only one
affected gene or with two
normal genes will not.
They successfully identified the
gene causing rcd - 1 in Irish Setters, and developed a blood test which can identify dogs with
normal DNA, dogs which are carriers, and dogs which are genetically
affected with PRA, even though they do not yet show signs.
However, looking at our square we know that some of these «
normal» dogs actually have a phenotype of Pp, meaning that they are PRA carriers, and can pass the PRA
affected gene to their offspring.
The DNA - based Improper Coat (IC) test detects the presence of the insertion in the RSPO2
gene and determines genotype of a tested dog as being
NORMAL, CARRIER or HOMOZYGOUS
AFFECTED (Improper Coat).
When clinically
normal dogs produce
affected offspring, it strongly suggests the disease is inherited as a simple recessive (or potentially a polygenic — multiple
gene) trait, and both parents carry one «bad» copy of the
gene causing the disease.
Because the OptiGen CD test is a mutation - based
gene test, it accurately and specifically identifies
normal dogs, carriers (heterozygous dogs) and
affecteds.
A
normal male that is a littermate to an
affected female, however, would be able to carry on the line without propagating the defective
gene.
A clinically
normal dog from a litter that had one or no individuals
affected with hip dysplasia (which is a polygenic disorder) is expected to carry a lower amount of liability
genes than a dog with a greater number of
affected littermates.
If one recognizes that with regard to heredity of
genes all living things are either CLEAR,
NORMAL / CARRIERS OR
AFFECTED it becomes clear that testing of whole litters is the only way to be aware of those factors present in a brood bitch / stud dog.
This area becomes a bit more gray, because while there is a very good argument for not breeding close relatives of
affected and carrier dogs, we also can not afford to eliminate all dogs in the
gene pool who meet this criterion — to do so would risk further constriction of the
gene pool to the point where the remaining «epilepsy - free» individuals might have higher - than -
normal frequency for
genes that contribute to some other genetic disorder.
An inherited predisposition has been identified in Siamese cats and in
affected cats it has been demonstrated that there is a
gene mutation that results in the formation of an amyloidogenic form of serum amyloid A (SAA) protein (in
normal cats this protein does not result in amyloid deposition).
For a recessive disease, all offspring of
affected individuals, two thirds of their
normal full - siblings, half the offspring of either parent and up to half the full - siblings of both parents carry a deleterious
gene and yet appear
normal.
The canine disease is compared to similar diseases in other species, most often humans, to determine if there are any possible candidate
genes (i.e.,
genes that are known to be involved in these similar diseases or in the
normal processes
affected by the disease may offer important leads).
Carriers, which have one
normal gene and one
affected gene, have a moderate amount of
normal vWF and dogs which are clear have two
normal genes and have
normal levels of vWF.
Dogs without any copies of the diseased
gene or carriers with one copy of the PDP1 deficiency form of the
gene will be clinically
normal but the carrier will pass the
affected gene to approximately half the offspring.
Dogs
affected with Type I vWD have a mutation which allows
normal vWF to be produced part of the time, so even dogs with two copies of the defective
gene (
affected dogs) have some minimal amount of
normal vWF.
Called «genetically clear», «noncarriers» or, more formally, «homozygous
normals,» such dogs pass the
normal gene on to all their pups with a very high probability - which means that their pups have a very low risk of being
affected with prcd.
The
affected dog has both mutated copies of the
gene and develops cataracts, while the clear dog has two
normal genes.
Genetic test results for the mutation will be
normal, carrier (one copy of the mutated
gene), or
affected (two copies of the mutated
gene).
The purpose of Dr. Gustavo Aguirre's research is to identify the
gene and mutation responsible for inherited cataracts in Cocker Spaniels, and subsequently, to develop a genetic test that can identify genetically
normal,
affected, and carrier dogs.
New research is being done to identify the
gene and mutation responsible for inherited cataracts in Cocker Spaniels, and subsequently, to develop a genetic test that can identify genetically
normal,
affected, and carrier dogs.
In order to perform candidate
gene screening, we collected blood samples from
normal and
affected Swedish vallhund dogs.
Homozygous
affected / mutated
gene (
affected)-- If the clinical signs are consistent with those of DM, and if the advanced imaging and CSF analysis are
normal, it is likely (but not definitive) that this dog has DM.
Because this material appears to be more abundant in
affected Swedish vallhund dogs compared to other forms of PRA with primary photoreceptor death or compared to the
normal aging canine retinas, we suspect that the autofluorescent material is intimately associated with the disease - causing
gene mutation.