Feinstein researchers develop new genetic method and identify novel genes for schizophrenia
... disabling brain disease can be inherited in a recessive
manner. A recessive
trait is one that is inherited from both parents. ... schizophrenia patients had at least one of these recessive
markers, compared to only 45 percent of the ...
UAB's Lisa Guay-Woodford earns top international nephrology prize
... awarded UAB a grant to establish the first North American Autosomal recessive
PKD Database - a comprehensive registry to collect and disseminate ... of Genetic and Translational Medicine and the first director of the UAB recessive
Polycystic Kidney Disease Core Center when it was established in 2005. In ...
Rare genetic mutations protect against hypertension
... started by examining variations in three genes known to cause rare recessive
diseases characterized by large reductions in blood pressure. The analysis ... are conditions characterized by inherited low blood pressure caused by recessive
mutations, where two defective copies of a gene are at play.
Simple reason helps males evolve more quickly
... few genes.
In females, a dominant allele can hide the presence of a recessive
allele, said Lauren McIntyre, an associate professor of molecular genetics ... University who was not involved in the study.
This research shows how recessive
and dominant traits are important in determining variation in populations, ...
Understanding how weeds are resistant to herbicides
... plant with a sensitive plant. We look at its progeny to see if the resistance is inherited to understand the genetics if it's a dominant trait or a recessive
"Pyrosequencing is more like just throwing out a fishing net -- we know we're going to get continued resistance to other herbicides which ...
Muscular dystrophy diagnosis delayed almost 2.5 years in boys
... DMD, the most common muscular dystrophy in children is a particularly devastating form of the disease that affects 1 in 3,500 boys. It is an X-linked recessive
genetic disease with onset of symptoms in boys between 2 and 6 years old. It progresses rapidly, rendering patients wheelchair bound by 10 or 11 ...
Cystic fibrosis testing -- next steps
... and intestines. Approximately 1 in 4000 children born in the United States is affected with cystic fibrosis. Cystic fibrosis is an autosomal recessive
disease caused by mutations in the CFTR gene; cystic fibrosis patients must inherit a mutated gene from each parent.
Genetic screening for ...
Diminuendo -- New mouse model for understanding cause of progressive hearing loss
... which the male mice are administered N-ethyl-N-nitrosurea (ENU), thus influencing the DNA of their sperm. Successor generations develop dominant or recessive
mutations. Using methods like these, Martin Hrab de Angelis and his colleagues in the German Mouse Clinic can thus identify mutants that develop ...
Researchers take first look at the genetic dynamics of inbreeding depression
When closely related individuals mate, their offspring are likely to end up with identical alleles for many traits. Many potentially harmful recessive
alleles are no longer masked by dominant alleles, so more genetic disorders arise. Similarly, offspring that inherit two identical alleles for some ...
Cats' eye diseases genetically linked to diseases in humans
... disease," Narfstrom said. "As a surgeon, I can use the same treatment methods and tools in cats that they use in humans."
Human autosomal recessive
RP is among the most common cause of retinal degeneration and blindness, with no therapeutic intervention available. Initially it leads to night ...
Evolution education for K-12 teachers needs beefing up, says CU-Boulder professor
... from thousands of students regarding their understanding of evolution and natural selection, genes and traits, including the notion of dominant and recessive
genes, he said. Such essays have helped to identify commonly held misconceptions of biochemical processes, he said. As part of BCI, Klymkowsky and ...
New drug holds out promise of normal diet for sufferers of devastating PKU genetic disease
... (PKU), a genetic disease that means her body can't tolerate anything more than a low-protein diet.
PKU is described by scientists as an autosomal recessive
genetic disease that is characterized by a deficiency in an enzyme called phenylalanine hydroxylase (PAH).
Without PAH, the body cannot ...
New research helps explain genetics of Parkinson's disease
... ( www.jcb.org ).
Loss-of-function mutations in the gene Park2, which encodes an E3 ubiquitin ligase (Parkin), are implicated in half the cases of recessive
familial early-onset Parkinson's disease. Several lines of evidence suggest that Parkin loss is associated with mitochondrial dysfunction, but ...
Fitness in a changing world
... of the gene (heterozygous or homozygous for the Eda complete allele). The fish lack the full complement of plates if they are homozygous for the recessive
gene--Eda low. From the laboratory mapping results, and the rapid loss of plates observed in nature, biologists hypothesized that selection would ...
Research pushes back history of crop development 10,000 years
... field of Archaeobotany is also producing further evidence to undermine the quick development model. The tough rachis mutant is caused by a single recessive
allele (one gene on a pair or group of genes) , and this mutant is easily identifiable in the archaeological specimens as a jagged scar on the chaff ...
Hebrew University develops novel approach for treating mitochondrial disorders
... the effectiveness of DERT by treating the mitochondrial disorder lipoamide dehydrogenase (LAD) deficiency. LAD deficiency is an inherited recessive
disorder, which results in extensive metabolic disturbances due to a reduction in the activity of the LAD enzyme within the mitochondria.
Gene therapy slows progression of fatal neurodegenerative disease in children
... Liebert, Inc. The paper is available free online at www.liebertpub.com/hum
Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) is an autosomal recessive
genetic disorder that causes degeneration of the central nervous system. It is a form of Batten disease, a group of lysosomal storage disease in ...
New gene discovered for new form of intellectual disability
Whats really exciting is that the new gene, CC2D2A, encodes a protein with domains similar to those found in one of the previous four autosomal recessive
MR genes. This link could suggest a common function that is essential for normal brain development, says Dr. Vincent.
Dr. Vincent and his team ...
Molecular basis for neurodegeneration in Ataxia telangiectasia
... immunodeficiency disease that affects multiple organ systems and is characterized by neurodegeneration and cancer predisposition. A-T is caused by recessive
mutations in the ataxia telangiectasia mutated (ATM) gene.
While existing animal models have established how ATM mutations contribute to genomic ...
A genetic cause for iron deficiency
... suggest that more common forms of iron deficiency anemia may have a genetic component, says Andrews.
All patients in the study apparently had recessive
mutations, since their parents did not have iron deficiency anemia. The investigators now want to determine whether people with just a single ...
Study identifies pathway required for normal reproductive development
... copies of Prok2 gene revealed that the animals reproductive defect is due to the abnormal migration of neurons that secrete GnRH.
human genetic disorders, particularly the ones that have associated infertility symptom, are very difficult or almost infeasible to investigate using ...
... their position in the domestic unit.
Among populations with a high level of familial endogamy, there may also be a relatively high risk of recessive
disorders which develop in childhood. However, the children of Bedouin first-cousin parents were not significantly more likely to die in childhood, ...
Mutant gene causes severe kidney disease in infants
... of kidney disease and renal failure in children: recessive
mutations in a gene called phospholipase C ... first report of infants with two mutations in a recessive
gene for steroid-resistant nephrotic syndrome who ... children with the disease. All 12 had inherited recessive
mutations in PLCE1 from both parents. None of the ...
Researchers discover new gene responsible for brittle bone disease
... osteogenesis imperfecta can be inherited in a recessive
manner. Previously, the genes known to be ...
The newly discovered gene however is a recessive
trait, signifying that the disease can be passed down generation to generation, with recessive
forms accounting for recurrence. When each parent ...
Pitt professor's theory of evolution gets boost from cell research
... upheaval causes genes to mutate, and those altered genes remain in a recessive
state, spreading silently through the population until offspring appear ... different environment by the time the novelty finally escapes its recessive
state and expresses itself.
"You just can't do a quick fix on the ...
'Lucky 13' as new gene discovery offers further hope for childhood blindness
... So our findings, together with the recently announced clinical trials, hold great promise."
Mutations in LCA5 are relatively rare. As it is a recessive
gene, a child would need to be carrying two copies of the gene to develop LCA, one from each parent. However, the disorder is more common within ...
Scientists seek useful traits in wild cottons
... leaves (bracts) at the base of each boll a few days after flower blooms open.
Determining whether this trait is dominant, co-dominant or recessive
and finding its DNA location could help breeders develop upland cottons that require less lint cleaning ?producing cleaner fiber with less ginning ...
Discovery of the first resistance gene to rice yellow mottle virus
... to the virus with a view to optimizing their use.
Standard genetic studies first found evidence that resistance was controlled by a single recessive
gene. Subsequent genetic mapping identified a fragment of chromosome 4 containing the resistance gene. Data from rice genome sequencing have been ...
Critical hearing gene helps send auditory messages to brain
... at the cell membrane by tethers known as "ribbons."
The current study follows up a report by Petit's team several years ago that people with a recessive
form of deafness harbor two abnormal copies of the otoferlin gene. They also had some evidence hinting that the gene might act as a calcium sensor ...
UCSD research reveals mechanism involved with type of fatal epilepsy
... tissues of Lafora disease patients. Thus, researchers have long thought that a defect in glycogen metabolism is intimately linked to the disease. recessive
mutations in two genes have been shown to cause Lafora disease. The genes encode the proteins laforin and malin, but the molecular mechanism defining ...
Scientists identify molecule that regulates well-known tumor suppressor
... DJ-1 may play a role in other disease states, as it has also been recently identified as a predictive diagnostic for early-onset, autosomal recessive
The other members of the research team include Raymond H. Kim, YingJu Jang, and Tak W. Mak of Ontario Cancer Institute and ...