Articles tagged with Gene Families
A team of researchers has identified a single gene that causes familial advanced sleep phase syndrome (FASPS), a rare sleep disorder. The study found that the disorder follows a simple Mendelian inheritance pattern, making it easier to find the responsible gene and potentially leading to new treatments for circadian rhythm disorders.
The discovery of the narcolepsy gene in dogs by Dr. Emmanuel Mignot opens the door to identification of the gene in humans and development of new treatment approaches. The study also links hypocretins, a recently discovered family of brain neuropeptides, to regulating sleep.
Researchers use genomics to create 'road maps' of plant genomes, allowing them to quickly locate desirable traits and move them into other crops. This new approach promises to speed the development of crops that can withstand environmental stresses.
Researchers have found another aberrant gene on chromosome 2 that produces identical symptoms to the X-chromosome gene discovered earlier. The discovery improves genetic diagnosis prospects and may help in developing future therapies for hypohidrotic ectodermal dysplasia.
A new study reveals a common genetic theme in three distinct animal species, supporting a simplified three-limbed tree of life for nearly all animals. The findings provide powerful evidence to place mollusks to humans on the same evolutionary tree.
Researchers have identified a new mechanism for regulating gene expression that could help scientists understand developmental birth defects and other medical conditions. The TRA-1 protein plays a critical role in binding to DNA and controlling mRNA movement, which affects protein production during embryo development.
A newly discovered gene family, Morc, regulates important biological processes and may play a role in cell division in all tissues. The researchers also believe that the Morc family members may malfunction in cancer cells.
HHMI researchers found a molecule called lynx1 in the brain of mice that is similar to a major component of deadly snake toxins. Lynx1 may be involved in pathways linked to memory and muscle function.
Hereditary colorectal cancer tumors with high microsatellite instability (MSI) levels show a lack of genes responsible for DNA mismatch repair, vital to DNA replication. This can lead to faulty repair and colon cancer development.
Researchers at NICHD discovered a gene, Lhx5, that controls the development of the hippocampus, a brain structure critical for learning and memory. The gene's inactivation leads to a malformed brain structure, highlighting its importance in complex brain function.
The study found that misexpression of Tbx4 in the forelimb region leads to leg-like structures, while misexpression of Tbx5 in the hindlimb region results in wing-like structures. These findings suggest that Tbx4 and Tbx5 play crucial roles in determining fore- and hindlimb identity.
Scientists have identified a gene called Pitx1 that can partially transform the upper limb of a vertebrate into a structure resembling its lower limb. The study found that Pitx1 is one of three genes thought to play a role in giving upper and lower extremities their identity.
Scientists identified a new gene called derrière that controls the formation of the posterior regions of the embryo, including the neural tube and muscles. Derrière plays a key role in inducing precursor tissues that will eventually form muscle, making it a potential target for regenerating muscle in wasting diseases.
A study at the University of Pennsylvania Medical Center found that certain retrotransposons can pick up flanking genetic sequences and insert themselves along with tag-along DNA, creating novel genetic combinations. This mechanism may contribute to evolutionary change in humans and other mammals by generating genomic diversity.
Researchers have identified two genetic mutations as the cause of megaloblastic anemia 1, a rare disease affecting vitamin B-12 absorption. The disease is exceedingly rare, occurring in only one person in a million, but can be fatal if left untreated.
A study by Johns Hopkins Medicine reveals that nearly 90% of prostate cancers are linked to a common genetic process called 'gene switching,' which can be reversed with drugs. This finding has the potential to correct one of the most common cancers in men without using typical gene therapy.
A study suggests that an imbalance in genes expressed on the X chromosome may lead to ovarian cancer development. The research found nonrandom X-chromosome inactivation in over 50% of women with invasive ovarian cancer, particularly those with BRCA1 mutations.
Researchers at Washington University School of Medicine found a strong link between genes and the accumulation of extra belly fat and insulin resistance. The study suggests that people with certain genetic traits are more likely to develop type II diabetes and abdominal visceral fat, even if they follow healthy lifestyles.
Researchers have identified a gene, Irx4, that regulates the formation of heart chambers in vertebrates. The discovery provides new insights into cardiac development and opens up opportunities for discovering other genes involved in this process.
Researchers identified a gene called Irx-4 that helps maintain the boundaries between heart chambers. The discovery opens up new avenues to understand heart chamber formation and may also shed light on the cause of certain heart defects.
Researchers have localized a new gene, SCA10, associated with a rare form of inherited ataxia that also causes seizures in 20% of family members. The finding may shed light on the pathogenesis of epilepsy.
Researchers have found a copper ion plays a crucial role in helping plants detect minuscule concentrations of ethylene, a hormone that triggers ripening and aging. The discovery confirms a long-standing hypothesis about protein receptors and their interaction with transition metals.
A recent gene study published in Science magazine contradicts decades of research suggesting that birds are the closest relatives of reptile groups. Turtles have been found to be the closest living relatives of crocodilians, according to the analysis of 24 nuclear genes and 9 DNA segments from reptile cells.
The new genomics center will be linked to several institutions, including the New York State College of Agriculture and Life Sciences, and will strengthen existing databases for grain and plant genetics. This partnership aims to provide an internationally valuable resource for research storage and analysis of genetic data.
Scientists at The Jackson Laboratory have cloned the gene for mouse neuromuscular degeneration, a devastating neurological disease that affects humans such as amyotrophic lateral sclerosis and spinal muscular atrophy. The discovery provides an additional tool for understanding motor neuron death and may lead to new treatments.
A team of researchers discovered that malfunctions in the Tlr4 gene set the stage for septic shock, an often-fatal consequence of widespread bacterial infection. Identifying individuals susceptible to septic shock could lead to preemptive treatment with antibiotics and development of new drugs.
Researchers found a SEX-1 hormone receptor signal in C. elegans that helps determine sex by counting X chromosomes, similar to the human Dax1 gene.
Researchers at Fred Hutchinson Cancer Center found that genetic techniques for matching patients with marrow donors can eliminate guesswork and improve survival rates. The study of 300 patients with chronic myeloid leukemia showed that even single mismatches in key genes don't affect long-term survival.
Hopkins researchers found a genetic change called loss of imprinting (LOI) in 44% of colon cancer patients and 13% of healthy individuals. LOI is linked to microsatellite instability, which can predict patient outcomes.
A study by University of Georgia and New Zealand Forest Research Institute found seven genes causing pine tree death due to inbreeding. Inbred trees suffer from slow growth, deformities, and sudden deaths before maturity.
Scientists at UNC-CH discovered that Groucho proteins and Tcf interact to repress internal signaling activity, determining which genes are turned on. This finding could help explain cancer development and contribute to therapies to reverse deadly growth.
In a study on roundworms, UCSF researchers found that a gene controlling aging acts not within individual cells but rather coordinates the aging process of the whole organism. The discovery suggests a mechanism that causes all cells to reach a consensus on aging, potentially offering insight into human aging.
Myuanan Long, a University of Chicago researcher, has received the David and Lucile Packard Fellowship to study gene evolution. He believes that new genes arise through shuffling and mixing of existing genes or gene fragments, with 'junk' DNA playing a crucial role in this process.
Gene therapy aims to treat unborn children with genetic disorders like SCID and alpha-thalassaemia. The treatment involves introducing healthy copies of the defective gene into the fetus, but raises concerns about potential risks and long-term consequences.
A team of international researchers has pinpointed the site of the first gene for prostate cancer located on the human X chromosome. This discovery may account for almost 20 percent of disease in families with a strong history of the cancer.
Scientists have isolated the WFS1 gene responsible for Wolfram Syndrome, a rare form of insulin-dependent diabetes. The disorder is characterized by insulin-secreting cell death and progressive neurodegeneration, leading to blindness and premature death. Understanding this gene may lead to new treatments for common forms of diabetes.
Researchers at UT Southwestern Medical Center have developed an animal model for human colorectal cancer, which will facilitate research into the molecular mechanisms of the disease. The model, based on a colon cancer mouse, allows for testing of chemoprevention agents and new drug treatments.
Scientists have discovered two new variants of the APC gene associated with an increased risk of bowel cancer. These variants, found in a study published in the Proceedings of the National Academy of Sciences, may be more common than previously thought and increase susceptibility to pre-cancerous polyps.
Researchers have found the first connection between the loss of a tumor suppressor gene and activation of an oncogene, providing new insights into the genesis of most cases of colon cancer. The study reveals that mutated APC genes switch on MYC, a gene associated with various cancers in animals and humans.
A 15-year study in over 100 families and 1,000 subjects provides the first reliable evidence of genetic susceptibility to schizophrenia. The study identified a stretch of DNA on chromosome 13 associated with schizophrenia susceptibility.
A research team has identified a gene that causes two forms of muscular dystrophy, a genetic disease characterized by progressive weakness and deterioration of skeletal muscles. The discovery may lead to improved diagnosis and treatment options for patients with these disorders.
Researchers have confirmed a genetic influence for Alzheimer's disease in families with high incidence of the disorder. The study identified a gene on chromosome 12 associated with an increased risk and susceptibility to late-onset Alzheimer's disease, offering new insights into the disease's causes.
Researchers at the University of Pennsylvania Cancer Center have identified a genetic mutation in the CYP3A4 gene associated with prostate cancer progression. Men carrying this mutation are nearly 10 times more likely to develop advanced tumors, highlighting the potential for targeted prevention strategies.
University of North Carolina at Chapel Hill scientists have found that the BRCA1 gene is necessary for transcription-coupled repair of certain types of DNA damage, which can lead to breast and ovarian cancer. The study provides direct evidence of the gene's role in DNA repair and may help develop new treatments for cancer.
A gene defect has been identified as causing a form of hereditary blindness, retinitis pigmentosa. The discovery links the disease to a malfunction of the cytoskeleton, which forms the skeleton of cells and affects internal transport and cell division.
Researchers are identifying the gene that causes Alström Syndrome, a recessive genetic disorder causing blindness, hearing loss, and other conditions. By studying DNA samples from living individuals and their families, they hope to find the gene's location and develop an animal model for the disease.
Researchers at University of Chicago and Johns Hopkins Medical Institutions identify genetic regions on chromosomes 1p, 3q, and 4q that appear to contain genes triggering the onset of inflammatory bowel disease. The study confirms the role of previously localized gene IBD1 in concert with another disease gene on chromosome 1.
Researchers discovered a gene linked to hydrocephalus and glaucoma in mice, which is also associated with other birth defects. The gene, called mouse forkhead 1 (mf1), produces an incomplete protein that can cause abnormalities in the brain, eyes, and kidneys.
A study in fruit flies reveals a molecular pathway that regulates sensitivity to alcohol, shedding light on why some people are more prone to becoming alcoholics. The researchers hope to find similar genes in humans and link them to alcoholic behaviors.
Scientists identify a common gene family responsible for generating rhythmic electrical impulses in both the brain and heart. This discovery could lead to the development of screening tests and therapeutic applications for cardiac and neurological disorders.
Researchers have identified genes that enable plants to produce epoxy and acetylenic fatty acids, key components in the production of polymers and specialty chemicals. This breakthrough could lead to the development of new, high-value products from plant-based raw materials.
A mutated tumor suppressor gene has been identified as the cause of familial juvenile polyposis, a disorder affecting about 1 in 100,000 people. The discovery may provide insights into colorectal cancer diagnosis and treatment.
Researchers at the Max Planck Institute for Biophysical Chemistry generated mice with no functional Pax8 protein, which develop hypothyroidism due to a defect in thyroid hormone production. The study suggests that Pax8 plays a crucial role in forming thyroxin-producing cells of the thyroid gland.
Researchers at UCSF have identified nine genetic mutations in the P4501 alpha gene that cause hereditary vitamin D-dependent rickets, a condition affecting bone growth and development. The discovery enables prenatal diagnosis and genetic testing of adults to identify carriers of the mutated gene.
Researchers at Johns Hopkins Bloomberg School of Public Health found a significant link between GST gene variations and breast cancer risk. The study suggests that testing for these genetic mutations may help prevent breast cancer in women with the variants by advising them to avoid certain environmental cancer risk factors.
Researchers at UNC-CH and Washington University found that only 3.3% of white patients carry the BRCA1 mutation, significantly lower than previous estimates. The study suggests that widespread screening is not warranted due to high costs and limited interpretability.
A recent study published in JAMA found that only 3.3% of white women and 0% of black women with breast cancer had disease-related BRCA1 mutations. The researchers conclude that widespread screening is not necessary for the general American population, but may be beneficial for high-risk families.
A team of researchers has identified a defective gene, DFNA15, that causes progressive hearing loss in an Israeli family. The gene was pinpointed using a mouse model and is crucial for normal development of mouse hearing.
Scientists have mapped a defective gene responsible for hereditary amyotrophic lateral sclerosis (ALS) to chromosome 9, bringing closer the isolation of the gene and potential treatment options. The gene is suspected to be linked to similar neurodegenerative disorders, with symptoms appearing in childhood but never being fatal.
Researchers found that the immune system targets unwanted invaders by introducing mutations in genetic material, increasing antibody diversity. The study identifies Pms2 enzyme as key player in hypermutation process, which may contribute to cancer growth.