Articles tagged with Gene Families
A Johns Hopkins-led team of researchers has identified a rare genetic cause of autism, which may also be linked to other complex genetic conditions. The study used a novel approach that focused on families severely affected by autism to pinpoint the CTNND2 gene as a potential culprit.
Researchers estimated that by age 80, CDH1 mutation carriers have a 70% chance of developing gastric cancer and a 42% risk of breast cancer. The study provides more precise estimates for carriers of the CDH1 gene mutation, a cancer predisposing gene associated with hereditary diffuse gastric cancer.
A UT Arlington team developed a new model for snake venom evolution, suggesting that venom genes evolved independently in distinct lineages of reptiles. The study found similar expression levels of venom gene families in python oral glands and brain tissue, challenging the traditional view of a core venom system developing first.
The mouse Y chromosome is a surprisingly large and complex biological entity, with two categories of genes: ancestral and acquired. The mouse Y retains only 9 of its 639 ancestral genes, but has acquired and amplified over 700 new genes through intrachromosomal recombination and sex-linked meiotic drive.
A recent study identifies rare variants in the APOB gene in families with exceptional longevity, highlighting its potential role in lipid transport and cholesterol metabolism. The findings suggest that genetic factors influencing lipid metabolism may contribute to human longevity.
Researchers have uncovered three gene networks in autism that could lead to new treatments for attention-deficit hyperactivity disorder (ADHD) and schizophrenia. The networks, which affect neurotransmitter signaling, may also provide insights into the biological mechanisms underlying autism.
A new tool called pVAAST combines linkage analysis with case control association to identify disease-causing mutations in families, increasing the power to find gene variations that cause disease. By sequencing family genomes, researchers can pinpoint the gene responsible for a particular illness.
Researchers identify CLP1 as a cause of a rare neurological disorder affecting brain development and peripheral nerves, leading to cell death in neural progenitor cells. The study reveals a new mechanism involving tRNA biogenesis, which explains the disorder's symptoms.
A new software tool, Phevor, has been developed to identify disease-causing gene mutations in undiagnosed illnesses by analyzing exomes of individual patients and small families. The tool has successfully identified diseases with unknown gene mutations in three separate cases.
The study of crab diversity has led to a new dataset with DNA and mitochondrial sequences from 140 species and 58 families. Freshwater crabs have two independent origins, separated from marine relatives after Pangaea's break-up.
Researchers at Karolinska Institutet have identified a new gene, GRHL3, responsible for the most common form of cleft lip and palate syndrome, Van der Woude syndrome. The study found that mutations in GRHL3 may be associated with an increased risk of clefts in non-syndromic cases.
A Fox Chase Cancer Center study found that relatives of patients who undergo genetic testing often misinterpret the results, with over one-quarter reporting incorrect interpretations. This can lead to a lack of understanding about their own genetic risks and missed opportunities for cancer prevention.
Researchers have identified two rare gene variants in the phospholipase-D 3 gene (PLD3) that double an individual's risk of developing late-onset Alzheimer's disease. The study found that these variants were present in affected family members but not in healthy elderly relatives, suggesting a significant role in disease development.
Researchers used a genomic sequencing approach to evaluate all 24 genes implicated in breast cancer in women with normal BRCA genes. The study found that over 25% of these patients carried cancer-predisposing mutations in genes other than BRCA1 or BRCA2.
Researchers identify genetic mutations in two families with eating disorders, correlated with reduced estrogen-related receptor alpha activity. Mutations also reduce expression of known ERRSA-dependent genes, increasing risk of developing eating disorders.
Researchers have identified two genes that increase the risk of developing eating disorders, including anorexia nervosa and bulimia. The genes, ESRRA and HDAC4, interact in a brain signaling pathway and produce the same biological effect, suggesting a new potential target for understanding and treating the complex condition.
Researchers found that positive selection often act on residues adjacent to critical active sites, allowing for the acquisition of new functions without disrupting native folding structure. This mechanism may be a general pathway for functional diversification of enzyme families.
Researchers identified mutations in two genes involved in cellular metabolism as the cause of a rare syndrome characterized by reproductive failure, cerebellar ataxia, and dementia. The study found that blocking either gene had similar effects on brain development, suggesting they operate in a common pathway.
Scientists have identified a human gene, ITGA5, that becomes more active after sleep deprivation, offering a potential new marker for detecting sleep loss. The discovery was made through cross-translational research with fruit flies, which allowed the researchers to identify genes in humans and then test them in flies.
Research suggests that fainting, also known as vasovagal syncope, may have a genetic component, with some families affected by multiple genes. Triggers such as emotional distress, pain, and frightening thoughts vary greatly within families, but the study found no link between triggers and genetic inheritance.
Researchers have created a numeric model of the chromosome that supports experimental data and provides a hypothesis on the bundle's function. The model identifies regions with specific genes, contradicting the chaotic view of the chromosome as a randomly entangled thread.
Researchers at Mayo Clinic discovered the first dystonia gene linked to an African-American family, paving the way for improved diagnosis and treatment. The study identified a genetic abnormality that led to muscle spasms and abnormal posture in affected individuals.
A study has identified variations in four genes associated with an increased risk of colorectal cancer. Carrying one or two copies of these genetic variants increases the risk by 10-40% compared to those without the variants.
A Johns Hopkins study identified a rare gene mutation in a single family with a high rate of schizophrenia, suggesting that abnormal genes play a role in the disease. The researchers found that the mutated gene led to abnormal activity and brain cell abnormalities.
The first genomic sequence of Chinese plum (Prunus mume) has been completed, providing a valuable resource for improving fruit trees. The genome sequence reveals important genetic information for understanding the evolution and diversity of Rosaceae family.
A Canadian Mennonite family of Dutch-German-Russian ancestry has contributed to the identification of the DNAJC13 gene associated with late-onset Lewy body Parkinson's disease, according to UBC researchers. The study provides new insights into the genetic aspects of PD and offers hope for effective treatments and a cure.
A new mouse model reveals that abnormal heart cell development during embryogenesis may be responsible for congenital heart disease. The study suggests that genetic mutations, such as the GATA4 mutation, can lead to underdevelopment of heart walls and septal defects.
Researchers identified C5ORF42 as the gene causing Joubert Syndrome in French Canadian families in the Lower St. Lawrence region of Quebec. The study, published in The American Journal of Human Genetics, provides a genetic basis for the syndrome and allows family members to assess their children's genetic risks with a simple DNA test.
Scientists from Max Planck Institute discover pod corn's unique trait is caused by a damaged transcription factor controlling glume growth. The mutated gene leads to glumes resembling leaf sheaths and kernels covered in fine membranous husks.
Researchers identified 27 genetic variants in 19 genes associated with brain aneurysms, including collagen 5-A2 linked to Ehlers-Danlos syndrome. Whole exome sequencing allowed for targeted screening of affected families, offering potential for personalized risk assessment and prevention strategies.
The study found rare variants in key Alzheimer's-related genes in 13% of analyzed samples, with 5% likely contributing to the disease. The findings suggest a common disease mechanism for both early- and late-onset Alzheimer's, leading to potential changes in classification.
Scientists have identified a gene mutation in the EZH2 gene that causes Weaver syndrome, a rare genetic disorder characterized by large size at birth and intellectual disability. This breakthrough discovery enables DNA-based diagnostic testing for the disease, providing definitive answers for families seeking a diagnosis.
Researchers have identified genetic variants in glutamate receptor genes that may contribute to attention-deficit/hyperactivity disorder (ADHD). The study found alterations in four genes involved in brain signaling pathways, which could lead to new treatment options for patients with ADHD who have these gene variants.
Researchers sequence the two-spotted spider mite's genome, revealing genes capable of detoxifying pesticides and plant toxins. This breakthrough sheds light on how these pests counteract plant defenses and provides new insights for developing targeted pesticides.
Researchers at McMaster University discovered that consuming generous amounts of fruit and raw vegetables can significantly weaken the effect of the 9p21 genetic variant, which increases the risk of heart disease. This study supports public health recommendations to consume more than five servings of fruits or vegetables daily.
Tiny alterations in genes can act as magnets for biochemical tags, switching off anti-cancer genes and increasing cancer susceptibility. The study found subtle changes near the start of genes attract methylation, causing cancer development in families without spelling mistakes.
A new gene, MAN1B1, has been identified as the cause of recessive intellectual disability in five families. The gene codes an enzyme involved in quality control functions in cells, leading to faulty proteins being released into the body.
Researchers studying mutant fruit flies with dNab2 mutations have found a link to intellectual disability (ID) in humans, particularly those affected by ZC3H14 gene mutations. The study suggests that the protein's role in regulating RNA length may be critical for brain cell function and learning.
A new study reveals that poverty's impact on children's cognitive abilities begins as early as 2 years old. Children from poorer families underperform in school and cognitive tasks compared to their wealthier peers, suggesting an environmental factor is suppressing their genetic potential. Further research aims to understand the specif...
A study of over 2,100 individuals with multiple sclerosis found that women were 1.4 times more likely to carry the HLA gene variant associated with MS than men. The researchers also discovered that women with this gene variant were more likely to pass it on to other women in their families.
A new molecular tool helps researchers understand the mechanism of RF genes, leading to rapid advancements in plant breeding. This unified nomenclature allows for easy comparison of unknown gene functions to known ones, improving hybrid technology.
A team of scientists at MIT has deciphered 3 billion-year-old genomic fossils using modern-day genomes. The study reveals that the collective genome of all life underwent an expansion between 3.3 and 2.8 billion years ago, resulting in 27% new gene families.
Researchers have identified a new agouti family gene that regulates pigmentation and body weight in fish. The protein enables fish to dramatically change color to match their environment, a phenomenon also observed in mammals such as the arctic hare.
Researchers developed new methods to probe the human genome's repetitive landscapes, detecting subtle variations that account for normal diversity among people. These copy number variations may also determine disease susceptibilities and severity.
Scientists combined new and classic approaches to identify a single genetic mutation causing metachondromatosis, a disorder characterized by bony growths. The study demonstrates the power of whole-genome sequencing technology in efficiently identifying genes responsible for Mendelian diseases.
Researchers identified a previously unknown genetic location on chromosome 2p causing familial focal segmental glomerulosclerosis (FSGS), a common cause of kidney failure worldwide. The discovery may provide clues to disease mechanisms and lead to identification of specific and less toxic therapies.
Researchers have identified two genes, LRRN3 and LRRTM3, associated with autistic spectrum disorders (ASD), providing valuable insights into the genetic basis of the condition. Variations in these genes were found to be significantly associated with susceptibility to ASD.
A gene family called Dishevelled has been found to direct the migration of cilia on an embryo's node cells, which is crucial for left-right symmetry breaking and organ positioning. The finding provides insights into how certain birth defects occur in humans.
Researchers have identified the TRAPPC9 gene as a potential cause of non-syndromic intellectual disabilities affecting up to 50% of individuals worldwide. The discovery sheds light on a new genetic factor in intellectual disabilities and paves the way for future research into diagnosis, prevention, and treatment.
Researchers have discovered how a 'genetic symphony' of genes affects plant development, enabling potential disease resistance and increased yields. The study found that combining different ACS genes regulates ethylene production, which impacts various aspects of plant growth.
The study found that S100A2 protein expression was reduced while p63 protein expression was increased, indicating their involvement in EC carcinogenesis. Combined expression of S100A2 and p63 may aid in early diagnosis and prognostication of ESCC.
Researchers have developed the first ever fly model for neuromuscular disease Charcot-Marie-Tooth by introducing mutant genes from human patients into fruit flies. The study reveals that fruit flies with the mutant YARS gene exhibit symptoms of CMT, including reduced movement and nerve cell degeneration.
The SLC25A38 gene is responsible for congenital sideroblastic anemia, a rare disease characterized by ringed sideroblasts in bone marrow. Researchers identified the causal mutation in zebra fish, showing its role in hemoglobin synthesis.
Researchers at UMMS discovered a new gene whose mutations cause familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder. The FUS/TLS gene mutation is estimated to account for 5 percent of inherited ALS cases and implicate defective pathways previously identified in other genetic forms of ALS.
A new gene mutation has been identified as a common cause of inherited ALS, affecting motor neurons in the central nervous system. This discovery is part of a national study led by Northwestern University, aiming to understand the triggers of motor neuron death and develop new treatments.
Researchers suspect a novel gene is causing restless legs syndrome in a large family study, with 30 relatives affected and 60% female prevalence. The discovery could lead to breakthroughs in understanding the disorder and developing new treatments.
A study by EPFL researchers found that a family of genes known as KRAB-ZFP plays a crucial role in regulating the brain's response to stress. Genetically altered mice lacking these genes exhibited increased anxiety and impaired cognitive function, highlighting the importance of epigenetic regulation in behavior.
Researchers sequenced the fungus's genome and compared gene expression in different stages to identify key genes involved in killing frogs. They hope this study will help combat the deadly chytrid fungus, which affects over 43% of frog species.
A genetic mutation in the VLDLR gene is implicated in quadrupedal locomotion in four families affected by Unertan syndrome. Despite shared DNA regions across chromosomes, distinct genes are responsible for the condition in each family.
A mutated gene has been discovered as the key behind epilepsy and mental retardation specific to women, thanks to new research at the University of Adelaide. The study found that women carry both a 'good' and 'bad' gene, while men only carry the bad gene, leading to the condition affecting only females.