Articles tagged with Human Genetics
A recent study published in Oncogene reveals that alterations in an intermediate molecule called RNA can lead to protein mutations without DNA damage. This discovery highlights the importance of RNA editing enzyme ADAR1 in regulating gene expression and contributing to tumor growth.
Researchers at Joslin Diabetes Center have identified a key liver protein that accelerates the growth of insulin-producing beta cells, a critical step in treating all forms of diabetes. The protein, serpinB1, was found to be highly expressed in liver cells and boosted beta cell proliferation in human and mouse islets.
Researchers at UT Health Science Center discover how poxviruses outsmart the body's immune system by targeting a key restriction factor called SAMD9. This finding has significant implications for cancer treatment and therapy, as SAMD9 also suppresses tumors.
A Rutgers study links a protein in sperm to its counterpart in roundworms, providing clues to human infertility. The discovery could lead to more effective treatments and better contraceptives.
The Unified Microbiome Initiative aims to study the planet's least understood ecosystems, with potential breakthroughs in medicine, agriculture and environmental science. New genomic tools have linked microbes to various health issues, including obesity and brain development.
Researchers discovered unique gene variants that protect against neurodegenerative diseases in older adults, preserving their valuable contributions to society. These protective genes are present in Africa and evolved to help preserve elderly wisdom and cultural knowledge.
A comprehensive genomic study of turtle shells has identified unique adaptations in genes that control hard cutaneous layers, dating back to the evolution of claws and feathers. The study also reveals a shared genetic organization between turtles and humans, highlighting the common ancestry of these defense mechanisms.
A recent study by the University of Chicago has found that loneliness triggers fight-or-flight stress signaling, leading to increased production of white blood cells and impaired antiviral responses. This shift in monocyte output contributes to loneliness' associated health risks, including premature death.
Researchers at Kumamoto University have successfully connected iPS-derived kidney cells to a capillary network, enabling the formation of a functional filtration membrane. This breakthrough has significant implications for regenerative medicine and organ transplantation, particularly for patients with renal failure.
A collaborative team of researchers identified over 100 genes crucial for high-altitude adaptation in fruit flies, including more than 40 human equivalents. These genes prioritize respiratory system development and metabolic rewiring, enabling organisms to thrive in low-oxygen environments.
Researchers discovered human brains exhibit greater plasticity and adaptability than chimpanzee brains. Human brain organization is less influenced by genetics compared to chimpanzees, suggesting a strong role for environmental factors in shaping the human cerebral structure.
Research finds men carrying ApoE4 gene suffer more tiny brain bleeds and memory loss than women with similar diagnoses. The study provides new insights into the effects of ApoE4 on Alzheimer's disease in humans.
Michihisa Umetani, a University of Houston professor, has won a $5,000 grant from the Neuron-Genetics Institute to further research into hereditary spastic paraplegia type 5A. The prize will help him and his team investigate the role of 27-hydroxycholesterol in human physiology and disease.
Researchers at USC and Sangamo BioSciences have developed a more efficient method for editing genes in blood-forming stem cells (HSPCs), which could potentially treat diseases such as HIV and other blood disorders. By combining two delivery methods, the team achieved unprecedented efficiency rates ranging from 15 to 40 percent.
A team of researchers has developed a C. elegans worm model with mutations that cause Retinitis pigmentosa, a rare blindness subtype affecting over 1 million people worldwide. The study reveals the disease's specificity in the retina and proposes a new hypothesis based on genomic instability.
Researchers at the University of Pennsylvania School of Medicine used state-of-the-art techniques to survey the skin's virus population, or virome. Most DNA viruses on healthy human skin are viral 'dark matter' with never been described before.
Researchers have identified 1,450 genes linked to ageing, as well as a connection between these genes and lifestyle factors. The study found that individuals with a biological age older than their actual age are more likely to have conditions such as high blood pressure or cholesterol.
Researchers discovered evidence of plague infections in humans 4,800 years ago using DNA sequencing from ancient tooth samples. The Yersinia pestis lineage is believed to have acquired key virulence genes around 3,700-3,000 years ago, allowing it to spread via fleas.
Rutgers Genetics Research Center has been awarded a five-year grant to provide comprehensive stem-cell related services, including iPSC derivation and quality control. The new grant will enhance access to high-quality stem cells for researchers investigating Parkinson's, ALS, and Huntington's diseases.
A study of fossil species on Great Abaco Island reveals that humans were more significant a threat to island biodiversity than climate change. The discovery highlights the impact of human activities such as habitat alteration and introduction of invasive species, which can lead to rapid extinctions.
Researchers have identified the protein Panoramix, which enables cells to silence specific genes and prevent transposons from disrupting genomes. This discovery provides new insights into the innate defense mechanisms against genetic elements that can cause sterility in animals.
A study published in PLOS Medicine identified genetic ablation of P2RX7 as a promising approach to treating Duchenne muscular dystrophy, improving muscle structure, strength, and reducing cognitive impairment and bone loss. The findings suggest that P2RX7 antagonists may also reduce certain DMD phenotypes.
Researchers at Baylor College of Medicine studied tiny DNA minicircles containing only 336 base pairs to understand biologically active DNA. They found that the coiling caused many different shapes, including sharp bends and figure-8s, and showed how these structures facilitate DNA interactions with proteins and anticancer drugs.
A new grant from the NIH will support the creation of a national chimpanzee brain resource at GW University, providing access to tissue samples, MRI scans, and data for scientists. The resource aims to promote further study of chimpanzee brains for future generations.
New research reveals the three-dimensional structure of supercoiled DNA, showing it forms multiple shapes, including figure-8s and handcuffs. The study challenges the traditional Watson-Crick double helix structure, suggesting a dynamic nature that helps explain how a meter of DNA can fit in a human cell.
Scientists have identified microbes that produce methylmercury, a highly toxic form of mercury, in environments such as coastal sediments, marshes, and rice paddies. The discovery builds on previous work and highlights the risk of increased methylmercury production due to climate change.
Researchers identified a common genetic variant associated with aneuploidy, a condition causing chromosome gains and losses during embryonic development. The variant was found to be strongly linked to early pregnancy loss and IVF treatment failure.
Research reveals that human activities, particularly deforestation and fires, are driving genetic differentiation among the Udzungwa red colobus monkey in Tanzania. The study's findings suggest that these changes are threatening the species' survival, as smaller populations become isolated and more susceptible to extinction.
Researchers have discovered a new gene locus that explains why some African children develop severe malaria while others do not. The genetic variant, found in Kenyan children, reduces the risk of severe malaria by about 40% and lies within a region of the genome shared with chimpanzees.
The American Society for Cell Biology announced the winners of the 2015 Kaluza Prizes, recognizing outstanding graduate student bioscience research. Ten young scientists received cash and travel awards for their contributions to cell biology.
Researchers successfully silenced genes in human cells to induce immunity against the parasitic disease caused by E. histolytica, which affects 50 million people worldwide. The study identified key genes involved in managing potassium flow into and out of human cells, paving the way for new drug targets.
A highly detailed model of mouse brain connections may provide new insights into mental illnesses such as depression and schizophrenia. The study used diffusion MRI scans to create a 3D digital map of the brain's circuitry, exceeding previous resolution by 1,000 times.
An international research team has identified a novel gene, EN1, associated with osteoporosis and bone mineral density. The study used extensive genetic data from the UK10K project to uncover a genetic variant near EN1 with the strongest effect on BMD and fracture.
Researchers from UC Davis developed a novel sensor coating material using nanoporous gold to detect nucleic acids in complex biological samples. The method enables sensitive detection of DNA without requiring purification, enabling faster and more efficient process for field applications.
Scientists from Karolinska Institutet have identified 32 genes that are switched on within two days of fertilization, marking a significant breakthrough in understanding early embryonic development. The study's findings also reveal the importance of 'junk DNA' in regulating gene expression.
A research team used ancient-DNA analysis and radiocarbon dating to reconstruct population histories for prehistoric seabirds in New Zealand. They found that mainland populations were rapidly decimated after human arrival, while Stewart Island populations remained relatively stable due to a decline in human numbers.
Research found that oysters serve as a major reservoir for noroviruses, with over 80% of human norovirus genotypes detected in oyster samples. This highlights the importance of surveillance and safe handling of oysters to prevent transmission.
Scientists have identified 18 proteins crucial to the transformation of fungal spores into disease-causing yeast, offering hope for preventative treatments. By blocking these proteins, researchers aim to prevent the spread of meningitis and other fungal diseases.
A University of Queensland scientist cautions against shark culling, citing challenges in managing populations and predicting long-term ecological impact. The expert's research uses DNA analysis to estimate shark numbers and predict population trends.
Researchers at MIT and Harvard Medical School discovered a new pathway that controls human metabolism by prompting adipocytes to store or burn fat. The study identified two master controllers of thermogenesis, IRX3 and IRX5, which turn off fat storage genes and restore energy balance.
Researchers found that lager yeast, used in 94% of beer production, originated from the accidental hybridization of Saccharomyces cerevisiae and S. eubayanus yeasts around 500 years ago. The study reveals how these natural processes led to the development of a yeast that could thrive in cold temperatures.
Researchers at the University of Basel used computational models to describe human memory processes for the first time. The study identified specific genetic profiles underlying distinct mental processes, such as learning and memory storage.
Researchers find daily changes in specific brain neurons help regulate biological clocks and aid transitions to different seasons. The study identifies a protein driving these rhythms, Rho1, and highlights its connection to spinocerebellar ataxia.
Researchers have identified two gene variants on chromosomes 15 and 8 associated with earlier- or later-than-expected symptom onset in Huntington's disease patients. The findings suggest that these variants may influence the disease process prior to symptoms appear, offering new potential therapeutic strategies.
Scientists at Van Andel Research Institute have unraveled the molecular mechanism of TOPLESS, a plant protein that interacts with other molecules to regulate gene silencing. This discovery provides insights into similar pathways in humans and has significant implications for understanding diseases such as cancer.
A new study using ancient DNA and paleoclimate data found that rapid warming events played a greater role in the extinction of megafauna than human activity. The researchers analyzed DNA records over 50,000 years and compared them to climate event records from Greenland ice cores.
A UGA study found that salmonella levels in freshwater sources across Georgia pose a significant risk to human health. The research team discovered that strains of salmonella exhibit geographic trends, with higher rates found in south Georgia and wildlife carriers like raccoons and opossums contributing to the problem.
A 13-year study found that humans are the biggest threat to Southern California mountain lions, causing over half of known deaths. The population's declining genetic diversity is exacerbated by an interstate highway that bisects their habitat.
Researchers at MIT have created sensors, memory switches, and circuits that can be encoded in the common human gut bacterium Bacteroides thetaiotaomicron. These basic computing elements will allow the bacteria to sense, memorize, and respond to signals in the gut.
A new checkpoint enzyme, Plk1, has been discovered to play a crucial role in monitoring chromosome segregation during cell division. This finding may provide important clues for the development of new cancer treatments.
A team of scientists studied the genetic basis of human olfaction and reconstructed the sensory world of our distant ancestors. They found that different populations have varying abilities to detect specific smells, with some populations being more sensitive than others.
A team of researchers has discovered a link between acute liver failure and mutations in the NBAS gene, which affects cellular transport processes. The study found that these mutations can disrupt protein packing and transport within cells, leading to metabolic imbalances in the liver.
Researchers found that up to 20% of a mosquito population's genome is subject to evolutionary pressures, leading to local adaptation and potential resistance to pesticides. The study provides insights into the contemporary evolution of mosquitoes and informs strategies to control populations.
Researchers analyzed DNA from a 40,000-year-old jawbone from Romania and found that six to nine percent of the person's genome came from Neandertals. This shows that some of the first modern humans in Europe mixed with local Neandertals around this time.
Researchers at UT Austin found a surprising link between cross-shaped DNA structures and human cancer, with small cruciforms enabling mutations that increase cancer risk. High-performance computing helped identify hotspots of genetic instability in cancer genomes.
A survey of 34 couples found that those with siblings from the same donor preferred to use the same donor for subsequent conceptions due to a desire for genetic bonds and improved sibling relations. However, some couples prioritized the genetic link between mother and child over full sibling relationships.
Researchers have identified a gene, PRDM8, linked to early loss of night vision in animal models. Gene therapy for Leber's congenital amaurosis shows promising results, but temporary improvements are seen.
A new study reveals that clinical and genetic factors affecting warfarin dose vary by race, highlighting the need for race-specific dosing equations to improve anticoagulation control. The research team found that gene variants may have different effects on dose across racial groups, particularly among African Americans.
The study, published in the American Journal of Human Genetics, used 225 human genome sequences from Egyptians and Ethiopians to determine the most likely route of human migration out of Africa. The research found that Egypt was the primary gateway for humans migrating north, supporting a northern route rather than a southern one.
Scientists have identified a gene variant in wild chimpanzees that encodes an HIV-fighting protein, suggesting that hominids have been fighting off HIV-like viruses for at least five million years. The discovery could yield insights into biological and pharmaceutical applications to enhance HIV-infected people's survival.