Articles tagged with Human Genetics
Researchers have discovered a 100-kilobase segment of DNA missing from the agouti signaling protein (ASIP) gene in gibbons. The ASIP gene plays a role in lipid metabolism and energy homeostasis, but its deletion may have helped gibbons adapt to arboreal niches. Future studies will examine the physiological effects of this deletion.
A DNA gene vaccine successfully reduced amyloid-beta 42 protein buildup in the brains of mice with a genetic mutation associated with Alzheimer's disease. The vaccine elicited high levels of antibodies and significantly decreased brain plaques, offering a promising therapeutic option for the disease.
A study by Duke University researchers found that prenatal exposure to genistein, an active ingredient in soy, reduced obesity in Agouti mice offspring. The findings suggest a link between early life nutrition and long-term health outcomes, and may have implications for human health.
A UCR-led study identifies RNA silencing as a key innate immunity mechanism protecting fruit flies from viral infections. The research reveals the molecular basis of this antiviral response and suggests potential implications for understanding human antiviral defenses.
A recent study has outlined the genetic differences between two potential pandemic influenza strains of H5N1, revealing increased genetic diversity and a higher risk of human transmission. The research found that the viruses belong to genotype Z, with one strain being more virulent than others.
Scientists find gene regulation plays a key role in human-chimp differences, with rapid changes occurring in transcription factors over 5 million years. These changes may be linked to dietary shifts and cooking habits, enabling humans to thrive in new environments.
Scientists found that changes in transcription factor genes, which control expression of other genes, played a key role in human evolution. The study suggests that rapid adaptations to changing environments, such as the use of cooked food, drove these changes.
Researchers found that humans lost genes related to the sense of smell, bitter taste, and immune response, which may have improved our ability to fight infections. The loss of the CASPASE12 gene, in particular, led to a stronger immune response, but also made it harder for humans to fight off severe bacterial infections.
A study at the University of Texas M. D. Anderson Cancer Center found that Z-DNA, a twisted shape of DNA, can cause genetic instability and breaks in human cells, particularly in those with Burkitt's lymphoma. The research opens up a new field of inquiry into the role of DNA shape in genomic instability and cancer.
Researchers identified a specific set of genes expressed differently in individuals with eosinophilic esophagitis (EE), a chronic disease causing inflammation in the esophagus. The study found that eotaxin-3 levels were significantly higher in EE patients, suggesting potential therapeutic targets.
A recent study using genetic data demonstrates a drastic decline of orang-utan populations on the island of Borneo, coinciding with colonial powers' arrival and accelerated timber extraction. The research highlights the urgent need for conservation efforts to protect the species.
A recent study has found that human and chimp molecular evolution rates are surprisingly similar, indicating that certain human-specific traits such as generation time may have evolved only one million years ago. This slowdown in the molecular clock correlates with a longer generation time, which is also characteristic of humans.
Researchers found two sequences in Gli1 protein that prevent its degradation, leading to accelerated tumorigenesis and shorter tumor latency. This discovery may represent a novel anticancer therapy by modulating Gli protein stability.
Researchers discovered a single mutation in human TRIM5 gene that impairs its ability to defend against retroviruses, including HIV. This mutation occurs at high frequency in some ethnic groups and may have contributed to the evolution of impaired retroviral defense genes.
A new study has challenged previous reports that cannibalism played a significant role in shaping the human genome. The research, published in Genome Research, found a deficit of intermediate frequency variants in the PRNP gene, suggesting a complex history of episodic or fluctuating selection.
Scientists have identified the DNA sequence controlling the malaria parasite's ability to change its disguises, a key virulence factor. This breakthrough could lead to the design of a drug candidate molecule that freezes the parasite's disguise capability, allowing the human immune system to respond effectively.
Researchers have identified a genetic factor leading to forehead and frontal bone malformations, which can cause severe craniofacial defects. A potential therapy using FGF supplements may help prevent these defects in embryos with missing TGF-beta genes.
Researchers found that deleting or over-expressing the lin-4 microRNA in C. elegans worm resulted in a shorter or longer lifespan, respectively. This study suggests an intrinsic biological clock regulates both organ development and aging.
A study found a significant association between high EL concentrations, low HDL-C levels, and early stages of atherosclerosis. This suggests that EL concentrations may be useful in predicting an individual's risk for atherosclerosis.
Researchers analyzed genes and developed new statistical technique to estimate divergence time. They found that humans and chimpanzees likely shared a common ancestor between 5-7 million years ago, with a maximum limit of approximately 7 million years ago.
Researchers discovered a distinctive variant of the prodynorphin gene in humans, which increases production of neuropeptide prodynorphin. This variant is linked to increased brain size, memory, perception, and sensitivity to pain, as well as potential risks for drug addiction, schizophrenia, and bipolar disorders.
Researchers have successfully sequenced the canine genome, revealing genetic similarities with humans that could help identify disease-causing genes. The breed-specific sequencing project aims to develop new cancer treatments by identifying genetic changes in individual dog breeds.
STAT proteins play a key role in regulating gene expression by phosphorylating specific sequences, leading to transcriptional activation. This process is essential for various cellular processes, including proliferation and differentiation.
Researchers found that human cells without securin protein can recover from widespread chromosome losses over time, suggesting compensatory mechanisms at play. This discovery has implications for cancer treatment, as mathematical models often assume cell populations cannot recover from chromosomal instability.
A study on the Platynereis genome reveals that early animals had complex human-like genes, contradicting previous assumptions. The discovery sheds new light on human evolution and highlights the importance of preserving ancient genetic features.
Recent research findings on avian flu provide critical insight into the origin of pandemic influenza, highlighting two possible mechanisms: direct transmission from birds to humans or reassortment with human strains. This knowledge can help scientists track virus adaptation and inform global surveillance efforts and vaccine development.
A 'Perception' gene tracked by scientists suggests regulation of this gene played a crucial role in the evolution of modern humans' mental capacity. The gene, prodynorphin, is implicated in pain perception, social attachment, learning and memory.
Researchers identified the DCDC2 gene as a significant contributor to dyslexia, disrupting brain circuitry that enables reading. The study's findings have the potential to lead to early and accurate diagnoses, as well as more effective educational programs for individuals with dyslexia.
A DNA vaccine could be a powerful tool to combat the 'bird flu' pandemic, potentially produced in as little as two or three weeks. The technique is largely untested in humans, but it might help slow the spread of the disease if enough conventional vaccines aren't available.
A recent study by Yale University researchers has discovered a gene that controls the severity of asthma, finding that high production variants of the macrophage migration inhibitory factor (MIF) gene are associated with severe disease. The study used mice models and human data to support an important role for MIF in asthma pathogenesis.
The study highlights the complex interplay between genetic and environmental factors in determining human aging. While there is no single gene responsible for aging, genetics account for approximately 25% of how a person ages, with stress, environment, nutrition, lifestyle, and immunity also playing significant roles.
Two genes, microcephalin and ASPM, linked to brain size have continued to evolve rapidly in humans over the past 37,000 and 5,800 years, respectively. These genetic variants are favored by natural selection and occur more frequently in certain populations.
Recent studies suggest that major variants in genes Microcephalin and ASPM are evolving under strong natural selection in modern human populations. These genetic changes may have emerged as a result of cultural evolution and the spread of agriculture and written language, coinciding with key milestones in human history.
Researchers found that human Y chromosome retained its genes despite chimp's mutation, likely due to human monogamy. The study suggests natural selection preserved regions of the Y with self-repair mechanisms.
The chimpanzee genome's remarkable closeness to the human genome will make it a powerful tool for comparative genetics. The analysis reveals genetic changes that prompted the chimp-human species divergence and provides insight into how evolution has continued since then.
Researchers found that large-scale segmental duplications account for 2.7% of the human genome, while single base-pair changes make up only 1.2%. These duplication events have altered gene expression, with some segments implicated in human developmental disorders such as spinal muscular atrophy and Prader-Willi syndrome.
Researchers at UCSD advocate for standardized, humane guidelines for studying captive great apes, emphasizing the need for specialized care and data management. They propose a national network of facilities to support this effort, which could contribute to the survival of great ape species.
A recent archaeological comparison of genetic traits indicates that Moche sacrificial victims were not local elite, but rather warriors captured from nearby valleys. This finding suggests territorial conflict and competition among Moche populations in each valley.
Researchers at Joslin Diabetes Center have identified a new gene, ARNT, that plays a crucial role in the development of type 2 diabetes. The study, which used DNA chips to analyze islet cells from patients with the disease, found a marked down-regulation of ARNT, suggesting a possible new target for treatment.
Researchers have achieved a cure for haemophilia in dogs using gene transfer strategies. The study identified key problems to overcome before applying this approach in humans, including mode of delivery.
The study found age-related changes in gene expression in the human brain's cortex, but not in non-brain tissues. The results support a theory that DNA damage and protein degradation contribute to aging, with more metabolically active tissues showing greater gene activity reduction.
The UT Southwestern team will study how human cells respond to ionizing radiation in outer space, which can cause DNA damage leading to cancer. The research project aims to improve shielding material for spacecrafts and design safer spacesuits.
Researchers found that over half of the 46 known microRNAs are essential for development, affecting it in specific ways. MicroRNAs regulate fundamental processes such as body patterning, morphogenesis, and nervous system development.
A new promoter map has been created to understand how genes are controlled in fibroblasts, providing a framework for analysis of genetic control in other human cell types. The researchers discovered multiple promoters controlling single genes in parallel and found new DNA sequences not previously recognized as genes.
Researchers found that genetic manipulation of the fruitless gene in females led to classic male sexual behavior patterns, including courtship dances. The study suggests a strong biological basis for sexual behavior and orientation in animal species.
Researchers generated human skin tissue with cancer-associated genes to study melanoma development. They found that specific gene combinations, such as Ras and hTERT, induced invasive melanoma growth in human tissue.
Researchers have identified a new mechanism of resistance to CMV, involving the interaction between two genes that flag infected cells for destruction and allow Natural Killer cells to recognize and terminate them. This discovery increases the likelihood of therapies being developed to fight CMV.
Scientists have discovered that human cells use RNA silencing to defend against HIV, a phenomenon previously unknown in mammals. The discovery of a novel siRNA sequence that targets the HIV protein Tat may lead to the development of new RNAi-based drugs to combat the virus.
A comparative genetic study by Cornell University researchers found that some genetic mutations in human sperm cells may allow them to avoid early death and reproduce, but also increase the risk of cancer. The study suggests that these mutations could have led to a positive selection advantage, making humans more prone to cancer.
Research suggests that embryonic nutrition can impact health outcomes, with adaptations set in place during fetal development potentially leading to benefits later in life. For example, meadow voles have coats thickened or thinned based on day length exposure in early pregnancy, with no immediate survival value but later benefits.
Researchers have identified a previously unknown quality control station in RNA synthesis that checks NTP loading to maintain accuracy. This discovery has significant implications for understanding cancer, viral infections, and normal human development.
Researchers at UCSD map yeast gene circuitry to predict new functions and identify disease-causing combinations. The technique, which uses synthetic lethal interactions, could be applied to humans to develop more sophisticated drugs and gene therapies.
An international team has determined the complete genetic blueprint of Dictyostelium discoideum, a simple social amoeba long used by researchers to gain insight into human diseases. The genome contains nearly twice as many protein coding genes as previously thought and provides a new tool for studying human disease.
A study published in Developmental Cell identifies two genes, HES-1 and HLF, that regulate human blood stem cell behavior. These genes enhance cell-cycle progression and inhibit premature cell death in hematopoietic stem cells.
A new study using microarray technology has identified genes that distinguish between non-metastatic and highly metastatic breast cancer tumors. The research, led by Dr. David Tarin, used cell lines with varying capabilities to spread to distant organs and found that several genes were altered in expression patterns between the two typ...
Researchers found a key gene, sec15, that plays a crucial role in brain wiring and cell contact choices. The study used sophisticated genetics to analyze the fruit fly brain, revealing aberrant wiring patterns and protein misplacement in neurons lacking sec15.
The Genographic Project is a five-year global study of human migratory history, analyzing genetic samples from indigenous peoples and public participants. Researchers will use markers encoded into DNA to trace lineages, unveiling new aspects of family trees that persist through genes.
Researchers found no causative mutations in MEF2A gene among patients with premature coronary heart disease. This challenges the role of MEF2A in causing CAD and suggests another genetic variant may be responsible.
Phytome is a comprehensive database of genetic data on 39 plant species, including rice, wheat, and potatoes. The platform enables researchers to analyze complex questions about gene function and comparison across different species.
Researchers at UT Southwestern Medical Center found that deleting the Pcsk9 gene in mice increased LDL receptors and lowered LDL cholesterol levels. This discovery suggests new drugs targeting PCSK9 may be effective in lowering LDL cholesterol levels, particularly for individuals unable to take statins.