New lung-cancer gene found
Cancer biologists have pinpointed a gene that drives progression of small cell lung cancer, an aggressive form of lung cancer. Researchers found the gene to be overexpressed in both mouse and human lung tumors.
Human Genetics
Articles tagged with Human Genetics
A mutation in a protein-sorting gene is linked with Parkinson's disease
Researchers identified a pathogenic mutation in the VPS35 gene associated with late-onset Parkinson's disease, implicating a novel protein-recycling pathway in neurodegeneration. The study provides new insights into the disease's pathogenesis and highlights the potential for therapeutic intervention.
New elegant technique used for genomic archaeology
Researchers developed a new technique to analyze whole genomes from different populations, revealing continued genetic exchange between African and non-African populations after 60,000 years ago. The study provides fresh insights into human history from 10,000 to one million years ago.
New method for making human-based gelatin
Scientists have created a new approach for producing large quantities of human-derived gelatin, potentially replacing up to 300,000 tons of animal-based gelatin. The novel method involves inserting human gelatin genes into yeast, allowing for controllable features and scalability for commercial use.
New research shows forest trees remember their roots
Researchers found that genetically identical trees grew differently in response to drought conditions depending on their nursery origin. This study reveals a form of molecular 'memory' where trees retain information about their past experiences, influencing their behavior in the environment.
New genetic clues for schizophrenia
Researchers found that de novo mutations, genetic errors present in patients but not their parents, are more common in schizophrenic patients. This discovery may help define how the disease results from these mutations and develop new treatments.
Pigeons never forget a face
Researchers found that pigeons can recognize individual people using facial characteristics, even when wearing different clothing. This ability is likely an adaptation to their long association with humans, enabling them to distinguish between individuals.
Alzheimer's prevention in your pantry
Researchers discovered a compound in cinnamon bark that can inhibit the development of Alzheimer's disease. The extract, called CEppt, slows down the progression of the disease and breaks up toxic amyloid fibers in the brain.
Deep history of coconuts decoded
Researchers discovered two distinct populations of coconuts, indicating separate cultivation origins in the Pacific and Indian Ocean basins. The study also found evidence of prehistoric trade routes and the colonization of the Americas through coconut genetics.
Synthetic collagen from maize has human properties
Researchers have successfully produced synthetic collagen in maize with similar levels of proline hydroxylation to human collagen. This breakthrough enables the production of a protein with human-like modifications, making it suitable for various applications in reconstructive and cosmetic surgery, as well as the food industry.
Non-independent mutations present new path to evolutionary success
Researchers found that about three percent of new mutations are 'multi-nucleotide mutations,' which may allow organisms to leap across fitness valleys and reach a higher-fitness state by acquiring multiple mutations simultaneously. The study provides evidence for a possible new mechanism of adaptation.
Malaria risk reduced by genetic predisposition for cell suicide
A human genetic variant associated with a 30% reduced risk of developing severe malaria has been identified. The FAS locus variant can prevent excessive immune responses in infected children, reducing the severity of the disease.
Lack of 'gatekeeper' protein linked to skin cancer
A 'gatekeeper' protein called C/EBP alpha plays a crucial role in preventing DNA damage and skin cancer. Its absence is linked to human skin cancers, including breast and colon cancer, and may also play a role in tumor suppression.
JCI online early table of contents: May 16, 2011
Researchers have identified a stem cell population that can reverse nerve cell loss in individuals with Parkinson disease. Protein-based human induced pluripotent stem (iPS) cells were found to efficiently generate functional dopamine neurons and treat a rat model of the disease. These findings suggest a potential new treatment approac...
2 unsuspected proteins may hold the key to creating artificial chromosomes
Researchers discover CENP-C and CENP-T proteins, which are essential for kinetochore assembly and can potentially overcome the current obstacle of outfitting artificial chromosomes with kinetochores. This finding could lead to new genetic research tools and efficient creation of artificial human chromosomes.
Worm studies shed light on human cancers
Researchers discovered a worm protein controlling growth factor secretion, which is linked to human cancers. The study proposes that abnormal growth factor secretion may stimulate cancer formation and offers a potential targeted treatment approach.
Marine organisms with eternal life can solve the riddle of aging
Scientists at the University of Gothenburg have discovered how certain sea squirts can activate telomerase, an enzyme that protects DNA, leading to exceptional health. These organisms also have a unique ability to discard 'junk' from their cells, which helps maintain their youthful state.
Evolution points to genes involved in birth timing
Researchers found that variations in the follicle stimulating hormone receptor (FSHR) gene may increase a woman's risk for delivering her infant prematurely. The study suggests that human gestation has been pushed to shorter times due to evolutionary changes, which could lead to new targets for therapeutic or preventive measures.
Getting to the root of fatty liver disease
A new study has identified a molecular switch, TBL1, that appears to be a common feature in the development of fatty liver disease. The discovery is consistent with data from human patients and suggests an underlying explanation for the condition.
Progress toward the clinical application of autologous induced pluripotent stem cells and gene repair therapy for treatment of familial hypercholesterolemia
Researchers successfully reprogrammed diseased human hepatocytes into induced pluripotent stem cells, offering a potentially unlimited source for liver disease treatment. This breakthrough could enable the generation of genetically corrected liver cells via auto-transplantation, avoiding liver transplants and immunosuppression.
2011 HFSP Nakasone Award for Michael Elowitz of Caltech
Michael Elowitz was awarded the 2011 HFSP Nakasone Award for his groundbreaking research on genetic noise, a concept that has transformed our understanding of cellular behavior. His work has shown that noise is not just a random variation but an essential element that enables core cellular functions.
Differences in mammalian brain structure and genitalia linked to specific DNA regions in new study
Researchers identified 510 genetic regions highly conserved among chimpanzees and other mammals but missing in humans. These deletions are linked to specific anatomical changes unique to the human lineage, including reduced tactile sensitivity and increased brain size.
Novel mechanism for control of gene expression revealed
Researchers at Boston University School of Medicine have identified a novel mechanism for controlling gene expression, which is evolutionarily conserved in humans. This process, called transcriptional attenuation, involves the blocking of premature termination complexes to allow genes to be expressed under certain stress conditions.
WSU study may lead to greater understanding of human genome regulation
A WSU study aims to uncover the role of RNAi in X chromosome recognition, which could improve our understanding of gene regulation in humans and lead to new medical interventions for diseases like cancer and developmental abnormalities.
New research suggests that obesity and diabetes are a downside of human evolution
A new genetic discovery suggests that the loss of function in a human-specific gene called CMAH may contribute to the development of Type 2 diabetes. The study found that mice with this gene mutation developed insulin resistance and pancreatic beta cell failure, leading to decreased insulin production and impaired blood glucose control.
Missing sugar molecule raises diabetes risk in humans
Researchers found that humans can't produce a specific sialic acid molecule, leading to insulin and glucose metabolism problems. This discovery suggests evolutionary changes may have influenced human metabolism and increased diabetes risk.
Figuring out fetal alcohol syndrome in fruit flies
Researchers used fruit flies to study fetal alcohol syndrome, finding that prenatal alcohol exposure can cause developmental problems such as intellectual disabilities and abnormal facial features. The study establishes a new model system for studying FAS, which may lead to the development of new therapies.
The most genes in an animal? Tiny crustacean holds the record
The freshwater crustacean Daphnia pulex has been found to have the most genes in an animal, with approximately 31,000 genes. This discovery was made possible by the sequencing of its genome and provides unprecedented insights into how an organism's genome interacts with its environment.
Genetic study uncovers new path to Polynesia
A new genetic study has found that the DNA of current Polynesians can be traced back to migrants from the Asian mainland who settled in islands close to New Guinea around 6,000 years ago. The research challenges previous theories on human migration, suggesting a 'voyaging corridor' between Southeast Asia and the Pacific
Multiple genome sequencing yields detailed map of structural variants behind our genetic differences
The Boston College bioinformatics lab has created a detailed map of genomic structural variants, a layer of DNA that distinguishes individuals. This analysis of 185 human genomes supports the 1000 Genomes Project and provides new insights into genetic selection, variations, and disease susceptibility.
In tiny fruit flies, researchers identify metabolic 'switch' that links normal growth to cancer
In a study published in Cell Metabolism, researchers discovered a genetic switch called dERR that supports cell division and proliferation in growing fruit flies. This switch is controlled by a nuclear receptor and transcription factor similar to human ERRs, which are associated with breast cancer.
When 2 rights make a wrong: Combating childhood heart disease
A new study has identified seven genes that cause heterotaxy, a condition leading to severe congenital heart disease. The research found that children with this condition have a higher burden of copy number variations (CNVs) on their genomes, which also affect frog models.
Orangutan DNA more diverse than human's, remarkably stable through the ages
The study reveals that orangutan DNA is more diverse than humans, with a unique genetic stability that has remained unchanged for 15 million years. The researchers found deep diversity in both Bornean and Sumatran orangutans, which can aid conservation efforts and inform studies of human evolution.
Long-term hypoxia in flies shown to result in permanent DNA changes
Researchers found specific DNA regions, including those related to the Notch pathway, responsible for hypoxia resistance in flies. Gain-of-function mutations resulted in over-expression of the Notch domain and increased hypoxia tolerance.
Roundworm unlocks pancreatic cancer pathway
A team of researchers has made a discovery about how the Ras oncogene chooses a signaling pathway and its consequences in cellular development, a key issue in cancer. The study used a common roundworm, C. elegans, to identify the critical events leading to pancreatic cancer.
UF study of lice DNA shows humans first wore clothes 170,000 years ago
A University of Florida study using lice DNA sequencing found that modern humans started wearing clothes around 70,000 years before migrating into colder climates. The research suggests that clothing played a crucial role in human evolution and survival.
Malfunctioning gene associated with Lou Gehrig's disease leads to nerve-cell death in mice
Researchers have discovered how a malfunctioning gene associated with Lou Gehrig's disease leads to nerve-cell death in mice. The study found that the gene, TDP-43, causes neurons to die when it is bound up outside the nucleus and depletes the cell of normally functioning TDP-43.
Hair color of unknown offenders is no longer a secret
Researchers have discovered that DNA can accurately predict a person's hair color, including red, black, blond, and brown, with accuracy rates of over 90%, 80% and 70-80%. The new DNA approach allows for differentiation between similar hair colors.
Fossil finger bone yields genome of a previously unknown human relative
A 30,000-year-old finger bone found in Siberia yielded a complete Denisovan genome sequence, showing the extinct group was a sister group to Neanderthals and had interbred with ancestors of modern Melanesians. The discovery provides new insights into human evolution and migration out of Africa.
What sex are you?
A team of researchers has determined that overexpression of the Sox3 gene in mice causes frequent XX male sex reversal. Genomic rearrangements in the human SOX3 gene have been found in three patients with XX male sex reversal, suggesting a significant cause for this condition.
A possible cause -- and cure -- for genital cancer in horses?
Researchers have identified a novel type of papillomavirus, EcPV-2, linked to equine genital cancer. The virus is closely related to human genital cancers and its presence in affected horses suggests a potential cause and cure.
Humans helped vultures colonize the Canary Islands
Genetic comparison reveals Egyptian vulture population in Canary Islands was established around 2500 years ago, matching human colonization date. Human activity led to divergent evolution and demographic expansion of vultures, assisted in their adaptation to new environment.
Stem cell advance a step forward for treatment of brain diseases
Researchers at the University of Rochester Medical Center have created a way to isolate pure preparations of neural stem cells directly from human brain tissue. This breakthrough technique saves months of time and labor in the laboratory, allowing scientists to study stem cells in unprecedented detail. The findings suggest that human n...
UNC team discovers a mechanistic link between genetic variation and risk of cardiovascular disease
Researchers found that common genetic variants near aging-related genes influence the production of circular RNAs, which control INK4/ARF gene expression and risk of diseases like heart attack and stroke. Individuals with more of these circular forms have increased INK4/ARF gene expression.
ISU researcher, collaborators, re-sequence 6 corn varieties, find some genes missing
Researchers have re-sequenced six elite corn varieties, discovering over 100 genes that are present in some but not others. This presence/absence variation could be crucial to understanding heterosis and producing better hybrids.
FDA review on transgenic salmon too narrow
A team of researchers argues that FDA's current review process for transgenic salmon fails to consider the full impact on human health and environment. Experts call for a broader assessment of safety, including market impacts and environmental effects.
New research from Psychological Science
Researchers discovered that when a person's personality matches the prevalent personalities of others in a culture, it enhances positive effects on self-esteem and well-being. Additionally, social threats induce bodily freeze-like behavior in humans, while cultural differences in spatial representations affect time perception.
Human-specific evolution in battling bugs and building babies
Researchers identified significant qualitative differences in human and chimpanzee natural killer cell receptors, shaped by human-specific evolution. These distinctions affect the ability to fight infections like HIV/AIDS and malaria, as well as reproductive processes.
MARC travel awards announced for the 2010 American Society of Human Genetics annual meeting
The Federation of American Societies for Experimental Biology (FASEB) has awarded 7 MARC travel grants totaling $12,950 to support underrepresented minority students and postdoctorates at the 2010 ASHG Annual Meeting. The awards promote diversity in biomedical research and encourage young scientists' participation.
60 Utahns are among landmark large-scale genome sequencing study
A large-scale genome sequencing project involving 179 people from three continents has confirmed earlier work on genetic mutations and identified new gene mutations that occur often enough to be considered common in humans. The study also discovered new mobile elements, DNA sequences that randomly reshuffle in the genome.
MicroRNAs dictate the Epstein-Barr virus' elaborate waiting game, cancer formation
Scientists discover how EBV uses microRNA to create an elaborate timing mechanism, allowing it to hide within cells and evade the immune system. Removing this mechanism could enable physicians to flush EBV out of hiding and allow a healthy immune system to rid the body of the virus.
Genetics work could lead to advances in fertility for women
Researchers have identified key genes controlling reproductive lifespan in roundworms, which may lead to the development of fertility-preserving treatments for women. The study's findings suggest that quality over quantity is a limiting factor in human reproduction, and that similar genes are shared between humans and worms.
Of worms and women: Common causes for reproductive decline with age
Researchers found that worms and humans have similar genetic mechanisms controlling reproductive aging, which can inform fertility preservation therapies. Oocytes in both species degrade functionally and morphologically with age, but TGF-?? Sma/Mab and insulin/IGF-1 signaling pathways delay aging by maintaining oocyte quality.
Reproductive health: Checkerboard of infertility treatment in Europe
A patchwork of reproductive health regulations across Europe hinders access to medically assisted reproduction (MAR) treatments. Many patients resort to seeking care abroad due to limited availability and reimbursement policies.
Mice with human body's defenses
Researchers generated mice with a human immune system using human stem cells, allowing them to produce human monoclonal antibodies. This breakthrough could simplify the study and treatment of diseases.
Genetic alteration linked with human male infertility
Researchers discovered a genetic alteration in the NR5A1 gene that disrupts sperm production, accounting for approximately 4% of cases of unexplained male infertility. The study suggests that these mutations may indicate mild abnormalities in testicular development, highlighting the need for further clinical investigation.
Humanized mice may provide clues to better prevent and treat typhoid fever
Scientists have developed a laboratory model to study innovative approaches against typhoid fever in a living system. The 'humanized' mouse model enables researchers to test new treatments before testing them on people.
CRP genetic variants crucial in interpreting inflammatory disease activity
A study by Timothy Vyse and colleagues found that common CRP genetic variants are associated with acute-phase serum CRP concentrations in patients with rheumatoid arthritis. This association may influence therapeutic decision making and lead to improved clinical interpretation of inflammatory disease activity.
Researchers identify genetic marker of aggressive Alzheimer's disease
A genetic marker linked to elevated tau levels in cerebrospinal fluid predicts rapid progression of Alzheimer's disease. The marker is associated with higher tau levels and more severe dementia in patients, offering new insights into the disease's progression.
OU study on genetics in fruit flies leads to new method for understanding brain function
University of Oklahoma researchers have developed a new method for understanding brain function in humans, leveraging advances in genetic techniques to manipulate small subsets of brain cells. This breakthrough has significant implications for studies of human neurological diseases, including Alzheimer's and Parkinson's disease.