X marks the spot: Vector insertion is viral specific
Researchers mapped where three retroviruses integrate into human DNA, finding unique patterns for each. This discovery has implications for better-engineered gene therapies and new HIV drugs.
Human Genetics
Articles tagged with Human Genetics
Growing new breed of vaccine-producing plants to fight human diseases worldwide
A new breed of vaccine-producing plants is being developed to combat global health issues, including cholera and diarrhea. The innovative technology uses minimal processing to yield heat-stable vaccines for oral delivery.
Researchers uncover surprising degree of large-scale variation in the human genome
A new study reveals surprising differences in the DNA of normal cells from different people, detecting 76 large-scale 'copy number polymorphisms' associated with various health conditions. The researchers used a powerful new DNA profiling technique called ROMA, which identified genes involved in neurological development and cancer.
Mapping the evolution of a virus
Researchers created a map of the influenza A (H3N2) virus's antigenic and genetic evolution from 1968 to 2003, revealing 11 closely related virus clusters. The approach will aid in monitoring antigenic differences among vaccine strains and predicting infection success of emerging viruses.
Asian bird flu became highly pathogenic through continued circulation and gene swapping
A study by St. Jude Children's Research Hospital found that Asian bird flu viruses, such as H5N1, became highly pathogenic through continued circulation and gene swapping in domestic ducks in southern China. The researchers warn that control of poultry outbreaks is crucial to prevent the virus from evolving into a human pandemic.
Gene alteration points to longevity, thinness
Researchers at the Medical College of Georgia have identified a gene called Indy that plays a critical role in delivering energy to cells, which may contribute to aging. By altering the activity level of this gene, they found that tiny worms lived longer and were thinner, raising hopes for potential human benefits.
Genetic modification in mice lowers cholesterol and homocysteine by half
Researchers genetically modified mice to lack the CT or PEMT pathways, resulting in significant reductions of lipoproteins and homocysteine levels. This suggests pharmacological inhibition of PC manufacture in the liver as a potential approach to lower LDL cholesterol and homocysteine levels.
Drunken worms reveal a genetic basis of alcohol response
Scientists have identified a genetic basis for alcohol response in roundworms, discovering that subtle variations in the NPR-1 gene affect tolerance. The study found that strains with higher levels of NPR-1 protein exhibit reduced ability to recover from alcohol exposure.
Annotation marathon validates 21,037 human genes
A large international consortium has successfully annotated over 21,037 human genes using publicly available resources. The study provides a reliable systematic network of human-curated relationships between genes and their biological functions, setting the standard for analysis of gene expression and human diseases worldwide.
Study offers new model for breast cancer
Researchers at Whitehead Institute have developed a new experimental model of human breast cancer in mice, allowing for the study of early stage development and tumor growth. The model involves grafting human breast tissue into mouse mammary glands, enabling the production of human breast milk and pre-cancerous tumors.
Evolution's twist
A USC study found that human ancestors developed meat-tolerant genes to resist diseases associated with a meat-rich diet, leading to slower aging and longer lifespan. However, the researchers argue that modern-day humans' sedentary lifestyle and lack of moderation may be contributing factors to high cholesterol and vascular disease.
Cross-species comparison reveals shared features between tumorigenesis and organogenesis
Researchers developed a novel method to compare genetic changes in developing mice with those in medulloblastoma, revealing common features with early developmental stages. This study provides a foundation for further research into tumor diagnosis and prognosis.
Refuting Neandertal ancestry
A team of scientists has analyzed the largest sample of Neandertal and early human remains, concluding that Neandertals could not have made a significant genetic contribution to early modern humans. The study's findings challenge the theory of interbreeding between Homo sapiens and Homo Neanderthalensis.
'Male-targeting' bacterium's genome is deciphered
Scientists have deciphered the genome of Wolbachia pientis wMel, a model bacterium that infects fruit flies. The study reveals the bacterium has accumulated more repetitive DNA than any other intracellular bacteria, with potential applications in developing new treatments for diseases such as dengue fever and lymphatic filariasis.
Key gene identified for development of inner-ear structure required for balance
Researchers identified a critical protein, NADPH oxidase 3 (Nox3), essential for otoconia development and balance. The discovery may aid in regenerating otoconia and treating balance-related disorders.
Rutgers researcher offers a new perspective on human evolution
Chiu presented her research on correlating gene changes with limb structure, a topic of interest to paleoanthropologists. By studying the mouse, she found that significant developmental differences are due to changes in gene regulation.
Genomic changes reveal evolution of SARS virus
Researchers analyzed 63 SARS viruses from three phases of the 2002-2003 epidemic and found significant genetic adaptations, including a rapid mutation rate and unique molecular fingerprints. The study suggests that containing outbreaks quickly is crucial before the virus becomes more difficult to control.
How the cellular 'garbage disposal' grinds to a halt to cause Batten disease
A team of researchers at the University of Rochester Medical Center discovered that a genetic defect affects lysosome protein arginine regulation, causing Batten disease. This condition leads to lysosomes malfunctioning and cells swelling with waste, ultimately killing brain cells and resulting in severe medical problems.
Human migration tracked in Stanford computer simulation
A team of researchers at Stanford University used a computer simulation to trace the origins of genetic mutations in human populations. By modeling population growth, migration, and mutation rates, they were able to estimate the location and time of origin for these genetic changes.
Rodents bred for alcohol preference live longer than rats bred for alcohol avoidance
Researchers discovered that rats bred to prefer alcohol were healthier and lived longer than those bred to avoid it, regardless of drinking habits. The study found that genetic factors, rather than alcohol consumption itself, contributed to the longevity difference.
Gene may be key to evolution of larger human brain
A study led by Bruce Lahn found that the Abnormal Spindle-Like Microcephaly Associated (ASPM) gene shows strong evidence of accelerated evolutionary changes in the primate lineage leading to humans. These changes are most prominent after humans parted ways from chimpanzees, suggesting a possible key role for ASPM in human brain evolution.
A pair of discoveries helps unravel complex genetics of inflammatory bowel disease
Researchers discover a variant of the NFKB1 gene associated with ulcerative colitis, a condition characterized by intestinal inflammation. Additionally, a second study links the MDR1 gene to Crohn's disease and possibly ulcerative colitis.
Stem cell gene therapy: selecting only the best
Researchers successfully transferred and expressed MGMT into relatively few hematopoietic stem cells using a lentivirus vector, enabling gene-corrected cells to repopulate the hematopoietic compartment. This breakthrough has significant implications for human clinical trials of gene therapy in bone marrow transplantation settings.
Researchers discover genes that distinguish human, nonhuman primate brains
The study found 83 genes with higher levels of activity in humans, linked to increased brain activity, while human brains showed increased expression of genes protecting against damage. This discovery may explain why humans have a long lifespan but are vulnerable to neurodegenerative diseases.
Zebrafish genetic research results in significant discovery for geobiologists
Researchers have identified a new gene in zebrafish that controls the formation of calcium carbonate crystals in otoliths, which are crucial for balance and sound perception. By manipulating this gene, scientists can create star-shaped crystals that alter the fish's balance and orientation.
Non-human molecule is absorbed by eating red meat according to study by UCSD researchers
Researchers at UCSD investigate human dietary absorption of a cell-surface molecular sugar called N-glycolylneuraminic acid (Neu5Gc), found in red meat. The study reveals that people absorb and metabolize small amounts of Neu5Gc, triggering an immune response.
Dartmouth bioengineers develop humanized yeast
Researchers at Dartmouth College and GlycoFi have developed a technology to produce human-like glycoprotein structures in yeast, offering improved quality and quantity of pharmaceutical proteins. This breakthrough has the potential to increase patient access to life-saving drug therapies by overcoming production capacity bottlenecks.
NIEHS study identifies gene for hydrocephalus in mice
A study by NIH/NIEHS has identified a mouse gene linked to hydrocephalus, a common birth defect. The research team cloned the defective gene, which affects cerebrospinal fluid drainage, and found it causes classic symptoms of hydrocephalus in mice.
New study rebuts claims about Icelandic genetic heterogeneity
Researchers from deCODE Genetics and the University of Oxford found that genetic drift, not admixture, has shaped Iceland's gene pool. The study suggests that small effective population size and relative isolation have contributed to Iceland's unique genetic characteristics.
Researchers identify new cause of genomic instability
Researchers found that loss of <i>H2AX</i> gene leads to increased genomic instability and cancer in mice. The study suggests that <i>H2AX</i> deficiency may be a major player in cancer-causing genomic instability, particularly in the context of human tumors with alterations in chromosome 11.
Cadmium studies suggest new pathway to human cancer
Researchers discover cadmium inhibits DNA repair mechanisms, leading to dramatic mutations and increased cancer risk in humans. Environmental exposure to cadmium may cause genetic damage through this novel pathway.
U of Minnesota leads effort to break impasse over GMO safety
The University of Minnesota is leading a new initiative to create standardized safety protocols for genetically modified organisms (GMOs) in the agricultural biotechnology industry. This effort aims to address concerns about GMO safety and reduce regulatory stalemates.
Scientists use DNA fragments to trace the migration of modern humans
A new study reveals that modern humans originated from a small ancestral population in sub-Saharan Africa, with genetic splits occurring between hunter-gatherer populations and African farming people around 70,000-140,000 years ago. This finding supports the 'out-of-Africa' theory and provides insights into human migration patterns.
Tob or Not To Be: Role of tob gene in cancer investigated
The tob gene is a newly characterized tumor suppressor that prevents cell proliferation by constraining the cell growth cycle. Tob-deficient mice develop various spontaneous tumors, including liver cancer, at a significantly higher rate than normal mice.
GenoMyc binding
Researchers have identified Myc binding sites using different experimental approaches in Drosophila and human cells. The findings suggest that Myc regulates a large portion of both the fly and human genome, altering previous views on its activity and interactions.
TSRI scientists show that rare genetic mutations increase susceptibility to sepsis
TSRI scientists have identified rare genetic mutations in the TLR4 gene that increase susceptibility to meningococcal sepsis, a devastating disease with a 12% case fatality rate. The study suggests that individuals with these mutations may be protected from severe sepsis through prophylactic treatment.
Dartmouth engineers closer to mass-producing therapeutic proteins
Researchers at Dartmouth College have made a breakthrough in producing human therapeutics using a yeast-based protein expression system. By genetically engineering the yeast P. pastoris, they can now produce fully-humanized proteins with complex glycosylation structures.
Novel method identifies 'hidden' genes
A novel computational method, MiRscan, has been developed to estimate the total number of miRNA genes in different animals. The researchers used this tool to identify 88 miRNA genes in C. elegans and estimated that miRNA genes comprise nearly one percent of the human genome.
Genome of a major member of gut bacteria sequenced
A comprehensive analysis of Bacteroides thetaiotaomicron reveals its ability to process nutrients and forge a beneficial alliance with its host, providing new insights into human physiology and potential therapeutic strategies.
Integration of nanotechnology with biology and medicine will result in major medical advances
Functional nanoparticles are being developed for molecular imaging, cancer treatment, and tissue engineering. Scientists can engineer nanoparticles to have multiple functions, including tagging proteins or genetic sequences in a process called multiplexing.
How humans lost their scents
A study found that 54% of human olfactory receptor genes are impaired, compared to 28-36% in other primates. The decline of the sense of smell likely occurred within an 'evolutionary moment' 3-5 million years ago.
Are we mice or men? Gene mutation linked to improving heart failure in mice proves lethal in humans
A gene mutation that improves heart failure in mice is fatal in humans, highlighting the need for human-specific studies. Researchers found that inhibiting PLN gene in mice restored impaired calcium signaling and muscle contraction, but led to lethal heart failure in humans.
Mutants from a lowly weed may solve maladies
Researchers are using Arabidopsis plant mutants to study salt stress in plants and potential connections to HIV research. Mutants with altered genes have been identified, offering insights into the mechanisms behind these complex conditions.
Perlegen scientists find genetic basis for difference between humans and non-human primates
Researchers found significant genomic rearrangements in human and non-human primate DNA, suggesting a new source of variation between species. These findings may provide insights into human health and disease, and could inform targeted investigations of gene expression differences.
On the nose
A new USC study suggests that humans lost the ability to detect pheromones due to a gene essential for vomeronasal organ function. The study found that mutations in this gene occurred around 40 million years ago, leading to the disappearance of the gene and subsequent loss of vomeronasal organ function in primates.
U of MN researchers develop first reliable diagnostic test for myotonic muscular dystrophy type 2
Researchers at the University of Minnesota developed a reliable diagnostic test for myotonic muscular dystrophy type 2 (DM2), revealing it occurs in many families of Northern European ancestry. The new test uses DNA amplification and verification to detect the disease, addressing difficulties in correct diagnosis.
The human eye can self-correct some optical faults
Researchers at Cornell University found that the human eye can compensate for certain types of optical faults, such as corneal astigmatism and high-order aberrations. The study used wavefront analysis to measure deviations in the eye's optics and found evidence of internal compensation mechanisms.
Genetics may help solve mysteries of human evolution
A professor at Stanford University suggests a genetic mutation triggered modern human behavior, contradicting the majority of anthropologists. Genetic analysis of the foxp2 gene supports his theory, suggesting it evolved around 50,000 years ago.
Genetic heterogeneity of Icelanders
A recent study reveals that Icelanders are more genetically diverse than previously thought, with higher rates of nucleotide differences and population admixture. This contradicts earlier claims of genetic homogeneity, which were largely based on flawed data and errors in publicly accessible databases.
Concern over misclassification and inappropriate treatment of people with eating disorders
Eating disorders are a significant cause of physical and psychosocial illness in adolescent girls and young adult women, with limited research on anorexia nervosa and atypical eating disorders. The authors call for targeted research on the interaction of genetic and environmental processes to improve treatment outcomes.
Essay on genes and behavior prompts culture clash in academic journal
Stanford biologists Paul R. Ehrlich and Marcus W. Feldman critique genetic determinism in their essay, arguing that human behavior is shaped by environmental factors rather than genes. They also challenge the concept of heritability, pointing out its limitations in predicting human behaviors.
Researchers achieve germline transmission of 'gene knockdown' in mice
Scientists have achieved germline transmission of 'gene knockdown' in mice by using genetic engineering to create mouse embryonic stem cells targeted with RNAi. This enables the manipulation of gene activity in specific tissues and allows for switching on and off at any time during development or adulthood.
Masatoshi Nei of Penn State honored in Japan with International Prize for Biology
Nei's work has developed statistical methods to study genetic diversity, evolutionary relationships, and species divergence. He pioneered the neighbor-joining method for constructing phylogenetic trees, widely used worldwide.
Scientists make a BID towards understanding chronic myelomonocytic leukemia
Scientists have discovered that BID protein plays a crucial role in regulating apoptosis of myeloid cells, which are prone to developing CMML. In mice genetically engineered to lack BID, researchers found an overexpansion of myeloid cells leading to leukemia, highlighting potential tumor suppression roles for other BH3-only proteins.
Data presented on first cloned, double knock-out miniature swine
Scientists have successfully cloned the world's first double knock-out miniature swine, eliminating a major hurdle in xenotransplantation research. The genetically modified pigs lack the gene GGTA1, which triggers an immune response against pig organs.
UCSF study of ancient fly gene offers insights into male fertility
A study by UCSF researchers reveals that the human gene BOULE regulates meiosis in sperm development, a key step in creating sperm and eggs. The finding has significant implications for understanding infertility and developing new treatments, including drugs to assist immature sperm cells or block sperm maturation.
It may take a mouse to understand the behavior of 'jumping genes'
Researchers developed a mouse model to study L1 retrotransposition, a process that can cause mutations in genes. The study found that the mouse model mimics human L1 behavior and could aid in understanding how genes function and potentially lead to genetic therapies.
Rutgers and Albert Einstein College of Medicine researchers seek fountain of youth among the worms
Scientists at Rutgers and Albert Einstein College of Medicine investigate C. elegans worm model to understand age-related muscle deterioration. They find a key enzyme involved in this process, which could lead to novel therapeutic strategies for sarcopenia in humans.
Deciphering the genetic basis of the mosquito’s senses
A team of researchers from Vanderbilt University identified 276 genes in the Anopheles gambiae genome that code for G-protein-coupled receptors essential to the mosquito's senses. The study found 79 genes involved in its sense of smell and 72 in its taste, shedding light on the insect's strong preference for human hosts.
Of mice and men
Researchers found that human cells use RalGEFs as primary effectors of Ras-mediated tumorigenesis, unlike in rodents. This discovery highlights the need for caution in using mice to model human disease and opens new avenues for cancer therapy targeting.