Articles tagged with Human Genetics
Researchers at Boston Children's Hospital identified a genetic cause of severe obesity in mice with the Mrap2 gene mutation, which also affects humans. The study found that these individuals gained weight even on a controlled diet, highlighting a new understanding of metabolism and energy regulation.
Researchers evaluated past H7 subtype influenza viruses among mammals and birds, comparing them to other avian influenza viruses. While none have caused a human pandemic since 1918, some adapted to infect horses, raising concerns about potential adaptation to humans.
Researchers at University of Chicago Medical Center discovered a new layer of complexity in human gene expression, finding a single gene that encodes two separate proteins from the same mRNA sequence. This discovery could lead to a therapy for spinocerebellar ataxia type-6 (SCA6), a neurodegenerative disease.
Research reveals FAM190A's subtle but crucial role in mitosis, a process commonly disrupted in cancer. Mutations in the gene may contribute to chromosomal instability and cancer development.
A new UCSF study has identified thousands of previously unknown RNA molecules outside genes that are more likely associated with inherited disease risks. The research highlights the potential importance of non-gene DNA regions in human biology.
A study has found that human and canine B-cell lymphoma expression profiles are similar, providing a new model for understanding the disease. This discovery may facilitate faster development of new therapies for both humans and dogs with lymphoma.
A research team at Bigelow Laboratory for Ocean Sciences has developed a new genetic tool to analyze microbial life in oceans. They found that marine microbes are adapted to very narrow and specialized niches, utilizing diverse energy sources and displaying genomic streamlining.
The new technique allows scientists to study protein function in individual cell types in a living organism, providing deeper insights into protein function. The approach uses nonsense-mediated decay (NMD) to restrict knockdown to a single cell type, giving complete control of gene expression.
A study published in PLOS ONE suggests that Mesolithic humans transported banded wood snails from southern France to Ireland, based on genetically identical snails found in both regions. The research provides insight into the ancient human migration patterns and their impact on the local ecosystem.
Researchers identified a genetic translocation that can precipitate disease in adenoid cystic carcinoma, with many disease-associated mutations occurring in genes modifying DNA. Identifying individual mutations will aid in the development of personalized therapy, according to accompanying commentary.
A new article in Proceedings of the National Academy of Sciences refutes a theory that modern humans settled in southern Asia before the Mount Toba eruption. The research uses mitochondrial DNA evidence and other data to conclude that modern humans arrived in India no earlier than 60,000 years ago.
Researchers have found that interferon-beta treatment significantly improves the physical condition of animal models of spinocerebellar ataxia 7, a fatal genetic disorder characterized by coordination problems. The treatment reduces the load of mutant ataxin-7 and leads to increased PML nuclear bodies involved in protein degradation.
Researchers at Cold Spring Harbor Laboratory discovered critical differences between human Argonaute proteins, including a single amino acid change in hAgo1 that enables it to act as a slicer. The study highlights the importance of protein regions beyond the active site in determining activity.
Researchers at UC Irvine have discovered that circadian rhythms play a crucial role in the body's immune response to intestinal infections. The study suggests that targeting treatments that supplement the power of the body clock could be an effective approach to treating bacterial pathogens like salmonella.
Researchers found that Shigella uses a biological 'RNA thermometer' to monitor its environment and produce the necessary protein for survival. At body temperature, the thermometer melts away, allowing the bacterium to synthesize the ShuA protein needed for iron acquisition.
A new report highlights the challenges of collecting DNA for human rights purposes, such as protecting victims of human trafficking. The authors propose multiple approaches and solutions to combat this issue, including collaboration among government authorities, law enforcement, social services, academics, and victim advocates.
Chuan He has been selected as an HHMI investigator to uncover the mechanisms of reversible RNA methylation. His research team will use genomics tools and expertise in various biology fields to explore this new area.
Stem cells use a process called nonrandom chromosome segregation to divide into different cell types, suggesting that distinct genetic information on the chromosome copies may underlie this diversification. The study used fruit fly stem cells to demonstrate this ability and sheds light on how cells develop into complex organisms.
Researchers at Massachusetts General Hospital have identified a gene variant that predicts weight loss after gastric bypass surgery. The variant, located on chromosome 15, is associated with an average weight loss of nearly 40% in individuals who carry two copies of the beneficial version.
Researchers have identified genetic factors behind nearsightedness, a condition characterized by an eye that is too long or the cornea has too much curvature. The SCO2 gene plays a crucial role in regulating copper and oxygen levels in eye tissue.
Physiology's enduring relevancy is highlighted through Dr. Joyner's research on complex bodily functions like blood pressure and blood flow during exercise. The redundancy in human systems complicates genetic explanations for diseases, leading to a comeback of multi-directional thinking in physiology
A genetic analysis of the avian flu virus reveals it is evolving to adapt to human cells, allowing it to efficiently infect humans. The study found that the virus can grow in human cells at a lower temperature than birds, posing a significant risk to human health.
The study reveals that varying genetic information copies affect cell tolerance to cancer medication and antibiotics. This discovery may help explain differences in organism responses to environmental changes and certain medications' side effects on sperm and eggs.
Researchers discovered genetic changes enabling H5N1 bird flu to replicate in mammalian noses, paving the way for more effective vaccines against human transmission. The findings suggest that specific mutations can mediate the spread of bird flu between humans.
For the first time, scientists have demystified a key step in human DNA replication by discovering how a sliding clamp loads onto DNA. The research reveals that a clamp loader quickly removes the clamp from DNA when polymerase is absent, allowing the polymerase to capture and complete the assembly of the holoenzyme.
Researchers at Northwestern University identified a viral protein, VP1/2, that allows herpesvirus to interact with cellular motors and speed through the nervous system. This breakthrough enables the virus to move unobstructed from skin nerves to neuron nuclei, outcompeting most other viruses.
Two new species of mouse lemurs have been identified by Duke University scientists, one named Anosy mouse lemur and the other Marohita mouse lemur. The genetic analysis reveals that these species are distinct and do not interbreed with other recognized mouse lemur species.
Researchers found 21 genomic regions with a 'signature' for both inflammatory disease susceptibility and natural selection. These variants rose in frequency to help protect humans against viruses and bacteria, but now increase the risk of autoimmune diseases like multiple sclerosis and rheumatoid arthritis.
AgedBrainSYSBIO assembles 14 international research teams to tackle ageing and cognitive decline using GWAS, comparative genomics, and protein-protein interactions. The project aims to identify druggable targets for preventing and curing age-related diseases.
Scientists have cracked the genetic code of bacteria linked to periodontitis, a disease marked by inflammation and infection of the teeth's supporting ligaments and bones. The unique genetic code allows SR1 bacteria to introduce a glycine amino acid, limiting gene exchange with other bacteria.
Researchers expose laboratory-grown human skin to intense THz radiation and detect DNA damage markers. They also observe increases in tumor-suppressing proteins facilitating DNA repair.
A recent study discovered a gene responsible for obesity in mice, and deleting it eliminated obesity even on high-fat diets. The researchers believe this may be replicated in humans using existing technology targeting the specific gene.
Researchers have achieved a major advance in understanding genetic information transcription from DNA to RNA, illuminating critical molecular interactions during the step-by-step process. The study provides new insights into how proteins work together to ensure accurate loading of DNA into Pol II at the start of a gene sequence.
Research on ancient human skeletons reveals negative changes in oral bacteria due to dietary shifts, including the introduction of farming and processed sugar. The study provides a new record of dietary impacts and health changes over time.
Early humans lost hair to efficiently sweat away heat, later using decorative methods like tattooing and makeup to increase attractiveness. Researchers found evidence of early skin decoration through fossil records and molecular genetics.
Researchers have found six regions of the genome where humans and chimpanzees share identical genetic variants, suggesting that these traits date back to a common ancestor. This study highlights the importance of balancing selection in maintaining genetic variation and fending off infectious disease.
A team of researchers created an animal model of recent human evolution, revealing a single mutation that produced several traits common in East Asian peoples. The study found that the mutation arose around 30,000 years ago in central China and is linked to thicker hair, denser sweat glands, and other skin features.
Researchers used an animal model and whole-genome sequence data to identify hundreds of gene variants that potentially helped humans adapt to changing environmental conditions. The findings provide a road map for understanding human biological history and modern-day variability, including traits like resistance to infectious diseases.
Researchers at USC have identified two molecular signaling pathways that control the formation of head and face structures, shedding light on certain birth defects. The study used time-lapse photography to study organ development at the single-cell level in zebrafish embryos, providing insights into human health and disease.
Scientists at Max Planck Institute for Molecular Genetics discovered a recurring pattern of over 13,000 epigenetic alterations in young mouse tumours, which is partly conserved in human colon carcinoma. This finding may facilitate the identification of novel clinical colon cancer biomarkers for early detection.
Scientists have generated a mouse model with a genetic mutation causing CoQ10 deficiency, which can lead to severe neuromuscular diseases. The mutated mice exhibit rapid degeneration in the lower limbs and are expected to be a valuable tool for studying and developing treatments for metabolic encephalopathies.
Researchers at MIT have developed a new type of vaccine-delivery film that gradually releases DNA coding for viral proteins, potentially overcoming safety risks and improving effectiveness. The film is implanted under the skin using microneedles and degrades over time, releasing the vaccine over days or weeks.
A study of ancient DNA from a 40,000-year-old human from Tianyuan Cave near Beijing found that the individual shared a common origin with present-day Asians and Native Americans. The genetic profile also revealed that this early modern human diverged genetically from present-day Europeans and did not carry a larger proportion of Neande...
Researchers found that the critical transcription factor TFIID can co-exist in two distinct structural states, enabling recognition and binding to DNA sequences. This discovery provides new insight into gene expression regulation, a process crucial for growth, development, health, and survival of all organisms.
Researchers found that stem cell transplantation significantly extended the lifespan of mice with ALS by 20 days and improved their neuromuscular function by 15 percent. This breakthrough study suggests that stem cells may represent a promising avenue for effective cell-based treatment for ALS and other neurodegenerative diseases.
Scientists have developed a software model called TreeMix that compares genetic variants across populations to infer history of population splits and mixtures. This new approach reveals complex relationships among human populations, including interbreeding with wolves in dog breeds.
Researchers found a human gene associated with the presence of Prevotella bacteria in the gut, which could have implications for treating diseases like Crohn's. The study suggests that genetic variations may influence the makeup of the gut microbiota.
A study on Arabidopsis thaliana reveals its genetic diversity can help crops adapt to environmental stresses. Dr. Sarah Assmann explores the plant's ability to tolerate climate change, drought, and poor soils.
A University of Alberta researcher's findings may rewrite the history of humanity's migration out of Africa. The study uncovered fossils, artifacts, and evidence of continuous human occupation in the region dating back at least 200,000 years.
Michigan State University researchers have identified a unique protein that regulates cell growth and controls excessive cell proliferation. The study focuses on Retinoblastoma tumor suppressor proteins, which use controlled destruction to perform their jobs, highlighting new potential ways to treat cancer.
Researchers found that chromatin, a protein complex, regulates genes in the liver to sync with circadian cycles. The study suggests connections between dietary schedules and chronic diseases, such as high blood sugar and cholesterol.
Researchers analyzed microbial DNA in 252 stool samples to catalog genetic variation, finding over 10 million single-letter changes in collective DNA. The data could aid understanding of how human genes interact with microbes to maintain health or cause disease.
The Genographic Project has launched a new phase, utilizing advanced genetic technology to explore human migration patterns. Participants can learn about their migratory history, regional affiliations, and even Neanderthal or Denisovan ancestry.
Researchers developed a new method to create long-lived stem cells for bone replacement by inserting human telomerase into mesenchymal stem cells. This allows the stem cells to retain their ability to become bone cells and divide repeatedly, making them suitable for tissue engineering applications.
Researchers discovered that modern humans first settled in Sicily around the time of the last ice age, with a diet consisting mainly of terrestrial animals. Genetic analysis revealed the peopling of Sicily occurred at 19,000-26,500 years ago, when sea levels were low enough to expose a land bridge.
Stowers Institute researchers unveil role of MLL3 and MLL4 genes, frequently mutated in certain cancers. The study sheds light on the misregulated mechanism governing histone interactions, which may play a crucial role in cancer pathogenesis.
A new genomic analysis of pigs reveals similarities with humans in terms of adaptability and susceptibility to domestication. The study also found differences between European and Asian breeds, supporting the independent domestication of pigs in western Eurasia and East Asia.
Scientists have discovered a new method for identifying genes in animals, which could increase genetic information by 70-80%. This technique allows for direct observation of genes and proteins, enabling more efficient study of animal diseases and viruses.
Researchers at The Scripps Research Institute identify a new pathway regulated by HDAC4 that plays a major role in information processing. This discovery offers insight into how imbalances in this pathway contribute to cognitive abnormalities in humans.
CWRU's Maxwell J. Mehlman examines the emerging issues in genetic engineering, balancing innovation with caution. The book discusses the potential for evolutionary engineering, which allows parents to form the next generation by altering reproductive cells to remove disease risks.