Articles tagged with Human Genetics
Mycobacterium tuberculosis originated in Africa at least 70,000 years ago. The bacteria have a strikingly close genetic match with humans, suggesting a long history of co-evolution. This has led to the development of new strategies for disease control and may help predict future patterns of the disease.
A team of geneticists identified five different alleles in the Ethiopian population that cause adult lactase production, highlighting a soft selective sweep. This phenomenon allows individuals to digest milk via different mutations, increasing their chances of survival under scarce food conditions.
A new study finds Arrhythmogenic Right Ventricular Cardiomyopathy, a human heart disease, in chimpanzees. The condition was detected in two half-brother chimps who died suddenly during physical exertion at a UK zoo.
Researchers have made a breakthrough in genome editing technology, enabling precise control over genetic changes in fruit flies. The CRISPR RNA/Cas9 system allows for targeted mutations and gene expression manipulation, opening up new possibilities for studying human diseases and developing gene therapies.
Researchers at Whitehead Institute created mouse models of two neurodegenerative diseases that are fatal in humans. The highly accurate reproduction of disease pathology seen with these models should advance the study of prion diseases, including Creutzfeldt-Jakob disease and fatal familial insomnia.
Scientists sequenced entire genomes of high-altitude individuals and found 11 regions with significant differences between those with chronic mountain sickness and healthy controls. The study identified two genes, SENP1 and ANP32D, which were expressed more in individuals with the condition in response to low oxygen levels.
San Diego State University researcher Sandy Bernstein receives $3.5m NIH grant to model human muscle diseases in fruit flies. His team uses genetically altered flies with engineered myosin protein mutations to better understand the effects on human health.
A study found that MRSA strains in humans originated from cattle, with a 40-year timeline for the emergence of resistance to methicillin. The bacteria's genetic analysis revealed that bovine strains were closer to the root of the phylogenetic tree, indicating a common ancestor.
A recent genetic study has uncovered a significant demographic shift in India's population, occurring approximately 1,900-4,200 years ago. This mixture of ancestral populations has left its mark on nearly every group in India, influencing the present-day caste system and increasing the incidence of genetic diseases.
HSCI researchers mapped nearly all cytosine-guanine pairs in human DNA and found that only a small fraction are dynamic, playing a key role in regulating gene expression. The study improves current approaches to mapping epigenetic marks and sheds light on how genes are controlled in different cell types.
Researchers at Michigan State University have discovered that genetic mutations interact with an individual's genome background about 75% of the time, affecting disease outcomes. This finding has significant implications for understanding and treating diseases with a simple genetic basis, such as breast cancer.
A new study using Y chromosome DNA sequencing sheds light on human ancestry by tracing the male lineage back to a common ancestor between 120,000 and 156,000 years ago. This timeframe agrees with previous findings on the female most recent common ancestor, providing significant insights into human history and migration patterns.
A recent study found that male Holocaust survivors lived an average of 14 months longer than non-survivors, with a significant difference in life-expectancy among men aged 10-20 during the war. The researchers suggest that the 'Posttraumatic Growth' phenomenon may have contributed to their longevity.
A study published in PNAS reveals that the human herpes virus uses histone proteins to package and store its genetic material, allowing it to remain dormant. Researchers identified a viral protein called IE1 as a potential target for new therapies to control the virus's activity.
Research suggests that inherited Human Herpesvirus 6 may be a root cause of CFS, causing cognitive dysfunction and fatigue. Antiviral drug therapy improves severe neurological symptoms in affected patients.
Scientists have discovered that a pressure-driven infection mechanism used by the herpes simplex virus 1 causes it to inject its genetic material into human cells. This technique could be targeted for future treatments to defeat HSV-1 and other viruses, potentially limiting drug resistance.
A new study has found a link between high levels of arsenic in rice and elevated genetic damage in humans. Researchers discovered that people consuming rice with more than 0.2 mg/kg arsenic showed higher frequencies of micronuclei, a sign of chromosomal damage.
A new small animal model of the human norovirus has been developed, allowing researchers to study the virus and develop potential antiviral treatments. The model was created by infecting 'humanized' mice with the virus and identified macrophages as the cell type infected by the virus.
U of M researchers identified infection-fighting and inflammation-suppressing functions for the PTPN22 gene, which could impact treatment strategies for autoimmune diseases. The study found that a variant of PTPN22 impacts immune system function in health and disease.
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.