Researchers propose a new approach to understanding Down syndrome by examining global DNA effects rather than individual genes. They found decreased cellular replication and survival capabilities across all cells with trisomy, regardless of which chromosome is duplicated.
A recent study reveals that Down syndrome brains develop the same amyloid beta and tau prions as Alzheimer's disease, causing neurological dysfunction. With over 50% of people with Down syndrome developing Alzheimer's by age 40, this discovery offers new insights into the common underlying causes of these two diseases.
Researchers found evidence supporting a new theory on how chromosome recombination is regulated during sexual reproduction. By manipulating protein expressions in the model plant Arabidopsis thaliana, they discovered that boosting HEI10 levels significantly increased crossovers, while disrupting ZYP1 expression had a similar effect.
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A genetic variant associated with low levels of HDL 'good' cholesterol and high triglycerides has been identified in Polynesian people. This discovery provides new insights into the genetic causes of high cholesterol and may lead to the development of more effective treatment options.
Researchers have completed and released a chromosome-scale genome sequence of the Aldabra giant tortoise, providing a much-needed genetic resource for rescue efforts. The data will aid in breeding efforts, comparative studies with other tortoise species, and understanding the species' remarkable size.
A new study by UC Santa Cruz researchers demonstrates 'transgenerational epigenetic inheritance,' where epigenetic marks are transmitted from parents to offspring and grandoffspring. This can lead to altered gene expression patterns in tissues, affecting health and development.
Researchers at Kyoto University have discovered a phosphorylation pathway that regulates meiotic double-strand break activity, ensuring genome stability. Enzymes ATR kinase and PP4 phosphatase work together to maintain a balance of DNA breaks, allowing for successful meiosis.
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Two papers published in Nature Plants unveil the first full-length genomes for homosporous ferns, a group containing 99% of modern fern diversity. The Ceratopteris genome suggests that ferns stole genes from bacteria for anti-herbivory toxins.
A team of researchers from Ritsumeikan University in Japan has elucidated the mechanism behind the liquid-solid phase transition of FUS protein that leads to ALS. They discovered a new therapeutic target, arginine, which suppresses FUS aggregation and could delay ALS progression.
The Gerlich Group at IMBA found that histone acetylation establishes a sharp surface boundary on chromosomes, resisting microtubule perforation. Chromatin phase separation and DNA looping by condensin cooperates to build mitotic chromosomes with unique physical properties.
Researchers from CNRS and MIT discover that chromosomes are fluid and able to move freely outside of cell division phases. They achieve this through direct mechanical manipulation using magnets, challenging the traditional representation of chromosomes as entangled molecules.
A recent study published in PLOS Biology suggests that 'selfish chromosomes' may be the reason behind the high number of human embryo deaths. The research found that most fertilized eggs die early on due to chromosomal errors, and even those that survive may not reach term due to a process called centromeric drive. However, the study a...
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Researchers have developed a framework to analyze chromosomal instability in human cancers, characterizing 17 different types of signatures. These signatures can predict how tumors respond to drugs and help identify future drug targets. The discovery aims to improve survival rates for millions of cancer patients worldwide.
Researchers used nanopore sequencing to detect specific genomic disorders in a fraction of the time it takes traditional testing. The study showed that diagnosis of larger chromosomal alterations could be made in one day, while smaller CNVs took two days.
A family of DNA motor proteins, condensin, has been found to create loops of DNA that form chromosomes during cell division. The protein complex achieves this feat by acting as a molecular machine, using energy from ATP to drive the process.
Researchers studied meiotic cohesin complexes' effect on chromosome structure and genomic integrity in embryonic stem cells. Maintaining adequate levels of REC8 and STAG3 factors ensures chromosomal stabilization and sister chromatid cohesion.
Researchers at the University of Copenhagen have developed a new method to characterize chromosomes with unprecedented detail. This allows for the detection of hidden chromosome defects that can cause miscarriages.
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Researchers have deciphered the structure of the kinetochore corona, a complex protein assembly that plays a pivotal role in chromosome segregation. The study, published in The EMBO Journal, provides new insights into how this critical process is regulated and offers a framework for future studies on cell division.
Researchers have assembled a comprehensive genome of the false clownfish, providing insights into its ecological behavior, evolutionary history and adaptability. The genome comparison with its orange-clownfish cousin reveals unique genes related to neurobiology, affecting their behavior and ecology.
Researchers have discovered 15 genomic loci that either accelerate or decelerate brain aging, offering potential new drug targets to combat Alzheimer's disease and other degenerative brain disorders. The study, led by USC researchers, found overlap with genes involved in depression, schizophrenia, and cognitive functioning.
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Scientists have found that animal chromosomes consist of nearly identical building blocks, which mix and combine to form diverse species. This discovery reveals a fundamental principle in evolution, allowing for predictions about genetic changes over time.
Dr. John Pierce Wise leads a team to investigate chromosome instability in lungs caused by metal exposure, with hopes of preventing and reversing lung cancer in people. The research aims to understand why humans are more susceptible to metals-induced lung cancer than whales.
Linker histones play a crucial role in controlling the number of chromatin loops and ultimately the shape of chromosomes. By regulating loop formation, linker histones allow cells to fine-tune chromosome size for optimal growth and reproduction.
Scientists prove Meselson effect in ancient asexual species, showing survival without sexual reproduction is possible. The study of beetle mite Oppiella nova reveals genetic variance and adaptation through independent genome evolution.
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A recent study published in eLife has discovered that prions, proteins known for their involvement in disease, may play a role in helping yeast cells cope with rapidly changing environmental conditions. The research found that prions can transform cell growth and survival, suggesting a new form of epigenetic control.
Chromosomal instability linked to cellular senescence in Drosophila study reveals mechanisms that could lead to reduced tumour growth and malignancy. Senescent cells cause inflammation and promote abnormal tissue growth.
A team of biologists has developed a new classification system for cell nuclei, revealing how species can switch between different nuclear types. The researchers discovered that mutations in a protein called condensin II can convert human cells into fly-like nuclei, and created a computer program to simulate the effects.
A combination of ponatinib and blinatumomab achieves 100% complete response rate and 85% complete molecular remission in newly diagnosed patients, reducing the risk of treatment-related complications. The treatment is safe and well-tolerated, with no additional toxicity observed when used together.
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A new study reveals that cyanobacteria rely on a circadian clock to precisely time DNA replication. Disruptions to this rhythm can lead to unfinished chromosomes and potential health problems. The findings have implications for understanding the impact of interrupted circadian rhythms on human health.
Scientists discovered that errors often occur when genetic material from each parent combines immediately after fertilization, leading to incorrect numbers of chromosomes. This process is surprisingly inefficient and can result in developmental defects and miscarriage.
The study confirms that the placenta is a 'dumping ground' for genetic defects, harboring mutations similar to childhood cancers. It tolerates major genetic flaws, unlike other human organs.
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A study published in Frontiers in Immunology found that Brazilians of African descent are less likely to find a donor in the National Register of Voluntary Bone Marrow Donors, with an up to 60% reduction in chances. The lack of representation and genetic diversity makes it harder for individuals with African ancestry to find compatible...
Researchers developed a novel probe to study how a 'matchmaker' molecule generates a 'wait' signal at kinetochores, ensuring accurate chromosome inheritance. This discovery provides insight into how accuracy of chromosome inheritance can be lowered in diseases like cancer.
A study published in The BMJ found that people born with major birth defects face a higher risk of cancer throughout life. The relative risk is greatest in childhood, but the risk persists into adulthood. Major birth defects are associated with an increased risk of various types of cancer, including leukemia.
Researchers at University of California have made a major advance in controlling malaria parasites by developing a new CRISPR-based gene drive system. The system successfully overcomes the issue of resistance in female mosquitoes, which was a significant challenge in previous attempts.
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The Murdoch Childrens Research Institute will establish a biobank of biological samples from people with Prader-Willi Syndrome and Angelman Syndrome, two rare genetic diseases affecting 1 in 15,000 people. The biobank will help researchers better understand the causes of these disorders and develop new treatments.
Scientists have developed a method to create high-resolution maps of contact points between replicated chromosomes, providing insights into the molecular machinery regulating DNA conformation and repair. This breakthrough could shed light on the mechanics underlying genome transport during cell division.
Researchers have developed algorithms that can accurately identify mutations in chromosomes linked to cancer, such as loss or duplication of chromosome parts. This breakthrough yields a clearer picture of cancer evolution and spread, enabling improved diagnosis and treatment.
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African baobab trees can live over a thousand years, providing food, medicine, and resources. The recent study reveals the tree's chromosome count, offering insights into conservation and agricultural applications.
Researchers used alien substitution lines to pinpoint chromosomal region 5A as key player in wheat's natural tolerance to synthetic auxin herbicides. They found minimal injury in some plant lines due to their ability to naturally detoxify the chemical, while others were highly sensitive to high rates of the herbicide.
Researchers discovered that lysosomes are active during mitosis and selectively degrade specific proteins, leading to a toroidal nucleus morphology that may indicate chromosomal instability. This finding provides a new perspective on the connection between autophagy and cell division in cancer and other diseases.
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Scientists have uncovered the mechanism behind chromosome elimination in plants, which could enable removal of harmful genes for medical purposes. The process involves impaired transport of B chromosomes, resulting in their degradation and sparing of root cells from potentially toxic genes.
Researchers at Delft University of Technology have discovered a new loop structure in DNA, called the 'Z loop', which differs from traditional single loops and occurs more frequently. This discovery sheds light on how condensin proteins fold DNA into a zigzag structure through complex interactions.
Researchers at Uppsala University sequenced a chromosome in zebra finches called the germline-restricted chromosome (GRC), finding it tens of millions of years old and crucial for songbird biology. The GRC plays a key role in early embryonic development and protects somatic cells from negative effects.
Biologists study flies to understand how chromosomes fold up in microscopic cells, finding that certain regions 'button' together easily while others don't. This discovery lays the foundation for better understanding human development and gene expression, particularly in cases of genetic anomalies leading to disease.
A study of 3000 egg cells reveals that chromosome errors, which increase with age, can lead to infertility and chromosomal syndromes. As women age, the eggs' maturity and fertility decline, with younger girls experiencing more errors during maturation.
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Researchers at UNIGE unveil a mutation mechanism essential for cancer development by linking DNA replication failures in cancer cells to their genetic instability. They successfully corrected the effects of replication stress in diseased cells, showing that this phenomenon is controllable and potentially exploitable for therapy.
Researchers have mapped a previously uncharted region of the human genome that gives rise to various diseases. Using advanced imaging techniques, they discovered extreme variability in DNA sequences between individuals and populations, which may lead to genetic testing for parents before having children.
New research reveals that microtubules in chromosome-dividing spindles are propelled forward by collective motion due to entanglement with neighboring tubes. This understanding aims to improve the study of cellular machinery and prevent errors like missing or extra chromosomes.
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A new study has revealed the genetic origins of the White Plymouth Rock chicken, a crucial component in today's meat chickens. The research team used genomics to study breed formation and identified the major contributors to the breed's development.
A novel open-source computational framework promotes affordable and routine NIPT applications in clinics, detecting fetal trisomies and parental chromosome origin from maternal blood samples. The framework incorporates machine learning methods to estimate euploidy or trisomy for each studied chromosome.
Stylianos E. Antonarakis is awarded the William Allan Award for his life's work on understanding the human genome and its relation to complex disorders. He has made significant contributions to the genetic basis of Mendelian and complex genetic disease, chromosome 21 biology and Down syndrome.
Researchers from University of Copenhagen identify genetic variant on chromosome 2 that increases the risk of fainting. The study analyzed data from over 400,000 individuals and found that women under 35 are more likely to faint due to this gene variant.
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Researchers at Bar-Ilan University identified a beneficial role of sleep in clearing out DNA damage accumulated during waking hours. Sleep increases chromosome dynamics, which helps to repair and maintain the integrity of individual neurons.
Researchers discover a critical failsafe mechanism involving cyclin-dependent kinase 1 (Cdk1) that prevents excess force from disrupting cell division. The 'goldilocks zone' of tension ensures chromosomes are aligned and distributed evenly, allowing cells to divide into identical daughter cells.
A Baylor College of Medicine study reveals extensive single Watson-Crick base pair mutations contribute to the characteristics of Potocki-Lupski and Smith-Magenis syndromes. The research identifies two groups of patients: those with recurrent and non-recurrent genetic changes.
A team of biologists has discovered a key aspect of chromosome inheritance that helps ensure the faithful passage of short chromosomes during reproduction. They found that vast regions near the ends of both long and short chromosomes are primed for high-density genetic exchanges, known as EARs.
Researchers have identified the world's first semi-identical twins during pregnancy using genetic testing. The Brisbane twins share only a proportion of their father's DNA, making them a unique case of sesquizygotic twins.
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Researchers at KAUST created a library of fluorescently marked, GPR-1-overexpressing strains to interrogate gene function and study transgenerational epigenetic inheritance. This tool allows scientists to generate worms with recoded genomes for synthetic biology applications.
A new study has identified areas of chromosomes associated with higher rates of asthma in those of African ancestry. The research used advanced technology to identify loci on chromosome 17q12-21, which may contribute to the increased risk of asthma in this population.