Articles tagged with X Chromosomes
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Research by VIB/KU Leuven scientists identifies HUWE1 as the culprit behind intellectual disability in some patients, a condition affecting approximately 15% of cases. The study's findings open up possibilities for detecting and treating X-linked intellectual disabilities through targeted tests and further research.
Researchers studied fruit fly chromosomes to understand the evolution of sex and gamete function. The study suggests that Meiotic Sex Chromosome Inactivation (MSCI) occurs in Drosophila, which has implications for human fertility and disease genetics.
Researchers studying papaya's sex chromosomes have found that the X chromosome has undergone significant changes since its emergence, including rapid expansion and gene loss. These findings challenge previous assumptions about the early stages of sex chromosome evolution and provide insights into the human X chromosome.
A team of scientists has discovered an epigenetic enzyme that doubles the output of thousands of different genes in male fruit flies to compensate for their single X chromosome. The study found twice as many DNA-transcribing proteins attached to the male X chromosome compared to females.
Researchers identified five rare mutations in the AFF2 gene that appear to increase the chances a boy will develop an autism spectrum disorder (ASD). Mutations in X chromosome genes affect four times more boys than girls. The study bolsters a growing consensus that rare variants contribute significantly to ASD risk.
Researchers identified a protein called LIF as crucial for the growth of female iPS cells, which contain two copies of the X-chromosome. This discovery offers new insights into how iPS cells form and could lead to improved human models for studying disease and testing new drugs.
A study by Griffith University has identified a new region on the X chromosome linked to migraine in females. The research suggests multiple genes may be involved, including one related to iron regulation in the brain.
Genetic analysis reveals that about a third of changes on the X chromosome have been beneficial for chimpanzees since divergence from humans, while most remain unchanged. This suggests that natural selection works stronger on the X chromosome than other genes.
Patterns formed by a new DNA letter, 5-hydroxymethylcytosine (5-hmC), suggest it has specific functions in stem cells and brain. The study's findings indicate that 5-hmC may poise genes to be turned on after being repressed.
A study published in Nature Genetics finds that both males and females up-regulate X chromosome gene expression to equalize the dosage imbalance caused by having only one copy of the X chromosome. This confirms a longstanding hypothesis and provides new insights into how cells manage genetic imbalances.
A new method has enabled the accurate sequencing and identification of genetic variants on the X chromosome, a hotspot for genes linked to autism and intellectual disability. The technology allows for fast and efficient analysis, potentially leading to easier clinical diagnosis and novel discoveries.
Researchers found that X chromosomes with fewer rDNA genes are more likely to be lost during male determination, leading to non-mendelian inheritance. This suggests a biased transmission of sex chromosomes in aphids.
New research suggests that women's stronger immune systems are linked to the X chromosome, with MicroRNAs encoded on this chromosome playing a key role. This discovery may help explain why women live longer than men and are less likely to develop cancer.
Scientists have challenged long-held assumptions about dosage compensation in male fruit flies, finding no upregulation of X chromosomes in testes cells. The study's findings suggest that dosage compensation may not be essential for male sex cell survival, sparking further investigation into the mechanisms at play.
A team of researchers at National Jewish Health discovered a type of B cell that may contribute to autoimmune disease, particularly in women. These cells produce autoantibodies and are more prevalent in elderly female mice, young and old mice prone to autoimmune disease, and humans with autoimmune diseases.
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.
A protein complex called MSL amplifies the X chromosome in males, allowing enzymes to express genes more freely. This process helps correct the genetic imbalance between X and Y chromosomes in males.
A new inexpensive, accurate, and practical diagnostic test for Turner syndrome has been developed by Yale School of Medicine researchers. The test can detect X-chromosome abnormalities in girls and can be done in a doctor's office using cheek swabs or newborn screening blood spots.
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.
Researchers at UCLA found that female induced pluripotent stem cells (iPS) retain an inactive X chromosome, similar to most female human embryonic stem cells. This discovery has critical implications for studying X-linked diseases and could lead to a unique form of gene therapy.
Female human embryonic stem cells show variations in X chromosome inactivation as early as five passages, suggesting culture conditions can impact cell safety. The study's findings may have implications for cancer development and disease treatment, prompting further research on uniforming X chromosome inactivation patterns.
Researchers discovered a novel protein complex that regulates around 4000 genes in Drosophila, with implications for human biology. The Non-Specific Lethal (NSL) complex helps MOF bind to promoters and determine gene expression in both sexes.
Researchers found that low oxygen levels prevent X chromosome inactivation in human embryonic stem cells, which can lead to a less flexible and pluripotent state. The study suggests that conventional lab methods may not be optimal, and alternative approaches are needed to maintain human ES cells' pluripotency.
Researchers found that a genetic mutation causes Interference in the Pruning process of nerve connections. The protein FMRP plays a role in this process, and the study may lead to better understanding of Fragile X Syndrome.
Researchers have discovered a correlation between excess gene copies and the severity of mental illness in males, with more copies leading to more serious handicaps. The study identifies GDI1 as the responsible gene on the X-chromosome, revealing a new mechanism for genetic disorders.
Cornell researchers discovered a genetic mechanism in fruit flies that prevents reproduction between two closely related species, Drosophila melanogaster and D. simulans. The mechanism involves rapidly evolving junk DNA in the male's X chromosome, which creates incompatibilities with the female's DNA, leading to embryo death.
Researchers from the University of Leicester have shown that exchange of DNA occurs between the X and Y chromosomes, potentially giving the Y chromosome a way to fix mutations. The study challenges scientific theory that the X and Y chromosomes did not communicate at all.
Researchers found that Aurora B kinase helps regulate XIST's chromatin binding by phosphorylating chromatin proteins during mitosis. This study provides insight into X chromosome silencing and may lead to a better understanding of noncoding RNAs and their role in regulating heterochromatin.
A study by Penn State scientists found that the Y chromosome has evolved rapidly, losing genes at a rate that could lead to its complete disappearance. The research revealed that this rapid evolution is due to the Y-specific DNA evolving independently from the non-sex chromosomes.
Researchers at UNC have redefined the process of X-inactivation, a genetic phenomenon that helps females avoid toxic genes. The new findings suggest Xist gene's role is more nuanced, and its absence may not trigger X-inactivation but rather allow genes to become active again.
Researchers found that human female embryos inactivate one X chromosome prior to implantation, which may affect laboratory culture conditions and embryo survival. This process is thought to have remained unchanged throughout evolution and has implications for human embryonic stem cell research.
A study of over 200 families with learning disabilities has discovered nine new genes on the X chromosome associated with the condition. The research highlights the challenges of identifying genetic causes and cautions against assuming that a knocked-out gene is causing a disease.
A new evolutionary study of the X chromosome shows that it plays an active role in sex chromosome differentiation. The researchers found that the X chromosome undergoes periods of intense adaptation as it compensates for the degeneration of the Y chromosome, which has lost many genes since it stopped recombining with the X. This findin...
Researchers at Mayo Clinic have identified a gene variant on the X chromosome associated with an increased risk of developing late-onset Alzheimer's disease. Women who inherited two copies of the PCDH11X variant were found to be at substantially greater risk, while men with one copy also showed a significant increase in risk.
Scientists at the University of Warwick have discovered a thermodynamic switch that enables the pairing of X chromosomes in female cells during embryo development. The discovery sheds light on the complex mechanism behind X-chromosome inactivation and its role in preventing medical conditions such as Down's Syndrome and Turner's Syndrome.
Researchers found that polygyny leads to an excess of genetic diversity on the X chromosome compared to autosomes. The process also results in fewer unique male genes being passed into the next generation.
A chromatin modifying enzyme helps compensate for the fact that males have only one copy of the sex chromosome X by binding differently to male and female sex chromosomes. This process, called dosage compensation, ensures that males produce the same amount of proteins as females despite their single X chromosome.
A team of scientists identified the TEX11 gene on the X chromosome as a key player in meiosis and male infertility. Disruption of this gene causes sterility in males and reduces female fecundity, highlighting the importance of sex chromosomes in fertility.
Researchers identified duplicated genes HSD17B10 and HUWE1 as the trigger for intellectual disability. The study found that these genes produce excess protein, leading to mental retardation in individuals with X chromosome-linked mutations.
Researchers have identified a new cause of mental retardation, finding that duplication of two proteins (HSD17B10 and HUWE1) leads to overproduction, offering promising possibilities for treatments. The discovery simplifies the search for remedies by targeting protein production rather than repairing or replacing defective proteins.
A new study published in PLOS Biology found that the number of X chromosomes determines the sex of a fruit fly embryo, contradicting previous findings. The researchers discovered that only two X chromosomes can produce a signal to feminize the embryo during a specific stage of development.
Researchers found that antimalarial drug chloroquine effectively prevents cancer in mouse models of two distinct human cancer syndromes, Burkitt lymphoma and ataxia telangiectasia. Chloroquine inhibited the development of Myc-induced lymphomas and mediated its effects through autophagy and lysosomal stress.
Researchers have identified a sex-ratio meiotic drive system in Drosophila simulans, with an X-linked distorter gene that creates skewed female litters and an autosomal suppressor gene that counteracts this effect. The findings provide insights into the molecular mechanisms underlying sex ratio distortion.
Researchers at the University of Rochester confirm the X chromosome is a key factor in the origin of new species, with 60% of its genes causing infertility in hybrids. The large X-effect pushes newly formed species onto divergent evolutionary paths.
Researchers at Emory University School of Medicine will use advanced technologies to search the entire X chromosome for genetic abnormalities in 330 patients with autism. The goal is to identify X-linked variation for autism susceptibility, a crucial step towards developing diagnostic tests and therapeutic approaches.
Researchers at University of Warwick have discovered that female cells use thermodynamics to randomly select one X chromosome, resulting in an evolutionary advantage. This process is crucial for survival and has implications for understanding genetic diseases.
Researchers at Texas A&M University are studying fruit flies to understand cellular differentiation and chromosome counting. They hope to uncover mechanisms that can help shed light on human genetic maladies such as color blindness and hemophilia.
A study found that G6PD deficiency protects hemizygous male children but not heterozygous female children against severe malaria. The deficiency appears to mitigate disease processes set up by infected red blood cells in the bloodstream, offering a survival benefit.
Researchers at MGH Cancer Center identified a novel gene mutation associated with Wilms tumor in 30% of cases. The mutated gene, WTX, is located on the sex-determining X chromosome and plays a key role in embryonic kidney development.
Research suggests that X-linked genes determine sex differences in disease, with males more vulnerable to deleterious mutations due to having only one copy of the gene. Females, on the other hand, have a backup copy, allowing them to mitigate the effect of mutations and expressing genes in a mixture of cells.
A new discovery links the nuclear membrane with dosage compensation in fruit flies, potentially shedding light on human X-chromosome balance. Researchers hope this finding will lead to a better understanding of how cells produce equal quantities of proteins between sexes.
Chromatin immunoprecipitation and DNA microarray studies reveal that the dosage compensation complex primarily targets coding sequences on the X chromosome. This finding raises important questions about the mechanisms underlying dosage compensation's selectivity.
Research by Vaijayanti Gupta et al. reveals X chromosome dosage compensation occurs in male and female somatic cells across species, including C.elegans and mice. The single male X chromosome is expressed at the same level as two female X chromosomes, indicating hypertranscription.
Researchers found that most sporadic basal-like breast cancers display abnormalities in the management of the X chromosome, leading to increased expression of specific genes. This defect may contribute to cancer development and progression in these aggressive subtypes.
New research reveals the Drosophila homolog of the mammalian UNR protein as a co-factor required for SXL-mediated repression of msl-2 translation. This mechanism prevents dosage compensation in female cells, highlighting an essential role for the UNR protein in maintaining sex-specific regulation.
Researchers have discovered new details of the mechanisms employed by C. elegans to ensure accurate chromosome matching during meiosis. The study, published in Cell and Science, sheds light on the role of Pairing Centers in promoting synapsis and chromosome pairing.
Researchers found that deuteranomalous individuals can distinguish between colors inaccessible to normal color vision, suggesting a unique color dimension. This discovery challenges the long-held assumption that colorblindness is solely related to reduced color perception.
Researchers have identified a rare genetic change on the X chromosome that causes XLHPT, a condition affecting male blood calcium levels and parathyroid hormone secretion. The study's findings may lead to new treatments for osteoporosis, a bone-weakening condition in the elderly.
The study provides conclusive evidence for the activation model of dosage compensation in flies, revealing that MSL upregulates X-linked genes twofold in males. This finding resolves a longstanding debate and highlights the importance of fine-tuning gene expression.
A US-India research team has completed an analysis of the X chromosome, identifying 43 new gene structures that encode proteins. The study, published in Nature Genetics, used a novel approach that compared human and mouse protein sequences to reveal previously unknown genes linked to X-linked mental retardation syndromes.