• X chromosomes in females undergo a process known as X inactivation. (wikipedia.org)
  • X inactivation is when one of the two X chromosomes in females is almost completely inactivated. (wikipedia.org)
  • For people with disorders like trisomy X, where the genotype has three X chromosomes, X-inactivation will inactivate all X chromosomes until there is only one X chromosome active. (wikipedia.org)
  • Since the sex chromosomes carry genetic instructions for traits that go beyond gender determination, a process -- called dosage compensation -- evolved to ensure that the X chromosomes in males and females are expressed at the same level. (sciencedaily.com)
  • In male fruit flies (Drosophila), the expression -- or activity -- of genes on most of the single X chromosomes is doubled to match the expression of the two X chromosomes in female cells. (sciencedaily.com)
  • That complex doesn't exist in germ cells, so it was assumed that dosage compensation occurred in those cells by some other mechanism," said lead author Colin Meiklejohn, "We showed there is no upregulation of X chromosomes in the testes of flies. (sciencedaily.com)
  • With two X-chromosomes, women are more prone to inheriting potentially deleterious mutations in X-encoded genes, which, because of Xi, may all be expressed in different cells. (dementiatalkclub.com)
  • The crosstalk that exists between X chromosomes and autologous genes is a relatively new paradigm that has emerged as a result of the biology of sex differences, and gives rise to the question of how SCD shapes the genome function. (dementiatalkclub.com)
  • Epigenetic modifications on X chromosomes in marsupial and monotreme mammals and implications for evolution of dosage compensation. (chinagene.cn)
  • My research has focused on the integration of these chromosomes to build comprehensive analyses of human history and utilizing an evolutionary approach to characterize sex-bias in gene expression. (grantome.com)
  • If sex chromosomes evolved from autosomes, then, something must have happened to make the the X chromosome genes expressed twice as much as the genes on any single autosome. (drwile.com)
  • Mosaic) aneuploidies and chromosomal rearrangements are a frequent cause of idiopathic MCA/MR. Starting in 1959 with the identification of trisomy-21 as the genetic basis of Down syndrome [ 10 ], microscopic observation of metaphase chromosomes has for several decades been the method of choice for detecting chromosome abnormalities in MCA/MR patients. (biomedcentral.com)
  • A gene deriving from the ancestral sex chromosomes was lost from the X and retained on the Y chromosome in eutherian mammals. (harvard.edu)
  • Gene-rich X chromosomes implicate intragenomic conflict in the evolution of bizarre genetic systems. (harvard.edu)
  • Two major genetic categories are functional mosaics resulting from X inactivation and genomic mosaics caused by autosomal mutations. (nih.gov)
  • However in recent years with the development of epigenesis, genomic imprinting and the horizontal transferences of the genes, Lamarck's ideas have resurfaced. (intechopen.com)
  • The epigenetic modification of DNA with 5-methylcytosine is an important regulatory event involved in chromatin structure, genomic imprinting, inactivation of the X chromosome, transcription, and retrotransposon silencing. (caister.com)
  • Using comparative, evolutionary and functional genomic approaches, we profiled genome-wide allelic imbalance in mammalian placental samples including marsupials, mouse, cattle, dog and interspecific equid hybrids (mules and hinnies), and characterized different forms of X chromosome inactivation and their epigenetic regulation in the placenta. (xuwang.us)
  • In collaboration with Canine Performance Sciences Program at Auburn University College of Veterinary Medicine (AUCVM-CPS), we are working on the genetic enhancement of detection dogs using genomic, epigenomic, transcriptomic, metabolic and metagenomic approaches. (xuwang.us)
  • Genomic imprinting is an extreme form of allelic imbalance, in which the expression of imprinted genes is in a parent-of-origin dependent fashion. (xuwang.us)
  • In population genetics, the emergence of large-scale genomic data for various species and populations has provided new opportunities to understand the evolutionary forces that drive genetic diversity using statistical inference. (deepdyve.com)
  • Genomic imprinting refers to the parent-of-origin expression of genes, which originates from epigenetic events in the mammalian germ line. (deepdyve.com)
  • Structural genomic variations (SVs) are generally regarded as genetic changes with a size larger than 50 bp [ 1 ]. (biomedcentral.com)
  • According to some comprehensive genomic analyses, four major driver genes have been identified in pancreatic cancer: KRAS, CDKN2A, TP53, and SMAD4. (biomedcentral.com)
  • [7] The strategy is analogous to X chromosome silencing in mammalian females by its use of the X-inactivation gene ( XIST ). (cbhd.org)
  • This female specific dosage compensation mechanism depends on expression of Xist long ncRNA, which coats and transcriptionally silences future inactive X (Xi) balancing X-linked gene expression between XX females and XY males (Fig 1). (duke.edu)
  • The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus. (ox.ac.uk)
  • The Xist gene maps to the X inactivation center region in both mouse and human, and previous analysis of the 3' end of the gene has demonstrated inactive X-specific expression, suggesting a possible role in X inactivation. (ox.ac.uk)
  • We have now analyzed the entire mouse Xist gene. (ox.ac.uk)
  • Comparison with the human XIST gene demonstrates significant conservation of sequence and gene structure. (ox.ac.uk)
  • Together with conservation of inactive X-specific expression, these findings support a role for Xist in X inactivation, possibly as a functional RNA or as a chromatin organizer region. (ox.ac.uk)
  • 14] Kalantry S, Purushothaman S, Bowen RB, Starmer J, Magnuson T. Evidence of Xist RNA-independent initiation of mouse imprinted X-chromosome inactivation. (chinagene.cn)
  • X chromosome inactivation and Xist evolution in a rodent lacking LINE-1 activity. (chinagene.cn)
  • Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus. (axonmedchem.com)
  • Somatic XIST activation and features of X chromosome inactivation in male human cancers. (harvard.edu)
  • Michael Snyder (Stanford University, USA) gave an update on the Personal 'Omics' Profiling project, which is now assaying levels of gene expression, microbiome composition, DNA methylation and multitudinous biomarkers in over 70 individuals, including during experimental perturbations such as controlled weight gain. (biomedcentral.com)
  • Epigenetic control of gene expression lasts through multiple cell divisions without alterations in primary DNA sequence and can occur via mechanisms that include histone modification and DNA methylation. (stanford.edu)
  • In mammals, cytosine methylation at CpG positions of the DNA sequence is one of the hallmarks of epigenetic gene silencing. (caister.com)
  • Besides its role in the regulation of genes, DNA methylation silences repetitive elements and appears to be important for the stability of the mammalian genome. (caister.com)
  • DNA methyltransferases are not limited to catalyzing DNA methylation, but also take part in the regulation of gene expression through interactions with other proteins that repress transcription and modify chromatin structure. (caister.com)
  • Another research interest is the DNA methylation evolution, sex-biased gene expression, host-microbe interaction, mitochondrial-nuclear genome interaction, telomeric repeat and satellite repeat evolution using the model of parasitoid jewel wasps . (xuwang.us)
  • DNA methylation and histone modifications play a central role in the epigenetic regulation of gene expression and cell differentiation. (cipsm.de)
  • Recently, Np95 (also known as UHRF1 or ICBP90) has been found to interact with Dnmt1 and to bind hemimethylated DNA, indicating together with genetic studies a central role in the maintenance of DNA methylation. (cipsm.de)
  • There were 12 m 6 A RNA methylation genes displaying aberrant expressions, and an 11-gene diagnostic score model was finally built (Diagnostic score =0.033*KIAA1429+0.116*HNRNPC+0.115*RBM15-0.067* METTL3-0.048*ZC3H13-0.221*WTAP+0.213*YTHDF1-0.132*YTHDC1-0.135* FTO+0.078*YTHDF2+0.014*ALKBH5). (ijbs.com)
  • Usurping these processes to deregulate functional pathways is likely simpler than generating mutations or chromosomal aberrations (unless DNA repair is deficient and genetic instability is present). (aacrjournals.org)
  • Whithout mutations we would know very little about inheritance and the existence of genes. (intechopen.com)
  • The most prominent target gene is BRCA, in which mutations were first identified in breast cancer and ovarian cancer. (biomedcentral.com)
  • Pancreatic cancer has also been reported to have a strong relationship with BRCA gene mutations, which indicates that pancreatic cancer patients may benefit from PARP inhibitors. (biomedcentral.com)
  • Mutations in the genes encoding a calcium channel (Ca V 1.1) and a sodium channel (Na V 1.4) have been identified in HypoPP families. (jci.org)
  • In the Yildirim lab, we study how epigenetic mechanisms, particularly those that are mediated by long noncoding RNAs (ncRNAs), complement gene expression, impact genome stability and define cell fate decisions. (duke.edu)
  • In the long run, a detailed understanding of the genetic, epigenetic, and cellular mechanisms that are mediated by long ncRNAs and spatial positioning will allow us to explore their causal roles in disease and cancer. (duke.edu)
  • Mammalian X chromosome inactivation (XCI) provides a powerful model for studying the interplay between epigenetic mechanisms driven by ncRNAs and development. (duke.edu)
  • Indeed, early cancer research focused on the fact that neoplastic cells have aberrant gene expression and differentiation states, pointing to shared mechanisms between normal development and cancer ( 2 ). (aacrjournals.org)
  • In many biological processes the regulation of gene expression involves epigenetic mechanisms. (walterswebs.com)
  • Recent technological developments linked to noncoding RNA biology, high-resolution imaging, chromosome conformation and CRISPR/Cas9-based genetic screens, have allowed to unravel some of the key molecular players and regulatory mechanisms involved in this mammalian process of chromosome-wide gene silencing and heterochromatinization. (embo.org)
  • Moreover, recent studies of X-inactivation and dosage compensation across more diverse model organisms have provided new insights into the diversity of the molecular mechanisms and raise intriguing and fascinating evolutionary perspectives. (embo.org)
  • In this review, the various genetic mechanisms leading to mosaicism and the resulting cutaneous patterns are considered. (nih.gov)
  • In addition to classical gene regulatory networks noted above, we have recently identified a central role for additional biologic mechanisms, namely gene regulation by chromatin regulators and by noncoding RNAs. (stanford.edu)
  • Noncoding RNA sequences can regulate gene expression via interactions with epigenetic and other control mechanisms. (stanford.edu)
  • Dosage compensation in mammals occurs at two levels. (harvard.edu)
  • In addition to balancing X-chromosome dosage between males and females via X-inactivation, mammals also balance dosage of Xs and autosomes. (harvard.edu)
  • X inactivation" is characteristic of all female mammals. (plos.org)
  • Teachers and researchers keep sustaining attention to the Barr body because of the relationships between Barr body and the X chromosome dosage compensation effect in mammals, the human sex identification, and some human diseases. (chinagene.cn)
  • In female eutherian mammals, dosage compensation of X-linked genes between the two sexes (XX & XY) is achieved by random XCI in adult somatic tissues. (xuwang.us)
  • Marnie Blewitt highlights the visionary 1961 paper by Mary Lyon in which she proposed that dosage compensation in female mammals involves X-inactivation and recognized its implications for sex-specific phenotypes in X-linked disorders. (deepdyve.com)
  • The mechanism for X inactivation will occur during the embryonic stage. (wikipedia.org)
  • This process of X-chromosome inactivation evolved as a mechanism to regulate gene dosage. (dementiatalkclub.com)
  • Further, our research supports the theory that the human dosage-compensation mechanism via X- inactivation, evolved step-wise, in a gene-by-gene specific manner on the X chromosome in response to loss of functional Y-linked genes. (grantome.com)
  • This mechanism also applies to hematopoietic cells transformed by other HOX genes, including CDX2, which is highly expressed in a majority of acute myeloid leukemias, thus providing a molecular approach based on GSK-3 inhibitory strategies to target HOX-associated transcription in a broad spectrum of leukemias. (stanford.edu)
  • We are interested in defining the molecular bases of these interactions and delineating their significance in driving gene expression and genome functions. (duke.edu)
  • Our laboratory uses primarily XCI as a model to understand how long ncRNAs 1) regulate gene dosage and maintain epigenetic state, 2) impact genome stability, and 3) participate in cell fate decisions. (duke.edu)
  • Our aim is to define the molecular bases of the interactions that are established between chromatin and the components of the nuclear envelope, and determine how they 1) regulate epigenetic state of genes and their transcription, 2) participate in spatial organization of the genome, and 3) contribute to cellular functions during mammalian development. (duke.edu)
  • But it became clear in the past decade that genetic changes cannot fully explain cancer and, indeed, whole genome analyses are revealing surprisingly few shared mutational events in cases that lack genetic instability ( 5, 6 ). (aacrjournals.org)
  • The presumed gene count of 100,000 for human genome drastically went down to around 20,000 after the completion of Human Genome Project. (tripod.com)
  • To address this, we conducted three initial contig-level genome assemblies and developed a rigorous pipeline by which to successfully expand the W-linked data set, including 11 known genes and 24 newly identified genes. (bvsalud.org)
  • Sex-bias exists in the human genome in DNA content and gene expression. (grantome.com)
  • is it a wonder that our genome too is filled with the remains of extinct genes? (drwile.com)
  • Fueled by rapid technological innovations, the ability of geneticists to assay accurately not only genetic data but also gene expression levels, epigenetic markers, biomarker levels and microbiome composition has expanded the field of human genetics vastly. (biomedcentral.com)
  • Our long-term goal is to delineate the molecular bases and order of genetic, epigenetic and cellular processes that link altered expression of long ncRNAs and pathways driven by these molecules to cancer. (duke.edu)
  • In addition to their canonical functions in maintaining nuclear architecture and nucleocytoplasmic trafficking, components of the nuclear envelope (i.e. nuclear pore complex (NPC), nuclear lamina) are also involved in intracellular signaling, DNA repair, and gene expression. (duke.edu)
  • In various organisms, components of the nuclear envelope interact with chromatin that is spatially organized within the nucleus (Fig 2) and subsequently regulate gene expression. (duke.edu)
  • But the idea of stably changing gene expression in vivo has transformative potential in cancer therapy and beyond. (aacrjournals.org)
  • Be it for development, differentiation, stemness, or sex chromosome dosage compensation, stable, cell specific regulation of gene expression is essential for normal function ( 1 ). (aacrjournals.org)
  • Cells have built in machinery to turn off and on gene expression permanently. (aacrjournals.org)
  • Epigenetics is an emerging field of science that studies alterations in gene expression caused by factors other than changes in the DNA sequence. (walterswebs.com)
  • An endless supply of new studies prove that our health is an expression of how we live our lives--that what we eat and think and how we handle daily stress, plus the toxicity of our immediate environment--creates an internal biochemistry that can actually turn genes on or off. (walterswebs.com)
  • A complex of proteins called the dosage compensation complex is responsible for upregulating gene expression in somatic (non-reproductive) cells. (sciencedaily.com)
  • This process is mediated by 2 mutually exclusive programs of gene expression: 1) an undifferentiated program supporting proliferation by stem cells within the basal layer and 2) a differentiation program instructing growth arrest and differentiation-associated programmed cell death in suprabasal layers. (stanford.edu)
  • Gene "expression" refers to the cell making an mRNA copy of a gene and translating the information into an amino acid sequence of a specific protein. (plos.org)
  • Furthermore, the CES-2-like basic region leucine-zipper (bZip) transcription factor ATF-2, an upstream modulator of the core apoptotic cell death pathway, is able to directly regulate the expression of at least two key autophagy-related genes, bec-1/ATG6 and lgg-1/ATG8. (scite.ai)
  • We introduced the classical problems and research progress of the Barr body, as a line, into partial sections of our genetics teaching contents such as sex-linked genetic analysis, eukaryotic gene expression regulation, cancer genetic analysis, and genetic experiments. (chinagene.cn)
  • This research often requires the tissue-specific expression of transgenes to better mirror human diseases, to visualize pathways being studied or to modulate the expression of a disease-related gene. (nature.com)
  • Transgene expression using viral vectors provides an alternative, which allows for temporal expression of genes in mice with reduced cost and effort. (nature.com)
  • Third, we will study gene expression variation (with an emphasis on X-linked gene expression and X-inactivation) between the sexes, and between populations in the human placenta. (grantome.com)
  • 2) We have discovered a group of oncoproteins that are implicated in long-term maintenance of gene expression through their effects on the state of chromatin. (stanford.edu)
  • Because of this, Ohno suggested that during evolution, the expression of genes on the X chromosome was boosted by a factor of 2. (drwile.com)
  • They show that the expression of genes coming from the X chromosome in mice and people is (on average) half as much as the expression of genes coming from any autosome pair. (drwile.com)
  • Chromosome aberrations can affect one or more genes in a complex manner, such as by changing the regulation of gene expression, by disrupting exons, and by creating fusion genes. (biomedcentral.com)
  • This is largely a result of the complex effects of breakpoints on gene structure, function and expression. (biomedcentral.com)
  • Finally, we summarize the possible molecular consequences of chromosome aberrations for gene expression and function, and we discuss approaches for identification and unraveling the molecular determinants of congenital disease phenotypes. (biomedcentral.com)
  • The best known genes of microbes, mice and men are those that specify enzymes. (typeset.io)
  • To address the question of specificity for the allele encoding the Na V 1.4-R669H variant as a cause of HypoPP and to produce a model system in which to characterize functional defects of the mutant channel and susceptibility to paralysis, we generated knockin mice carrying the ortholog of the gene encoding the Na V 1.4-R669H variant (referred to herein as R669H mice). (jci.org)
  • These new models, which we term Multi-Functional Human Tissue Genetics, allow up to 10 alleles or more to be altered simultaneously, permitting genetic experiments with an unprecedented degree of rapidity and complexity. (stanford.edu)
  • Through a combination of genetics, tissue-specific transcriptome analysis, and functional studies of candidate genes, we uncovered a possible explanation for this unexpected role of GLP-1/Notch. (scite.ai)
  • We are studying the role that normal chromatin structure plays in gene regulation in hematopoietic cells and how its disruption leads to altered development and cancer. (stanford.edu)
  • The following chapters cover the epigenetic systems of plants, the epigenetic profile of embryonic stem cells, cell differentiation, imprinting marks, and random X chromosome inactivation. (caister.com)
  • Here, we show in the nematode Caenorhabditis elegans, that various genetic and pharmacological interventions causing embryonic lethality trigger a massive cell death response that has both autophagic and apoptotic features. (scite.ai)
  • This year, the sophistication of the analysis methods employed was striking, particularly for drawing inferences from subtle differences in human genetic variation. (biomedcentral.com)
  • The project's accomplishments in cataloging human variation and pioneering methods for storing, sharing and analyzing massive genetic datasets have been substantial, and the latest phase of analysis presented by Abecasis provided a stunning overview of genetic variation in humans. (biomedcentral.com)
  • 123-Chalvin C, Drevensek S, Chollet C, Gilard F, Šolić EM, Dron M, Bendahmane A, Boualem A, Cornille A. (2021) Study of the genetic and phenotypic variation among wild and cultivated clary sages provides interesting avenues for breeding programs of a perfume, medicinal and aromatic plant. (u-psud.fr)
  • Given long-range effects of genetic variation, this assumption may not be right unless documented experimentally. (tripod.com)
  • The other one is that mutation is any variation in the gene that causes an obvious change in phenotype whereas polymorphisms do not cause any obvious phenotypic variation. (tripod.com)
  • Nov. 18, 2020 Researchers have discovered how the MSL complex responsible for dosage compensation can distinguish the X chromosome from autosomes in flies. (sciencedaily.com)
  • These studies suggested that the genes on the only active X chromosome in both males and females were expressed as much as the genes on the autosomes. (drwile.com)
  • In retrospect, the fact that cancer was viewed as a genetic disease for so long was likely an artifact of focus and technology: Chromosomal changes began to be detectable before we understood epigenetics at a molecular level, and the early focus on familial cancer and rapidly induced viral tumors favored the discovery of mutational carcinogenesis, which has largely colored our views over the past three decades ( 3, 4 ). (aacrjournals.org)
  • In addition to these basic issues concerning leukemia pathogenesis, we are devising new diagnostic procedures for detecting and monitoring leukemia patients based on molecular genetic abnormalities in the malignant cells. (stanford.edu)
  • This nexus between nutrition and so-called genetic disease has been observed in both humans and primates, and it is the central theme of Epigenetics. (walterswebs.com)
  • Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)-they are called "dominant" because a single copy-inherited from either parent-is enough to cause this trait to appear. (wikipedia.org)
  • The trait or gene will be located on a non-sex chromosome. (wikipedia.org)
  • One example of an X-linked trait is Coffin-Lowry syndrome, which is caused by a mutation in ribosomal protein gene. (wikipedia.org)
  • Y-linked inheritance occurs when a gene, trait, or disorder is transferred through the Y chromosome. (wikipedia.org)
  • A SNP association with a trait is usually attributed to the changes in the activity of the gene where the SNP is located. (tripod.com)
  • This means you have two genes for every trait, and they can both be found in the same autosome pair. (drwile.com)
  • Marked skewing of X-inactivation patterns is a hallmark of IP and provides a means for investigating uncertain cases. (nih.gov)
  • We are currently pursuing studies of the dominant signaling and gene regulatory networks that control this process, including the Ras/MAPK cascade, which is required for stem cell-mediated self-renewal and the p53 transcription factor family member, p63, which is required for epidermal differentiation. (stanford.edu)
  • Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)
  • Another notable development was the emphasis on crowd-sourcing approaches to data collection, and Yaniv Erlich (Whitehead Institute, USA) kicked off a compelling session on the increasing role of these approaches for gathering genetic and phenotypic data in large samples. (biomedcentral.com)
  • [2] Potential treatments of DS have proven elusive thus far due to the number of genes affected by trisomy 21 and the phenotypic variety among the affected individuals. (cbhd.org)
  • They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity of chromosomal aberrations in these patients is typically assessed based on criteria such as phenotypic similarity to other patients with the same or overlapping aberration, absence in healthy individuals, de novo occurrence, and protein coding gene content. (biomedcentral.com)
  • Furthermore, there is significant purifying selection against large and gene-disruptive copy number variations (CNVs), indicating their considerable phenotypic impact. (biomedcentral.com)
  • We have conducted X-inactivation studies in three families where Xq28 marker studies were at odds with the original clinical assessment. (nih.gov)
  • The dosage of folic acid needed to prevent or reverse folate deficiency varies with the clinical circumstances. (medscape.com)
  • Research published in 2013 established, in principle, possible in vitro dosage compensation treatments to treat trisomy 21, that is, silencing of the extra copy of chromosome 21. (cbhd.org)
  • The potential to manipulate DNA sequences and insert genes with the use of zinc finger nucleases (ZFNs) has huge implications for human genetic disease therapeutics. (knowingneurons.com)
  • We approach these two main areas of research by utilizing a variety of genetic, cell biological and genomics tools using mouse stem cells and mouse models. (duke.edu)
  • It explains why mapping an organism's genetic code is not enough to determine how it develops or acts and shows how nurture combines with nature to engineer biological diversity. (walterswebs.com)
  • This is because males inherit their X chromosome and all X-linked genes will be inherited from the maternal side. (wikipedia.org)
  • Resveratrol is a stilbene/phytoestrogen flavonoid buy 100 mg cialis extra dosage overnight delivery erectile dysfunction and viagra use whats up with college-age males. (wgc2010.sk)
  • Pedigrees are used to help detect many different genetic diseases. (wikipedia.org)
  • the complete consistency of the cladogram topology constructed from their gene sequences proves the shared maternal coevolution. (bvsalud.org)
  • The evolution of imprinting may reflect a conflict over resource allocation early in life, with silencing of paternal genes in offspring soliciting increased. (deepdyve.com)
  • It took a while to recognize that these same processes are intimately involved in the pathophysiology of disease states, but research into epigenetic deregulation is now as commonplace as research into genetic etiology in various medical conditions. (aacrjournals.org)
  • Dosage compensation occurs differently from one species to the next. (sciencedaily.com)
  • Scientists have believed that the process of dosage compensation occurs in all cells of the male fruit fly. (sciencedaily.com)
  • When evolutionary change of nucleons occurs mainly by mutation and genetic drift, all the measures can be expressed in terms of the product of mutation rate per nucleon and effective population size. (typeset.io)
  • Epigenetics: The Death of the Genetic Theory of Disease Transmission is the result of decades of research and its findings that could be as critical to our understanding of human health as Pasteur s research in bacteriology. (walterswebs.com)
  • Our genes respond to everything we do, according to the revolutionary new science of epigenetics . (walterswebs.com)
  • If a woman is a carrier for hemophilia, inheriting a normal X from her father and a hemophilia-bearing X from her carrier mother, and the affected clotting factor gene is silenced in most of her liver cells, she will bleed easily (a phenomenon called a "manifesting heterozygote. (plos.org)
  • Wild type, mutant and heterozygote for variants of such genes differ in the catalytic activity at the step in the enzyme network specified by the gene in question. (typeset.io)
  • Pancreatic cancer is the third most common cancer related to early-onset gene mutation in breast cancer (BRCA, breast cancer susceptibility genes) as well as ovarian cancer. (biomedcentral.com)
  • The minuscule Y chromosome, despite it's housing the main gene behind whether we are biologically male or female, is puny by comparison (see Y Envy , which I wrote many years ago for The Scientist . (plos.org)
  • In this way, X inactivation makes every female mammal a chromosomal mosaic. (plos.org)
  • Mendel deduced that inheritance depends upon discrete units of inheritance, called factors or genes. (wikipedia.org)
  • Although most of what follows focuses on situations arising in diploid organisms, it is worth saying that the dosage balance principles hold also for prokaryotes. (biomedcentral.com)
  • Genetic heterogeneity and locus heterogeneity are used interchangeably in practice but this requires attention. (tripod.com)
  • Scientists have assumed that dosage compensation is needed for any male cell to survive, said Meiklejohn. (sciencedaily.com)
  • To better understand the role of nm23 genes in cell migration, we investigated the function of NDK-1, the sole Caenorhabditis elegans homolog of group I NDPKs in distal tip cell (DTC) migration. (scite.ai)
  • The development of transgenic mouse models that express genes of interest in specific cell types has transformed our understanding of basic biology and disease. (nature.com)
  • The white background in calicos comes from a gene on a different chromosome. (plos.org)
  • Biologists have discovered that dosage compensation does not occur in the reproductive cells of male fruit flies. (sciencedaily.com)
  • The introduction of a normal, or wild type, copy of the proposed gene - referred to as BRUSH - into the brush mutant did not correct the problems with its roots. (elifesciences.org)