Mechanism gene dosage compensation genetic. Medical search. Frequent questions

A normal-visioned woman (with both genes present on each of her two X chromosomes) has a red color-blind son who was shown to have one copy of the green-detecting gene and no copies of the red-detecting gene. (quizlet.com)
The standard karyological technique and mapping of 18S rRNA and H3 histone genes on the chromosomes of Acanthocephalus anguillae individuals from three populations, one of which originated from the unfavorable environmental conditions of the Zemplínska Sírava reservoir in eastern Slovakia, were applied for the first time. (bvsalud.org)
These chromosomes also contain the genetic codes for the production of essential proteins, and the disproportion in chromosomes in XY individuals caused by them carrying only a single X for every pair of non-sex chromosomes (called autosomes) can lead to an imbalance in the production of proteins. (newswise.com)
Sex chromosome dosage compensation comes into play for individuals who have mismatched sex chromosomes. (newswise.com)
The Z chromosomes contain instructions for some of the proteins normally functioning cells should produce, and having only a single copy of a chromosome can result in a reduced amount of proteins produced, because protein production is often affected by the number of gene copies. (newswise.com)
But SCDC mechanisms work to upregulate, or increase the level, of protein production from genes in the single Z (or X) chromosomes. (newswise.com)
The researchers then compared the activity of genes from sex chromosomes and from autosomes, broken down by male and female turtles. (newswise.com)
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)
A major interest of ours lies in the evolution of sex chromosomes and the molecular diversity of compensatory mechanisms. (imb-mainz.de)
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)
Autosomes can be described as the non-sex chromosomes that play diverse roles in the human body like harboring genes for the body's metabolism, functioning, and growth. (biologyonline.com)
These chromosomes play a pivotal role in various aspects of human development, including metabolic pathways, cellular homeostasis , and genetic disorders. (biologyonline.com)

n = 1m + 1m-sm + 1a + 1a (X). Fluorescence in situ hybridization (FISH) revealed three loci of 18S rDNA on two autosomes and dispersion of H3 histone genes on all autosomes and the X chromosome. (bvsalud.org)
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)
Keller Valsecchi CI, Basilicata MF, Semplicio G, Georgiev P, Gutierrez NM and Akhtar A (2018) Facultative dosage compensation of developmental genes on autosomes in Drosophila and mouse embryonic stem cells . (imb-mainz.de)
Consisting of 22 pairs, autosomes carry a wealth of genetic information that governs numerous biological processes. (biologyonline.com)
Understanding the role and significance of autosomes in human genetics is crucial for uncovering the complex interplay of genes, their expression, and their impact on health and disease. (biologyonline.com)
This is why autosomes form the backbone of human genetics as they hold the key to our intricate biological processes and susceptibility to genetic disorders. (biologyonline.com)

Some definitions consider sperm activation to consist of these two processes of hyperactivation and the acrosome reaction Hyperactivation is a term also used to express an X chromosome gene dosage compensation mechanism and is seen in Drosophila. (wikipedia.org)
Importantly, strains lacking subunits of the NuA4 H4 histone acetyltransferase complex, orthologous to a complex previously shown in Drosophila to be associated with a similar gene dosage compensation mechanism, did not show an increase in H4 acetylation. (biomedcentral.com)

But the idea of stably changing gene expression in vivo has transformative potential in cancer therapy and beyond. (aacrjournals.org)

Two major genetic categories are functional mosaics resulting from X inactivation and genomic mosaics caused by autosomal mutations. (nih.gov)
Mammalian X chromosome inactivation (XCI) provides a powerful model for studying the interplay between epigenetic mechanisms driven by ncRNAs and development. (duke.edu)
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)
This process of X-chromosome inactivation evolved as a mechanism to regulate gene dosage. (dementiatalkclub.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)
To maximize the potential disease relevance, genes with a genome-wide significant excess burden of loss-of-function mutations in NPDs such as intellectual disability/developmental delay, autism spectrum disorder, and schizophrenia are the focus. (nih.gov)
Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. (edu.au)
Mutations in this gene predispose humans to breast and ovarian cancer. (edu.au)
Whithout mutations we would know very little about inheritance and the existence of genes. (intechopen.com)
3. Advances in genetics have identified new gene mutations in which have clarified the causes of several conditions previously thought to be "idiopathic. (frontiersin.org)
Having both a maternal and paternal copy of the genome is extremely important, as mutations that disrupt gene copy number often result in miscarriage or severe genetic disorders. (imb-mainz.de)
Autosomal dominant disorders like Huntington's disease or Marfan syndrome result from mutations in a single copy of an autosomal gene. (biologyonline.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)
Noncoding RNAs (ncRNAs) are noncoding transcripts that take part in epigenetic mechanisms by providing RNA-directed silencing, aiding recruitment of chromatin modifying complexes and in some instances, presenting enhancer-like functions to boost transcription. (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)
Also, significant discoveries including new embryological molecular genetic transcription factors, the role of active placental mineral transport, and hormone regulation factors have changed the understanding of calcium and phosphate homeostasis in the fetus and the newborn. (frontiersin.org)
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)
Previous studies of changes in transcription of Ch5 genes associated with the loss of one Ch5 in a mutant [Sor125(55)] adapted to growth on the toxic sugar sorbose (Sou + ) revealed expression of many genes on the monosomic Ch5 decreased twofold, conforming to the loss of DNA copy number. (biomedcentral.com)

Yet, the molecular mechanisms of these processes are poorly understood for mammalian systems. (duke.edu)
These include the varied molecular mechanisms underpinning epigenetic regulation, discussion of cellular processes that rely on this kind of regulation, and surveys of model organisms in which epigenetic effects have been most studied. (walterswebs.com)
The unassuming fruit fly has paved the way for another big scientific win: on October 2nd, the Nobel Assembly awarded the 2017 Nobel Prize in Physiology or Medicine to Jeffrey C. Hall, Michael Rosbash, and Michael W. Young for their discoveries of the molecular mechanisms behind circadian rhythms. (genestogenomes.org)
However, a thorough understanding of the molecular mechanisms that lead to MCA/MR as a result of chromosome aberrations is often lacking. (biomedcentral.com)
In spite of the clear association between large ( de novo ) CNVs and other SVs (collectively known as chromosomal aberrations) with MCA/MR phenotypes [ 9 ], precise characterization of molecular mechanisms that cause disease in individual patients is often unknown. (biomedcentral.com)

The epigenetic potential of DNA methylation inhibitors may be limited by other epigenetic mechanisms that are also worth exploring as therapeutic targets. (aacrjournals.org)
Multiple mechanisms have evolved to perform these essential functions: DNA methylation, a bewildering array of histone modifications, RNA-based regulation, etc. (aacrjournals.org)
DNA methylation patterns change dynamically during mammalian development and lineage specification, yet scarce information is available about how DNA methylation affects gene expression profiles upon differentiation. (cipsm.de)
Changes in DNA methylation and histone modifications at putative regulatory regions correlating with the altered expression of genes implicated in phenotypic development have been observed in a number of animal models of early life compromise [3] - [8] . (prolekarniky.cz)
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)

Bimodal gene expression by genetically identical cells is a pervasive feature of signaling networks and has been suggested to allow organisms to hedge their 'bets' in uncertain conditions. (elifesciences.org)
These results reveal a simple evolutionary mechanism by which organisms can shape their responses to the environment, and suggest that modality is a highly adaptable feature of a signaling response. (elifesciences.org)
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)
Until recently, it was unknown how sexual differences in the behavior, physiology, and development of organisms are regulated by differential gene expression. (peerj.com)
The study sheds light on how organisms have evolved to address such imbalances through a process called sex chromosome dosage compensation, or SCDC. (newswise.com)
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)
In order to identify the specific and ubiquitous mechanisms potentially involved, a broad range of photosynthetic organisms are investigated, from Cyanobacteria, micro- and macro-algae up to higher plants of agricultural interest. (universityofgalway.ie)
This line of research has both fundamental and applied aspects as a better understanding of the mechanisms involved in the adaptation of photosynthetic organisms to their environment is expected to provide invaluable information and candidates for biotechnology and breeding related programs. (universityofgalway.ie)
The Plant Systems Biology Lab aims at understanding how green organisms cope with the fluctuating environmental conditions they encounter in nature, i.e. understand what are the genetic/physiological bases of robustness in sessile green organisms. (universityofgalway.ie)
Here, we review current methods for breakpoint identification and their impact on the interpretation of chromosome aberrations in patients with MCA/MR. In addition, we discuss opportunities to dissect disease mechanisms based on large-scale genomic technologies and studies in model organisms. (biomedcentral.com)

Here, a complex of proteins bind to the X-linked genes to effectively double their genetic activity. (wikipedia.org)
The genes encoding the red- and green-color-detecting proteins of the human eye are located next to one another on the X chromosome and probably evolved from a common ancestral pigment gene. (quizlet.com)
Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)
While it is routine to detect structural viral proteins in vitro for diagnostic purposes, it previously remained impossible to directly and dynamically visualize HIV in living cells without genetic modification of the virus. (cipsm.de)
A complex of proteins called the dosage compensation complex is responsible for upregulating gene expression in somatic (non-reproductive) cells. (sciencedaily.com)

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)

While Baker speculated that humans might carry genes and brain circuits that function similarly to the fru gene in flies, he stressed that environmental influences are undoubtedly stronger and more varied in people. (stanford.edu)
Understanding the diversity of SCDC mechanisms in nature, how they happen and evolve, informs more broadly on how animals and humans compensate for gene dose imbalance, and why the failure to properly compensate for these differences leads to disease states," Valenzuela said. (newswise.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)
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)

This chapter begins with a discussion of the terminology used to describe inherited conditions, the prevalence of genetic disease, and some major principles and considerations in medical genetics. (mhmedical.com)
The benefits of integrating cross-species systems genetics platforms to advance knowledge in the underlying mechanisms that drive cardiometabolic diseases have been investigated. (elifesciences.org)
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)
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)

When compensatory mechanisms can no longer maintain cardiac output at normal LV filling pressures, the disease process is expressed with symptoms that collectively compose the disease state known as chronic heart failure (CHF). (medscape.com)

Thus, the pathophysiologic principles that distinguish genetic disease focus not so much on the affected organ system as on the mechanisms of genetic and genomic changes, inheritance, and molecular pathways from genotype to phenotype. (mhmedical.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)
How epigenetic mechanisms act in cell division and cell type specification, and how errors in these pathways contribute to cancer and other human diseases are also considered, along with the importance of epigenetics for induced pluripotency and reprogramming. (walterswebs.com)
Through lectures and literature studies, explore a range of mechanisms of catalytic reactions controlling reaction pathways and molecular interactions essential in organic reactions and in the design and synthesis of catalysts, functional small organic molecules, and protein conjugates. (oist.jp)
Despite significant advances in understanding nephron segment patterning, many questions remain about the underlying genes and signaling pathways that orchestrate renal progenitor cell fate choices and regulate differentiation. (mdpi.com)

We show that although the nascent Y chromosome encompasses nearly half of the linkage group, there has been no perceptible degradation of Y chromosome gene content or activity. (nature.com)

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)

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)
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)
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)

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)
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)
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)

While it is anticipated that assays should aim to characterize 100-250 genes, some phenotypes and assay formats may be more amenable to moderate scale screening against a subset (50-100) of the gene set. (nih.gov)
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 resulting phenotypic data will be integrated across modalities, levels of organization, and genes to create a harmonized, integrated knowledge base needed to substantively advance our understanding of basic gene function and, ultimately, make robust inferences into potential shared and unique disease mechanisms. (nih.gov)
Studying autosomal genetic disorders provides valuable insights into disease mechanisms and paves the way for targeted therapies and genetic counseling for the human creed. (biologyonline.com)

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)
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)

Laboratory domestication may reduce their genetic diversity and mating behaviour and hence, refreshment with wild genetic material is frequently needed. (bvsalud.org)
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)

Thus, unevenness in the number of copies of genes that work together can lead to developmental, physiological or other disorders. (newswise.com)
We therefore analyse the role of imprinted genes in multiple tissues in two affected generations of an established murine model of the developmental origins of health and disease using microarrays and quantitative RT-PCR. (prolekarniky.cz)
We study the causes and consequences of gene dosage alterations and their impact on developmental, evolutionary and ageing processes. (imb-mainz.de)

Our team is interested in the fundamental mechanisms and physiological relevance of gene copy number for regulating cellular function in eukaryotes. (imb-mainz.de)

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)
In many biological processes the regulation of gene expression involves epigenetic mechanisms. (walterswebs.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)

Disruptions in autosomal genes involved in cellular homeostasis can lead to electrolyte imbalances, impaired cell signaling , and malfunctioning cellular processes. (biologyonline.com)

In the galactose-utilization (GAL) pathway of Saccharomyces cerevisiae , gene induction is unimodal or bimodal depending on natural genetic variation and pre-induction conditions. (elifesciences.org)
This year, the sophistication of the analysis methods employed was striking, particularly for drawing inferences from subtle differences in human genetic variation. (biomedcentral.com)

Another important novel finding was made in 2000, when bone-derived hormone Fibroblast Growth Factor-23 (FGF23) was found to cause autosomal dominant hypophosphataemic rickets (ADHR), which provided the underlying mechanism for the previously unknown "phosphaturic factor" causing hypophosphataemia ( 2 , 3 ). (frontiersin.org)
Autosomal genes play a vital role in metabolic processes, regulating energy production, nutrient metabolism, and the synthesis of essential molecules which is discussed in detail in the next section of the article. (biologyonline.com)
Aberrations in autosomal genes can give rise to a wide range of genetic disorders. (biologyonline.com)
Autosomal recessive disorders like cystic fibrosis or sickle cell anemia require both copies of an autosomal gene to be mutated for the disorder to manifest. (biologyonline.com)

Noncoding RNA sequences can regulate gene expression via interactions with epigenetic and other control mechanisms. (stanford.edu)

The dominant theoretical model for the early stages of sex chromosome evolution 3 , 4 , 5 predicts that recombination will be selected against in the region between a sex determining gene and a nearby locus with alleles of sex-specific effect. (nature.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)
20,000 lncRNAs genes, and an increasing portion of them has been implicated as important in a myriad of biological processes, including dosage compensation, transcriptional regulation, and establishment of cell identity. (weizmann.ac.il)

These observations led us to propose that in C. albicans , transcriptional compensation for gene dose serves to facilitate the formation and maintenance of aneuploid chromosome states that are required for survival in adverse environments [ 7 ]. (biomedcentral.com)

Alternatively, the presence of multiple layers of epigenetic regulation may in fact protect imprinted genes from such perturbation. (prolekarniky.cz)

SSPsyGene is designed to provide a collaborative and efficient framework for identifying biological function beyond current small-scale and often ad hoc single gene efforts in order to generate a standardized, experimentally derived, functional catalog of NPD risk genes. (nih.gov)
We demonstrate that, despite the functional mono-allelicism of imprinted genes and their unique mechanisms of epigenetic dosage control, imprinted genes as a class are neither more susceptible nor protected from expression perturbation induced by maternal undernutrition in either the F1 or the F2 generation compared to other genes. (prolekarniky.cz)

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)
Furthermore, with the advancement of increasingly rapid molecular genetic testing, genomics will continue to play a greater role in this area of fetal diagnostics and prognostication. (frontiersin.org)

The number of copies of a given gene present in the cell of an organism. (edu.au)

To some extent, these mechanisms are similar to those that occur in nonheritable disorders. (mhmedical.com)
The SSPsyGene Consortium aims to produce a systematic annotation of basic neurobiological function of genes associated with risk for neurodevelopmental and psychiatric disorders (NPDs). (nih.gov)

Bruce Baker, the Dr. Morris Herzstein Professor in Biology in the School of Humanities and Sciences, Emeritus, at Stanford University, who helped elucidate the connection between genes and behaviors in fruit flies, died July 1. (stanford.edu)
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)
They hold a vast repository of genetic information that governs various aspects of human biology. (biologyonline.com)

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)

A pattern of inheritance or mechanism of gene action in which the effects of a variant allele can be observed in the presence of a nonmutant allele. (mhmedical.com)

Refers to pathogenic variants that cause a complete loss of function for the respective gene and therefore yield the same phenotype as a complete gene deletion. (mhmedical.com)
ADGCs supported in Phase 2 of the initiative will be involved in continued efforts to refine and expand the list, as well as developing a rigorous, data-informed approach for selecting patient variants in allelic series from a subset of NPD risk genes. (nih.gov)
However, little is known about the effect of gas cooking on bronchial responsiveness and on how this relationship may be modified by variants in the genes GSTM1 , GSTT1 and GSTP1 , which influence antioxidant defences. (bmj.com)

The concept of cutaneous mosaicism is important for gene mapping because here we have the opportunity to study two populations of cells differing only with regard to the mutation causing mosaicism. (nih.gov)

Oligonucleotides used in gene therapy and silencing are fragile compounds that degrade easily in biological environments. (cipsm.de)

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)
MicroRNAs (miRNAs) are endogenous short non-coding RNA molecules that can post-transcriptionally regulate gene expression and play a critical role in gonadal differentiation as well as early development of animals. (peerj.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)

The major human fungal pathogen Candida albicans possesses a diploid genome, but responds to growth in challenging environments by employing chromosome aneuploidy as an adaptation mechanism. (biomedcentral.com)
Moreover, analysis showed that while expression of many genes on the monosomic Ch5 is altered in accordance with the chromosome ploidy, expression of a large fraction of genes is increased to the normal diploid level, presumably compensating for gene dose. (biomedcentral.com)

Several pathophysiologic mechanisms are involved. (medscape.com)

These differences provide an opportunity to dissect the genetic basis underlying the differences in modality. (elifesciences.org)

The fruitless studies were a striking example of a single gene orchestrating a complex behavior in adult animals. (stanford.edu)

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)

Biologists have discovered that dosage compensation does not occur in the reproductive cells of male fruit flies. (sciencedaily.com)

But the researchers say their findings shed light on the evolutionary role of sex chromosome dosage compensation in many species. (scitechdaily.com)

SOX9 gene) of autosome 17 has an effect on how the gonads will develop, for instance, a dysfunctional SOX9 gene has been found to be associated with sex reversals. (biologyonline.com)
Figure 2: SOX9 gene on the autosome 17 (long arm) plays an integral role in gonadal sex determination. (biologyonline.com)

Complex topology and dosage sensitivity. (biomedcentral.com)

Valenzuela and her co-authors sampled softshell turtles at various stages of development, including embryos, young hatchlings and adults, and analyzed various tissues to determine which genes were activated. (newswise.com)

An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. (edu.au)

As wild males do not carry the T(Y;A) translocation, and wild females do not easily conform to artificial oviposition, the genetic refreshment of this GSS is a challenging and time-consuming process. (bvsalud.org)

This allows males (XY) to have equal genetic activity as females (XX), whose X's are not hyperactivated. (wikipedia.org)
He also explored how flies compensate for the chromosome imbalance between males and females (a process known as dosage compensation). (stanford.edu)
Furthermore, triggering male-like expression of the gene in female flies led them to act like males - they wooed other females with an elaborate courtship dance that involves tender leg taps and serenades composed with vibrating wings. (stanford.edu)
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)

2. The regulation of sodium/phosphate cotransporter activity in the renal tubules is the primary mechanism by which phosphate homeostasis is maintained. (frontiersin.org)
This article will first examine current understanding of fetal-to-neonatal mineral homeostasis mechanisms, and then review specific conditions pertinent to successful neonatal care. (frontiersin.org)

Genomic discoveries have continued to provide new insights into the mechanisms facilitating transplacental bone mineral transport and unveil the causation of conditions previously thought to be idiopathic. (frontiersin.org)

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)

While the long-term goal of the SSPsyGene Consortium is to build a comprehensively annotated resource describing the CNS function of all neurodevelopmental and psychiatric disorder risk genes, the current target for the initiative is 100-250 protein coding genes. (nih.gov)
This is largely a result of the complex effects of breakpoints on gene structure, function and expression. (biomedcentral.com)
When compensation is intact, hyperkalemia is uncommon until renal function (glomerular filtration rate [GFR]) decays to an advanced stage (ie, GFR or creatinine clearance ≤ 15 mL/min). (medscape.com)
All alter the normal muscular function of the myocardium, which prompts varying degrees of physiologic compensation for that malfunction. (medscape.com)

Anatomy8

Organisms13

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Chemicals and Drugs29

Analytical, Diagnostic and Therapeutic Techniques and Equipment12

Psychiatry and Psychology1

Phenomena and Processes51

Anthropology, Education, Sociology and Social Phenomena1

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Chromosomes16

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Inactivation4

Mutations8

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Molecular mechanisms5

Methylation6

Organisms10

Proteins5

Regulate gene dosage1

Humans4

Genetics4

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Pathways5

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SOX92

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