Chromosomal function gene dosage. Medical search. Frequent questions

The chance of it happening is a function of the degree of sharing of repetitive elements between two chromosomes. (wikipedia.org)
Retrogenes can move between different chromosomes to shape chromosomal evolution. (wikipedia.org)
The researchers noticed that the expression of genes located on all the other chromosomes (outside of chromosome 21) were disturbed in trisomic cells. (unige.ch)
Generally speaking, chromosomes are divided into domains that contain genes with rather similar levels of RNA production. (unige.ch)
While abnormal mitosis, including whole-genome duplication, underlies chromosomal copy-number changes, segmental alterations display signatures of successive breakage-fusion-bridge cycles and chromothripsis of unstable dicentric chromosomes. (bvsalud.org)
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)
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)
Five chromosomes bearing tandemly repeated genes encoding for important antigens (gp63, PSA-2 and K39) or key metabolic functions (mini-exon and rDNA) were studied. (hal.science)
Significant size variation (100-270 kbp) was observed for chromosomes bearing mini-exon, PSA-2 and rDNA genes, which involved variation in copy number of corresponding genes. (hal.science)
The two other chromosomes showed smaller size-variation and did not involve dosage of gp63 and K39 genes. (hal.science)
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)
However, this process can also result in genomic instability, which occurs when chromosomes are improperly distributed during cell division, or mitosis, resulting in compromised cellular function. (northwestern.edu)
This "coupling," according to Varma, is crucial because otherwise chromosomes get persistently detached from microtubule ends, which can lead to harmful cellular mutations or gene dosage problems brought about by chromosome gain or loss. (northwestern.edu)
That's when you lose the chromosomes, and then that's when you have chromosomal instability which is a key driver for cancer," said Varma, who is also a member of the Robert H. Lurie Comprehensive Cancer Center of Northwestern University. (northwestern.edu)
In the second keynote address, David Page (Whitehead Institute) investigated overlapping sets of genes retained on sex chromosomes over the course of evolution from autosomes (see Fig. 1 ). (biomedcentral.com)
Interestingly, human X chromosome and its bird counterpart Z chromosome retain a much higher number of autosomal genes than the Y and W chromosomes in humans and birds, respectively. (biomedcentral.com)
Lack of chromosomes is apparently the principal event in near haploid severe lymphoid leukemia and correlates with poor prognosis [44 Droxinostat 53 Haploid karyotypes in tumors are not fully intact and often contain diploid genomic regions and chromosomal rearrangements [54]. (molecularcircuit.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)
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)

Rapid evolution and functional divergence have been observed at the level of the transcription of duplicated genes, usually by point mutations in short transcription factor binding motifs. (wikipedia.org)
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)
In pneumococci, resistance to fluoroquinolones is associated with chromosomal mutations in the quinolone-resistance-determining regions (QRDR) of type II topoisomerase enzymes, predominantly gyrA and parC . (cdc.gov)
Several skeletal dysplasias in specific dog breeds have been associated with mutations in members of the collagen gene family or its binding proteins ( 8 - 10 ), fibrilin related protein ( 11 ), as well as an altered sulfate transporter protein ( 12 ). (frontiersin.org)
These linkage findings indicate that mutations of genes on 22q11 are likely to contribute to susceptibility to schizophrenia. (biomedcentral.com)
Autosomal dominant disorders like Huntington's disease or Marfan syndrome result from mutations in a single copy of an autosomal gene. (biologyonline.com)

After a whole genome duplication, there is a relatively short period of genome instability, extensive gene loss, elevated levels of nucleotide substitution and regulatory network rewiring. (wikipedia.org)
We identify distinct patterns of copy-number evolution indicating multigenerational chromosomal instability that is initiated by cell division errors but propagated only after p53 loss. (bvsalud.org)
Our analysis elucidates how multigenerational chromosomal instability generates copy-number variation in BE cells, precipitates complex alterations including DNA amplifications, and promotes their independent clonal expansion and transformation. (bvsalud.org)
In particular, we suggest sloping copy-number variation as a signature of ongoing chromosomal instability that precedes copy-number complexity. (bvsalud.org)
These findings suggest copy-number heterogeneity in advanced cancers originates from chromosomal instability in precancerous cells and such instability may be identified from the presence of sloping copy-number variation in bulk sequencing data. (bvsalud.org)
Advances in molecular biology techniques allow us to obtain a better understanding of precise molecular mechanisms and to identify the chromosome instability region and key driver genes in the carcinogenesis and progression of SOC. (bvsalud.org)
In vitro and in vivo genomic engineering, leveraging loss-of-function studies, along with a model of partial trisomy of chromosome 21q, demonstrated a dosage-dependent effect of the interferon receptor genes cluster as an adaptive mechanism to deleterious chromosomal instability in metastatic progression. (bvsalud.org)
A recent Northwestern Medicine study published in the Journal of Cell Biology has identified new mechanisms that cause genomic or chromosomal instability during cell division, findings that may improve the development of biomarkers and targeted therapies for cancer. (northwestern.edu)
A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)
Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)
Chromosomal instability. (lookformedical.com)

Identification of regions with copy number aberrations and the genes involved thus offers a basis for better understanding of cancer development [ 6 ]. (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)
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)
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)
In the following sections we first provide an overview of current methods for diagnostic detection and interpretation of chromosomal aberrations in MCA/MR patients. (biomedcentral.com)
Subsequently, the introduction and relevance of new methods for high-resolution dissection of breakpoints of chromosomal aberrations is discussed. (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)
Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. (biomedcentral.com)
Aberrations in autosomal genes can give rise to a wide range of genetic disorders. (biologyonline.com)

Genomic DNA copy number variation is a hallmark of cancer and can lead to alteration in the expression and functions of genes residing within the affected chromosomal region [ 5 ]. (biomedcentral.com)
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)
Gene and genome duplications are the primary source of new genes and have played a pivotal role in the evolution of genomic and organismal complexity [ 1 - 4 ]. (biomedcentral.com)
Genomic imprinting monoallelic X and expression chromosome dosage impose hereditary limits to haploid development in mammals. (molecularcircuit.com)

Thus, a link seems to exist between gene regulation (at least at the post-translational level) and genome evolution. (wikipedia.org)
Whole genome duplications are thought to be less detrimental than aneuploidy as the relative dosage of individual genes should be the same. (wikipedia.org)
Recent studies yielded a first direct estimate of the genome-wide rate of gene duplication in C. elegans, the first multicellular eukaryote for which such as estimate became available. (wikipedia.org)
It results from a chromosomal abnormality where cells of affected individuals contain a third copy of chromosome 21 (1% of the human genome). (unige.ch)
According to a hypothesis called «gene dosage disequilibrium», the presence of a third chromosome 21 could influence the expression of all the other genes in the genome. (unige.ch)
The presence of about 1% of extra genetic material in the trisomic cells hence modifies the function of the whole genome, and disrupts the general equilibrium of gene expression. (unige.ch)
Here we perform haplotype-specific analysis of chromosomal copy-number evolution in the progression of Barrett's esophagus (BE) to esophageal adenocarcinoma (EAC) on multiregional whole-genome sequencing data of BE with dysplasia and microscopic EAC foci. (bvsalud.org)
Such a segment in the tumor genome may harbor either oncogenes or tumor suppressor genes depending on whether they are present in increased or decreased copy number, respectively. (biomedcentral.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)
In the current study, Varma's team developed a novel approach which involves attaching a degron, an amino acid sequence "tag," to the end of the desired proteins and then, using CRISPR genome editing, replacing the desired gene on the chromosome with copies of the same gene with the degron attached to it. (northwestern.edu)
2 3 The HGP demonstrated that a relatively limited number of genes could be identified in the human genome, which substantiated the theory that complex biological processes were regulated on other levels than DNA sequence alone. (bmj.com)
in one study, 31 genes in breast CAFs, which were identified using Affymetrix Human Genome U133 Plus 2.0 and an empirical Bayesian model, were different from those in NFs ( 11 ). (spandidos-publications.com)
Using this new technique, we can cut a strawberry's genome at a desired location so that existing genes can be removed or added. (ufl.edu)
We have previously established that the spontaneous, genome-wide rate of gene duplication in C. elegans is two orders of magnitude higher than the point mutation rate [ 8 ]. (biomedcentral.com)
Similar to the focus on structural variation as opposed to SNV's in protein coding genes, there were a number of excellent talks defining variation in non-coding regions from genome sequencing datasets of different patient populations. (biomedcentral.com)
Taking a different approach based on gene expression, Pejman Mohammadi (of the Scripps Research Institute, formerly at the New York Genome Center) presented work utilizing allele-specific gene expression data to identify genetic regulatory outliers in a cohort of patients with muscular dystrophy using Analysis of Expression Variance- Dosage Outlier Test (ANEVA-DOT). (biomedcentral.com)

Duplications and deletions of short chromosomal fragments are increasingly recognized as the cause for rare neurodevelopmental conditions and disorders. (uni-halle.de)
Due to the high rates of origin of spontaneous duplications and deletions, copy-number changes containing the same genes arose readily in independent populations. (biomedcentral.com)

Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. (wikipedia.org)
Comparisons of genomes demonstrate that gene duplications are common in most species investigated. (wikipedia.org)

Our work indicates that parental origin of an epigenetic state is irrelevant as long as appropriate balanced gene expression is established and maintained at imprinted loci. (nature.com)

Gene editing technology can be used to almost surgically adjust the gene or genes behind that deleterious trait. (ufl.edu)

This deletion is only ever seen in one of their two copies of the chromosome-suggesting that at least some of these genes are essential for survival-but the identity of the gene(s) that are associated with the increased risk of myeloid malignancies is unknown. (elifesciences.org)
Alteration (amplification or deletion) of TOP2A gene was also significantly related to shorter survival of cancer patients. (jcancer.org)
The rates of spontaneous gene duplication and deletion are extraordinarily high and speak to the enormous potential of these structural variants for generating new adaptive variability [ 5 - 10 ]. (biomedcentral.com)
A mutation or deletion of any of the genes that code for enzymes involved in cortisol or aldosterone synthesis results in congenital adrenal hyperplasia. (medscape.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)
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)
The two keynote addresses provided new insights into chromosomal and chromatin regulation in normal and disease states. (biomedcentral.com)

RNA is the molecule which transmits the information contained in DNA, before this information is translated into proteins with precise functions. (unige.ch)
This study therefore shows for the first time that the DNA position in the nucleus or the biochemical characteristics of DNA-proteins interactions in the trisomic cells is modified, leading to changes in the gene expression profile. (unige.ch)
A complex of proteins called the dosage compensation complex is responsible for upregulating gene expression in somatic (non-reproductive) cells. (sciencedaily.com)
We are investigating how Pbx and Meis proteins contribute to the specificity of Hox function in development and how disruption of their activities leads to neoplasia. (stanford.edu)
Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)
By contrast, the 10 downregulated genes were primarily associated with epithelial membrane proteins ( 11 ). (spandidos-publications.com)

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

Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. (wikipedia.org)
That is, this extra genetic material could disrupt the process through which information carried in the genes is decoded, therefore modifying the cellular function. (unige.ch)
To compare gene expression levels between the twins, UNIGE researchers used recent, high-throughput sequencing technologies and other biotechnological tools developed within the Department of Genetic Medicine and Development, or in collaboration with scientists in Strasbourg, Barcelona, Amsterdam, and Seattle. (unige.ch)
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)
Nevertheless, gene flow constrains population differentiation, and may influence the genetic architecture of locally adapted phenotypes. (genestogenomes.org)
For example, instead of breeding for many years to move a disease resistance gene from a wild strawberry into a modern strawberry, gene editing allows a direct introduction of the genetic information. (ufl.edu)
By using CRISPR technology, these genes or gene variants can be moved into desirable genetic backgrounds that can be further moved via conventional crossing in later generations. (ufl.edu)
We show that gene copy-number changes are a common class of adaptive genetic change. (biomedcentral.com)
Ohno [ 1 ] theorized that newly duplicated genes were freed from the constraints of natural selection, implicating a dominant role of genetic drift in their early evolutionary dynamics. (biomedcentral.com)
In this study, we seek to determine if gene copy-number changes are a common class of genetic change during adaptation and what role, if any, natural selection plays in the maintenance and frequency increase of copy-number variants (CNVs henceforth) in experimental populations. (biomedcentral.com)

This study aims to understand the function and mechanism of Drosophila Glycine N-acyltransferase (GLYAT) in cell invasion. (sdbonline.org)
Drosophila females are larger than males and a central gene of the sex-determination pathway, transformer (tra), contributes to this difference. (genestogenomes.org)

To facilitate analysis of this type of non-coding variation dataset, the group is now developing a non-coding constraint metric (parallel to the constraint metrics for protein coding genes). (biomedcentral.com)

While imprinting perturbations are widely associated with developmental abnormalities, the intricate regional interplay between imprinted genes makes interpreting the contribution of gene dosage effects to phenotypes a challenging task. (nature.com)
Yet, the intricate form of epigenetic control over the parent-specific expression of multiple genes in an imprinted cluster poses difficulties when trying to decipher the relative contribution of changes in imprinted gene dosage to the resulting physiological phenotypes. (nature.com)
The UNIGE team will now continue its research to understand molecular mechanisms at stake, and link this disrupted gene expression with the phenotypes associated with Down syndrome. (unige.ch)
CAFs are different from NFs, and their unique phenotypes and functions are partly determined by differences in gene expression. (spandidos-publications.com)

Three methods including MetaCore analysis for disease and pathway correlations, concordance analysis between array-CGH database and the expression array database, and literature search for copy number variation genes were performed to select novel lung cancer candidate genes. (biomedcentral.com)
Gene copy-number variation (CNVs), which provides the raw material for the evolution of novel genes, is widespread in natural populations. (biomedcentral.com)

In addition, CISH analysis of patients indicated that copy number amplification indeed occurred for ARHGAP19 and ZNF322A genes in lung cancer patients. (biomedcentral.com)
Together, our data suggest that increased expression of Ndr2 may critically contribute to the development of intellectual disabilities upon gene amplification. (uni-halle.de)

Here we review the recent literature on haploid genomes and dosage effects and try to embed recent findings in an evolutionary perspective. (molecularcircuit.com)

Both average methylation level and range of methylation variation depended on the gene locus, tissue type and/or developmental stage. (uni-wuerzburg.de)
Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus. (axonmedchem.com)
Wendy Bickmore (University of Edinburgh) described the role of regulatory variation in developmental genes in Mendelian diseases. (biomedcentral.com)

Gene rearrangements and their synergistic effects on the phenotypic expression of the parasite are discussed. (hal.science)

This process of X-chromosome inactivation evolved as a mechanism to regulate gene dosage. (dementiatalkclub.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)
In contrast, natural selection for increased gene expression may represent an important mechanism by which duplicate gene copies are maintained in populations [ 14 ]. (biomedcentral.com)

A common deleted region (CDR) in both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) affects the long arm of chromosome 20 and has been predicted to harbor a tumor suppressor gene. (elifesciences.org)
have uncovered a key tumor suppressor among those genes frequently lost on chromosome 20. (elifesciences.org)
In addition to revealing a new tumor suppressor gene and its contribution to myeloid malignancies, the study by Heinrichs et al. (elifesciences.org)
highlights the importance of gene dosage in mediating the effects of tumor suppressors. (elifesciences.org)
In this study, we performed quantitative methylation analyses of six differentially methylated imprinted genes (H19, MEG3, LIT1, NESP55, PEG3 and SNRPN), one hypermethylated pluripotency gene (OCT4) and one hypomethylated tumor suppressor gene (APC) in chorionic villus, fetal and adult cortex, and adult blood samples. (uni-wuerzburg.de)
A haploid phase where a single hit can inactivate gene function could be explained Droxinostat by selection for loss of tumor suppressor genes during tumor development (Figure? (molecularcircuit.com)
Therefore it cannot be ruled out that a haploid phase might contribute to tumor cell persistence in a different way possibly involving gene dosage effects. (molecularcircuit.com)
Haploid phases in human tumors could facilitate or accelerate the loss of tumor suppressor gene function. (molecularcircuit.com)

Alternatively inactivation from the X chromosome leaves haploid cells nullisomic for X-linked genes which isn't compatible with success [38]. (molecularcircuit.com)

Myeloid malignancy patients lacking one copy of this gene showed levels of MYBL2 expression that were less than 50% of those in healthy individuals. (elifesciences.org)
This suggests that additional mechanisms must be acting to reduce expression of their remaining copy of the gene. (elifesciences.org)
Hence, this finding reveals a more general role for MYBL2 as it indicates that more patients are likely to be affected by altered expression of this gene. (elifesciences.org)
used gene silencing techniques to reduce the expression of MYBL2 in mice and showed that this induced symptoms of myeloid malignancies in the animals. (elifesciences.org)
Mammalian parental imprinting represents an exquisite form of epigenetic control regulating the parent-specific monoallelic expression of genes in clusters. (nature.com)
This determined how hierarchical interactions between regulatory elements orchestrate robust parent-specific expression, with implications for non-imprinted gene regulation. (nature.com)
Based on this hypothesis, several research groups have tried, so far without success, to identify changes in gene expression within trisomic cells and link them with symptoms seen in patients. (unige.ch)
However, as the level of most gene expression varies from one person to another, it is extremely difficult to discriminate between changes exclusively linked to trisomy 21 and those due to natural variation between individuals. (unige.ch)
They were thus able to eliminate interindividual variations and identify the changes in gene expression exclusively due to trisomy 21. (unige.ch)
The end goal of this research is to find ways to revert the dysregulation of cellular gene expression back to normal, with the objective to correct the cellular abnormalities in this disease. (unige.ch)
The CNVs of MED1, GRB7 and MIEN1 located at 17q12 were found to be correlated with the overall survival of SOC patients (MED1: p = 0.028, GRB7: p = 0.0048, MIEN1: p = 0.0051), and the expression of the three driver genes in the ovarian cell line IOSE80 and EOC cell lines SKOV3 and A2780 was confirmed by western blot and cell immunohistochemistry. (bvsalud.org)
for example, they provide structural stability to cells and tissues, give motility to individual cells, carry messages within and between cells, and regulate gene expression and metabolism. (biologists.com)
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)
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)
We developed a conditional transgenic mouse with increased Ndr2 expression in postmigratory forebrain neurons to study the consequences of an increased gene dosage of this Hippo pathway kinase on brain circuitry and cognitive functions. (uni-halle.de)
Sex-chromosome dosage effects on gene expression in humans. (medlineplus.gov)
This is largely a result of the complex effects of breakpoints on gene structure, function and expression. (biomedcentral.com)
Although the field of OMICS is ever expanding (eg, see http://omics.org ), currently five different OMICS fields are well established: genotyping, gene expression profiling, epigenomics, proteomics, and metabolomics. (bmj.com)
The prostaglandin-endoperoxide synthase 2 gene (PTGS2), which encodes cyclooxygenase-2, was found to upregulate the expression of TGF-β2 ( 14 ). (spandidos-publications.com)
These results are consistent with another study concerning the gene expression profiling of breast CAFs, which were detected using a complementary DNA microarray ( 15 ). (spandidos-publications.com)
Cross-species analysis of autosomal gene expression across 12 tissues identified over 2,700 gene-tissue pairs with conserved sex-biased gene expression. (biomedcentral.com)
Furthermore, X chromosome dosage is a major determinant of sex-biased autosomal gene expression, potentially explaining the many disorders where penetrance or expressivity may vary between individuals of different sexes. (biomedcentral.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)
Fig. 4: Analysis of expression of genes in neoloops. (nature.com)

Several reports suggest that dosage changes in 22q11.2 genes could disrupt processes required for proper brain development and/or function, and contribute to increase schizophrenia susceptibility [ 11 , 12 ]. (biomedcentral.com)

Mammalian parental imprinting is a form of epigenetic regulation that causes genes to be expressed from only one chromosome homolog according to parent-of-origin 1 , 2 . (nature.com)
DNA methylation is an epigenetic modification that plays an important role in gene regulation. (uni-wuerzburg.de)
Multicellular life relies on epigenetic processes to specialize the function of groups of cells for optimal physiology. (aacrjournals.org)
In mammals, cytosine methylation at CpG positions of the DNA sequence is one of the hallmarks of epigenetic gene silencing. (caister.com)
The present review summarizes the recent achievements in understanding the gene profiles of CAFs and pays special attention to their possible epigenetic alterations. (spandidos-publications.com)

In consecutive, unselected MCA/MR patients karyotyping enables the detection of pathogenic chromosomal abnormalities in about 4% of cases (excluding Down syndrome), despite its limited resolution to about 5-10 Mb. (biomedcentral.com)

Multiple mechanisms have evolved to perform these essential functions: DNA methylation, a bewildering array of histone modifications, RNA-based regulation, etc. (aacrjournals.org)
We also show that SpCas9-mediated cleavage is unaffected by DNA methylation and that the dosage of SpCas9 and sgRNA can be titrated to minimize off-target modification. (cdc.gov)

Early indications suggest that gene editing should be regulated like conventionally bred crops, as the final product can simply match what may be done by conventional breeding. (ufl.edu)

The single-nucleotide variation burden, distribution, frequency and signature followed the known ovarian mutation profiles, without chromosomal bias. (bvsalud.org)
Sequencing showed a S79Y mutation in par C and a Q118K (CAA→AAA) mutation in gyr A. Sequencing of the entire gyrA and parC genes confirmed that no additional amino acid substitutions were outside the QRDRs. (cdc.gov)
The ciprofloxacin and levofloxacin MICs of R6 transformed with the gyrA gene of the resistant isolate containing the new Q118K mutation were 4 and 2 mg/L, respectively. (cdc.gov)

We identified 20 chromosomal imbalance regions harboring 459 genes for Caucasian and 17 regions containing 476 genes for Asian lung cancer patients. (biomedcentral.com)

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)
The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). (medlineplus.gov)

The gene, which is called MYBL2 , encodes a transcription factor that helps to control the cell division cycle. (elifesciences.org)
The NDR2 gene encodes a protein kinase important for neuronal development and is part of a microduplication region on chromosome 12 that is associated with intellectual disabilities, autism, and epilepsy. (uni-halle.de)

TOP2A (DNA topoisomerase II alpha) gene, mapped to chromosome 17q12-q21, covers approximately 27.5 kb and includes 35 exons, encoding a 170 kDa protein [ 7 ]. (jcancer.org)
This approach allowed the investigators to precisely inhibit the Cdt1 protein function during mitosis without interfering with its DNA replication function, according to Varma. (northwestern.edu)
Of the 31 genes, the 21 upregulated genes were primarily associated with cell paracrine and intracellular signaling, transcription regulation and cell adhesion and migration, and their transcriptional products included transforming growth factor-β2 (TGF-β2), insulin-like growth factor-binding protein 2 and transcriptional factor AP-2α/γ ( 11 ). (spandidos-publications.com)

Several lines of evidence suggest that these changes were adaptive: (i) copy-number changes reached high frequency or were fixed in a short time, (ii) many independent populations harbored CNVs spanning the same genes, and (iii) larger average size of CNVs in adapting populations relative to spontaneous CNVs. (biomedcentral.com)

imprinted gene cluster. (molecularcircuit.com)

We applied NeoLoopFinder in Hi-C data from 50 cancer cell lines and primary tumors and identified tens of recurrent genes associated with enhancer hijacking. (nature.com)

Culture circumstances might contribute considerably towards the advancement of aneuploidies as development requirements are much less strict than in advancement where growth depends upon functioning cells and organs. (molecularcircuit.com)

Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. (medscape.com)
Otter M, Crins PML, Campforts BCM, Stumpel CTRM, van Amelsvoort TAMJ, Vingerhoets C. Social functioning and emotion recognition in adults with triple X syndrome. (medlineplus.gov)

Cette thèse a comme objectif général d'approfondir notre connaissance des déterminants environnementaux de la fécondité des arbres forestiers et de leurs interactions, en se focalisant sur le chêne vert, une espèce très répandue en milieu méditerranéen. (cnrs.fr)
Understanding the intricate functions and interactions of autosomes is crucial for unraveling the complexities of human genetics and advancing personalized medicine. (biologyonline.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)

In addition to functioning during chromosome-microtubule coupling, Cdt1, has also been shown to be important for DNA replication. (northwestern.edu)
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. (lookformedical.com)

Biologists have discovered that dosage compensation does not occur in the reproductive cells of male fruit flies. (sciencedaily.com)
The absence of H4K16ac suggests that dosage compensation does not take place. (biomedcentral.com)

After implantation, a secondary DMR is established at the promoter of the Gtl2 gene, sustaining its repression from the paternal allele. (nature.com)
During evolution, CpG rich regions, so-called CpG islands, have been established as prominent features of promoter regions of genes. (caister.com)

In bi-parental diploid cells is expressed from the maternal whereas is expressed from the … Other good examples for monoallelic manifestation in mammals consist of allelic exclusion of immunoglobulin loci [36] T-cell receptor genes and olfactory receptor genes. (molecularcircuit.com)

The progression of precancerous lesions to malignancy is often accompanied by increasing complexity of chromosomal alterations but how these alterations arise is poorly understood. (bvsalud.org)
This paper analyzed alterations in the KRAS gene in pancreas fine needle aspirates (FNAs) using digital PCR (dPCR). (takarabio.com)

There is ample evidence for the preservation of multiple gene copies due to selection for increased gene dosage in diverse organisms [ 20 ]. (biomedcentral.com)
Research evidence indicates that a gene (i.e. (biologyonline.com)

Sperm samples not leading to a pregnancy, in particular in the OAT group, had significantly more epimutations in the paternally methylated GTL2 gene than samples leading to a live birth. (uni-wuerzburg.de)

Fig. 3: Cancer-type specificity of neoloop-involved genes. (nature.com)

In addition, gene dosage effects play a significant role. (wikipedia.org)
The papers in the third group describe the results of experiments studying the influence of LSD on the genes, and its mutagenic effects. (druglibrary.net)

Interestingly, genes involved in regulation are preferentially retained. (wikipedia.org)
In Saccharomyces cerevisiae , meiotic DSBs preferentially occur at nucleosome-depleted regions in gene promoters (Ohta et al. (springer.com)

Here, we show that truncation of the KRAB domain of mouse PRDM9 leads to loss of PRDM9 function and altered meiotic prophase and gametogenesis. (springer.com)
They are consistent with an absence of dosage compensation of the X chromosome during the male meiotic prophase. (biomedcentral.com)

A homeobox-containing transcription factor that functions in INSULIN-SECRETING CELLS. (bvsalud.org)

The latter is expected if larger CNVs are more likely to encompass genes under selection for a change in gene dosage. (biomedcentral.com)

Anatomy11

Organisms10

Diseases17

Chemicals and Drugs31

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Phenomena and Processes75

Information Science3

Chromosomes22

Mutations7

Instability11

Aberrations9

Genomic4

Genome16

Deletions2

Duplications2

Balanced gene expression1

Deleterious1

Deletion4

Chromatin4

Proteins6

Autosomal genes2

Genetic10

Drosophila2

Metrics1

Phenotypes4

Copy-number va2

Amplification2

Genomes1

Developmental3

Rearrangements1

Mechanism3

Tumor8

Inactivation1

Expression26

Disrupt1

Epigenetic5

Abnormalities1

Methylation2

INDICATIONS1

Mutation3

Imbalance1

Occurs3

Encodes2

Protein3

Adaptive1

Cluster1

Recurrent1

Aneuploidies1

Syndrome2

Interactions2

Dysfunctional1

Replication2

Compensation does not2

Promoter2

Monoallelic1

Alterations2

Evidence2

Gtl21

Specificity1

Effects2

Preferentially2

Meiotic prophase2

Cells1

CNVs1