Protein chromosomal position effects. Medical search. Frequent questions

The biological processes impacted by epigenetics are vast and encompass effects in lower organisms and humans that include tissue and organ regeneration, X-chromosome inactivation, stem cell differentiation, genomic imprinting, and aging. (elsevier.com)
Chromosome 10 likely contains 700 to 800 genes that provide instructions for making proteins. (medlineplus.gov)
The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 10. (medlineplus.gov)
The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26. (medlineplus.gov)
People with 10q26 deletion syndrome are missing between 3.5 million and 17 million DNA building blocks (base pairs), also written as 3.5 and 17 megabases (Mb), at position q26 on chromosome 10. (medlineplus.gov)
Other changes in the number or structure of chromosome 10 can have a variety of effects. (medlineplus.gov)
Studies of position-effect variegation have revealed that heterochromatic and euchromatic domains are interspersed on chromosome 4, and both cytological and biochemical studies have demonstrated that chromosome 4 is associated with heterochromatic marks, such as heterochromatin protein 1 and histone 3 lysine 9 methylation. (wustl.edu)
Chromosome 4 is also marked by POF (painting-of-fourth), a chromosome 4-specific chromosomal protein, and utilizes a dedicated histone methyltransferase, EGG. (wustl.edu)
Our findings raise the possibility that the presence or absence of the X chromosome in mammals affects the establishment of the epigenetic state at autosomal loci by acting as a sink for proteins involved in gene silencing. (edu.au)
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)
Gene organization in the bacterial chromosome has very well known effects on transcription and a standard example is the organization of genes into operons, which allows for a sophisticated regulation of gene expression [ 9 ]. (biomedcentral.com)
Immunofluorescence, chromosome and micronuclei enumeration, MTT and colony formation assays were used to determine the effects of AP4 inactivation and target gene regulation on chromosomal instability (CIN) and drug sensitivity. (biomedcentral.com)

The family of heterochromatin protein 1 (HP1) ("Chromobox Homolog", CBX) consists of highly conserved proteins, which have important functions in the cell nucleus. (wikipedia.org)
HP1 proteins are fundamental units of heterochromatin packaging that are enriched at the centromeres and telomeres of nearly all eukaryotic chromosomes with the notable exception of budding yeast, in which a yeast-specific silencing complex of SIR (silent information regulatory) proteins serve a similar function. (wikipedia.org)
In Arabidopsis thaliana (a plant), there is one structural homolog: Like Heterochromatin Protein 1 (LHP1), also known as Terminal Flower 2 (TFL2). (wikipedia.org)
He collaborated with the Gunter Reuter laboratory at the Martin Luther Universitat, Germany, on the identification of novel proteins involved in heterochromatin formation later identified as histone deacetylases. (hstalks.com)
Functional mammalian homologues of the Drosophila PEV-modifier Su(var)3-9 encode centromere-associated proteins which complex with the heterochromatin component M31. (embl-heidelberg.de)
Recently, several chromatin-related proteins have been shown to regulate ESC pluripotency and/or differentiation, yet the role of the major heterochromatin proteins in pluripotency is unknown. (biomedcentral.com)
Here we identify Heterochromatin Protein 1β (HP1β) as an essential protein for proper differentiation, and, unexpectedly, for the maintenance of pluripotency in ESCs. (biomedcentral.com)
Removal of the H3K9me binding protein PaHP1 provided further support to the notion that each type of heterochromatin requires the presence of the other. (biomedcentral.com)

HP1 was originally discovered by Tharappel C James and Sarah Elgin in 1986 as a factor in the phenomenon known as position effect variegation in Drosophila melanogaster. (wikipedia.org)
Michael O'Grady obtained a BS in zoology from the University of Central Arkansas, followed by graduate work on the identification of Ecdysone Response Elements in the Larval Serum Protein promoter of Drosophila melanogaster. (hstalks.com)
Based on sequence information from the SET domain, we have isolated human (SUV39H1) and mouse (Suv39h1) homologues of the dominant Drosophila modifier of position-effect-variegation (PEV) Su(var)3-9. (embl-heidelberg.de)
First identified in Drosophila, the conserved Polycomb group (Pc-G) protein complexes were shown to be both writers (Polycomb Repressive Complex 2, PRC2) and readers (Polycomb Repressive Complex 1, PRC1) of H3K27me3 [ 19 , 20 , 21 ]. (biomedcentral.com)

The chromo and SET domains are conserved sequence motifs present in chromosomal proteins that function in epigenetic control of gene expression, presumably by modulating higher order chromatin. (embl-heidelberg.de)

Finally, around 5% of patients have loss of function mutations in the UBE3A gene, a gene encoding E6-AP, a ubiquitin protein ligase. (bmj.com)
Linkage analysis reveals that the mutations map to unique chromosomal locations. (edu.au)
We have studied the effect of five of the mutations on expression of an endogenous allele known to be sensitive to epigenetic state, agouti viable yellow. (edu.au)
Like the Butterfly effect, these somatic mutations lead to a series of regulatory function changes, including gene expression dysregulation. (hep.com.cn)
hypothesized that associations between gene expression and somatic mutations can be translated into the associations between gene expression and mutational signatures for showing the regulation effects between somatic mutation and gene expression dysregulation. (hep.com.cn)
For example, groups of multiple SNPs tend to be inherited together, and "piggy-back" mutations appear as an effect of chromosomal recombination. (blogspot.com)
Specifically, we focused on understanding the disease mechanisms and studied two of the most common chromosomal translocations, or genetic mutations, that lead to pediatric leukemia. (lu.se)

DNA methylation, a form of epigenetic control of gene transcription, refers to cytosine methylation at position 5 in the pyrimidine ring, which can result in inappropriate silencing of genes involved in diverse biological processes, including cell proliferation, apoptosis, migration and cell cycle arrest ( 5 ). (spandidos-publications.com)
We applied novel statistical tools for polygenic architectures to investigate if there are common genes for depression, coronary artery disease and cardiovascular risk factors (body mass index, blood pressure, lipids, type 2 diabetes and c-reactive protein). (plos.org)
To exert stimulatory or repressive effects on transcription, accessible regulatory DNA elements must be in close spatial proximity to susceptible genes. (biomedcentral.com)
In this review, we showcase recent studies on the splicing and AS of key genes in metabolic pathways in the liver, the effect of metabolic signals on the spliceosome, and therapeutic intervention points based on RNA splicing. (imperial.ac.uk)
10% transformation frequency), which reside in genes undergoing strong diversifying selection that encode large membrane proteins, likely as an immune invasion tactic. (drexel.edu)

Loci associated with increased risk for depression were also associated with increased risk of coronary artery disease and higher total cholesterol, low-density lipoprotein and c-reactive protein levels, while there was a mixed pattern of effect direction for the other risk factors. (plos.org)
We have generated high-resolution genome-wide maps of transformation, finding massive variation in rates at different chromosomal loci. (drexel.edu)

This information is based on mapping of SMART genomic protein database to KEGG orthologous groups. (embl-heidelberg.de)
Genomic studies on bacteria have clearly shown the existence of chromosomal organization as regards, for example, to gene localization, order and orientation. (biomedcentral.com)
Along with co-ordinate (location) details of S/MARs, the dataset also revealed details of S/MAR features, namely, length, inter-SMAR length (the chromatin loop size), nucleotide repeats, motif abundance, chromosomal distribution and genomic context. (researchgate.net)

The Nijmegen Breakage Syndrome is a chromosomal instability disorder characterized by microcephaly, growth retardation, immunodeficiency, and increased frequency of cancers. (biomedcentral.com)
Inactivation of AP4 in CRC cell lines resulted in increased spontaneous and c-MYC-induced DNA damage, chromosomal instability (CIN) and cellular senescence. (biomedcentral.com)

Recombinase-mediated site-specific gene integration into a predetermined chromosomal locus may enable predictable protein expression, reducing the laborious process of cell screening. (elsevierpure.com)
Silencing at mating locus HMR requires silencers, and one of the roles of the silencer is to recruit Sir proteins. (sdbonline.org)

Some of these HP1 interacting partners are: histone H1, histone H3, histone H4, histone methyltransferase, DNA methyltransferase, methyl CpG binding protein MeCP2, and the origin recognition complex protein ORC2. (wikipedia.org)

Moreover, transcriptomic analyses have demonstrated that, in free-living bacteria, gene transcription levels and chromosomal organization are mutually influenced. (biomedcentral.com)
This is a perfect illustration of the mutual influence between gene expression levels and chromosomal organization in bacteria. (biomedcentral.com)
This pathway, called "natural transformation," is a major mechanism of gene transfer across bacteria and has a profound effect on genome evolution, including spreading antibiotic resistances and other virulence determinants. (drexel.edu)
In this project you will develop computational methods for assembling fragmented (noisy) optical DNA maps into full chromosomal maps for bacteria. (lu.se)

Colony formation, β-gal staining, immunofluorescence, comet and homologous recombination (HR) assays and RNA-Seq analysis were used to determine the effects of AP4 inactivation. (biomedcentral.com)
This protein plays a pivotal role in DNA recombination and repair. (medscape.com)

In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
The American College of Medical Genetics and the American Academy of Pediatrics advocate all kids presenting with developmental delay have a chromosomal microarray, which would not solely pick up a gross chromosomal deletion as in the youngster within the vignette, but additionally microdeletions that could possibly be simply missed on a high resolution karyotype. (ehd.org)
The most common mutation is the deletion of 6 nucleotides at position 2281 and their replacement with 7 others, which occurs most commonly in Ashkenazi Jews. (medscape.com)

These characteristics correlate with a distinct nuclear architecture, epigenetic signatures enriched for active chromatin marks and hyperdynamic binding of structural chromatin proteins. (biomedcentral.com)
Hence, TADs are believed to represent structural chromosomal units that are of functional importance for the regulatory cross talk that determines gene expression programs. (biomedcentral.com)

With the development and progression of MM, several distinct patterns of genetic aberration are recognized, including cytogenetic abnormalities, chromosomal aberration and signaling pathway disorders ( 4 ). (spandidos-publications.com)

We have explored the possible conservation of relationships between mRNA abundances and chromosomal organization in the highly reduced genome of Buchnera aphidicola , the primary endosymbiont of the aphids, and a close relative to Escherichia coli . (biomedcentral.com)
Despite an important reduction in its genome size and an apparent decay of its capacity for regulating transcription, this work reveals a significant correlation between mRNA abundances and chromosomal organization of the aphid-symbiont Buchnera . (biomedcentral.com)
Recent studies into pre-mRNA splicing and alternative splicing (AS) and their effects on gene expression have revealed considerable transcriptional complexity in the liver, both in health and disease. (imperial.ac.uk)

In this pathway HP1 acts as a mediator protein for repression of alternative splicing of the EDA exon. (wikipedia.org)

The most generally accepted hypothesis is that co-directional collisions on the leading strand have a weaker effect on RNA polymerase processivity than the head-on collisions occurring on the lagging strand. (biomedcentral.com)

This result is consistent with the previous finding that the regulatory effect of MipZ is specific for its dimeric form and that only the dimeric form contacts DNA and FtsZ. (mpg.de)

Another example is the significant effect of DNA supercoiling on transcription. (biomedcentral.com)
The presence of antitumor antibiotics within the structure of DNA induced failure to replicate DNA, impaired protein production through interference with transcription of messenger RNA, and chromosomal strand breaks caused by interference with the unwinding of DNA via topoisomerase. (vin.com)
The effect of transcription factor binding on changes in nucleosome position during flower development. (mpg.de)

The HP1 protein isoforms are required for DNA repair of these damages. (wikipedia.org)
The presence of the HP1 protein isoforms at DNA damages assists with the recruitment of other proteins involved in subsequent DNA repair pathways. (wikipedia.org)

Melphalan produces chromosomal aberrations in vitro and in vivo and, therefore, should be considered potentially mutagenic in humans. (nih.gov)
In humans, this protein is encoded by the Cxcl1. (wikidoc.org)
There were no effects on the fertility of female or male rats at exposures to NHC (the active moiety of molnupiravir) about 2 and 6 times higher, respectively, than in humans receiving the recommended dose (see section 5.3). (who.int)

There are 16430 PostSET domains in 16148 proteins in SMART's nrdb database. (embl-heidelberg.de)

Genetics is not just DNA, rather a very complicated hierarchy of interactions, mechanisms, and cascade effects. (blogspot.com)

A 2005 BMC Cancer paper on combining RNAi and protein kinase inhibitors has achieved the designation of highly accessed on BioMed Central. (hstalks.com)
This chromosomal abnormality is found only in cancer cells. (medlineplus.gov)
The abnormal protein produced from this fused gene signals cells to divide without control or order, leading to the development of cancer. (medlineplus.gov)
The differences outlined above, coupled with requests from the public, other agencies, and the private sector for a statement reflecting the Agency's position on science and science policy issues related to cancer, prompted the development of this policy framework. (cdc.gov)
The purpose of the ATSDR Cancer Policy Framework is to define scientifically credible, internally consistent policy positions to guide ATSDR's activities that address the public health implications of exposure to carcinogens. (cdc.gov)
Identification and validation of a novel zinc finger protein-related gene-based prognostic model for breast cancer. (cdc.gov)

We studied single nucleotide polymorphisms chromosomal markers for B. anthracis . (cdc.gov)

Approximately 30% of melphalan is (covalently) irreversibly bound to plasma proteins. (nih.gov)

The binding of the K9me3-modified H3 N-terminal tail by the chromodomain is a defining feature of HP1 proteins. (wikipedia.org)

Immunodetection of endogenous Suv39h1/SUV39H1 proteins in a variety of mammalian cell lines reveals enriched distribution at heterochromatic foci during interphase and centromere-specific localization during metaphase. (embl-heidelberg.de)
This alternation results in a dynamic localization cycle, in which MipZ continuously oscillates between non-specific chromosomal DNA and the polarly localized ParB protein. (mpg.de)

The effect of Buchnera genome evolution on gene expression levels has also been analysed in order to assess the constraints imposed by the obligate symbiosis with aphids, underlining the importance of some gene sets for the survival of the two partners. (biomedcentral.com)

The effect of the promoter variant was further studied by luciferase gene reporter assay in MCF-7, HEK293, HeLa and LNCaP cell lines. (biomedcentral.com)

The histone H2A.F/Z (H2AZ) variant is a functionally distinct, highly conserved histone subgroup that likely represents a separate evolutionary lineage of histone H2A proteins. (sdbonline.org)
Finally, a study of the evolutionary origins of human protein coding variants reports that 86% of putative deleterious variants are of very recent origin (5,000-10,000 years) [10] . (prolekarniky.cz)

The condensation of eukaryotic DNA in arrays of nucleosomes has a profound effect on gene function. (sdbonline.org)

Although a series of production processes have been refined to improve protein productivity and cost performance, establishing producer cells is still time-consuming and labor-intensive. (elsevierpure.com)
The cyber twins can be used to simulate complex biological processes and deduce effects of medical treatments. (hep.com.cn)

The recently cloned SLC2A10 gene encodes a 541 amino acid putative facilitative glucose transporter (GLUT10) of the GLUT family class III with between 30 and 34% amino acid homology with the known GLUT proteins ( 1 , 2 ). (diabetesjournals.org)
BLM encodes 1417 amino acids that code for a protein in the nuclear matrix of growing cells, which is a member of the RecQ family of helicases. (medscape.com)

HP1 interacts with numerous other proteins/molecules (in addition to H3K9me3) with different cellular functions in different organisms. (wikipedia.org)

Identification of LncRNA LN022 Binding Proteins and Functional Analysis of the Sequence Adjacent to the 3' End of the LN022 Coding Sequence. (mpg.de)

Women planning to become pregnant should avoid all alcohol consumption, smoking, and use of illegal drugs (eg, cocaine) before and during the pregnancy, because these activities may have serious deleterious effects on the fetus. (medscape.com)

One of the few antigens against which mammals develop protective immunity is the highly polymorphic OspC protein, encoded by the ospC gene on the cp26 plasmid. (cdc.gov)
By means of DNA sequencing of a large sample collection of the pathogen from across the United States, we studied the gene for the bacterium's highly diverse OspC protein, protective immunity against which develops in animals. (cdc.gov)

However, in differentiated cells, loss of HP1β has the opposite effect, perturbing maintenance of the differentiation state and facilitating reprogramming to an induced pluripotent state. (biomedcentral.com)
Estrogens are important regulators of growth and differentiation in (range, 0 -9 fmol/mg protein, median 0.7). (lu.se)

200 nucleotides, which possess little to no capacity for protein synthesis ( 8 ). (spandidos-publications.com)

These proteins perform a variety of different roles in the body. (medlineplus.gov)

the final two positions (L111 and H106) are found in small hydrophobic core regions in each subunit. (nature.com)

We combine structure-based protein engineering and molecular genetics to restrict the activity of the potentially toxic endonuclease to spermatogenesis. (nature.com)
The effect on scFv-Fc productivity of PE position and orientation within the transgene was evaluated, while keeping the background chromosomal structure constant. (elsevierpure.com)
Molecular analysis suggested that Esc2p contributed to silencing in a manner similar to Sir1p and probably helped recruit or stabilize the other Sir proteins, while Htz1p present at HMR assembled a specialized chromatin structure necessary for silencing (Dhillon, 2000). (sdbonline.org)
Simplified lattice-based models provide a means for exploring the basics of the sequence-structure relationship of proteins. (lu.se)

In addition, Suv39h1/SUV39H1 proteins associate with M31, currently the only other characterized mammalian SU(VAR) homologue. (embl-heidelberg.de)

Chinese hamster ovary (CHO) cells are one of the most useful host cell lines for the production of biopharmaceutical proteins. (elsevierpure.com)
Third, ToolGen argued that 'applicants lysed the cells before DNA extraction such that they left the Cas9 protein active to cleave DNA outside of intact cells, as opposed to within the eukaryotic cell as required by Count 1' and 'a POSA would understand that any cleavage shown in the gel results cannot confirm that cleavage occurred within eukaryotic cells. (patentdocs.org)
They thought that inefficient removal of peroxide might be responsible for the high rates of sister chromatid exchange and chromosomal damage in Bloom syndrome cells. (medscape.com)

These agents also form covalent cross-links in DNA, more typically at the 0-6 position of guanine as the most important DNA adduct site, and have the primary adverse effects of myelosuppression and GI toxicity. (vin.com)
Analyzing the subcellular distribution of the mutant proteins as well as their ability to support division site placement, we identified four clusters of residues that are important for MipZ activity. (mpg.de)
Toward this objective, ChIP-Seq data of 14 S/MAR binding proteins were analyzed and the binding site coordinates of these proteins were used to prepare a non-redundant S/MAR dataset of human genome. (researchgate.net)

As a consequence, experimental optical DNA maps are typically not complete representations of the chromosomal DNA sequence. (lu.se)

Anatomy1

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Phenomena and Processes4

Chromosome12

Heterochromatin8

Drosophila4

Conserved sequence1

Mutations7

Genes5

Loci2

Genomic3

Instability2

LOCUS2

Methyl CpG binding1

Bacteria4

Recombination2

Deletion3

Structural2

Disorders1

MRNA3

Pathway1

Leading strand1

Regulatory1

Transcription3

Isoforms2

Humans3

Domains1

Interactions1

Cancer6

Markers1

Bound1

Chromodomain1

Localization2

Genome evolution1

Promoter1

Evolutionary2

Profound effect1

Processes2

Amino2

Cellular1

Identification1

Deleterious1

Highly2

Differentiation2

Nucleotides1

Roles1

Found1

Structure4

Addition1

Cells3

Site3

Typically1