The effects on gene expression that depend on the location of a gene with respect to its neighboring genes and region of chromosome. Stable position effects are sequence dependent. Variegated position effects depend on whether the gene is located in or adjacent to HETEROCHROMATIN or EUCHROMATIN.
Color of the iris.
Any method used for determining the location of and relative distances between genes on a chromosome.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
Repetitive nucleic acid sequences that are principal components of the archaeal and bacterial CRISPR-CAS SYSTEMS, which function as adaptive antiviral defense systems.
Protein components of the CRISPR-CAS SYSTEMS for anti-viral defense in ARCHAEA and BACTERIA. These are proteins that carry out a variety of functions during the creation and expansion of the CRISPR ARRAYS, the capture of new CRISPR SPACERS, biogenesis of SMALL INTERFERING RNA (CRISPR or crRNAs), and the targeting and silencing of invading viruses and plasmids. They include DNA HELICASES; RNA-BINDING PROTEINS; ENDONUCLEASES; and RNA and DNA POLYMERASES.
Adaptive antiviral defense mechanisms, in archaea and bacteria, based on DNA repeat arrays called CLUSTERED REGULARLY INTERSPACED SHORT PALINDROMIC REPEATS (CRISPR elements) that function in conjunction with CRISPR-ASSOCIATED PROTEINS (Cas proteins). Several types have been distinguished, including Type I, Type II, and Type III, based on signature motifs of CRISPR-ASSOCIATED PROTEINS.
Copies of nucleic acid sequence that are arranged in opposing orientation. They may lie adjacent to each other (tandem) or be separated by some sequence that is not part of the repeat (hyphenated). They may be true palindromic repeats, i.e. read the same backwards as forward, or complementary which reads as the base complement in the opposite orientation. Complementary inverted repeats have the potential to form hairpin loop or stem-loop structures which results in cruciform structures (such as CRUCIFORM DNA) when the complementary inverted repeats occur in double stranded regions.
Repair of DNA DAMAGE by exchange of DNA between matching sequences, usually between the allelic DNA (ALLELES) of sister chromatids.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.
A publication issued at stated, more or less regular, intervals.
"The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.
The premier bibliographic database of the NATIONAL LIBRARY OF MEDICINE. MEDLINE® (MEDLARS Online) is the primary subset of PUBMED and can be searched on NLM's Web site in PubMed or the NLM Gateway. MEDLINE references are indexed with MEDICAL SUBJECT HEADINGS (MeSH).
Publications in any medium issued in successive parts bearing numerical or chronological designations and intended to be continued indefinitely. (ALA Glossary of Library and Information Science, 1983, p203)
All of the divisions of the natural sciences dealing with the various aspects of the phenomena of life and vital processes. The concept includes anatomy and physiology, biochemistry and biophysics, and the biology of animals, plants, and microorganisms. It should be differentiated from BIOLOGY, one of its subdivisions, concerned specifically with the origin and life processes of living organisms.
A family of multisubunit cytoskeletal motor proteins that use the energy of ATP hydrolysis to power a variety of cellular functions. Dyneins fall into two major classes based upon structural and functional criteria.
Dyneins that are responsible for ciliary and flagellar beating.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
High molecular weight proteins found in the MICROTUBULES of the cytoskeletal system. Under certain conditions they are required for TUBULIN assembly into the microtubules and stabilize the assembled microtubules.
A 20 cM region of mouse chromosome 17 that is represented by a least two HAPLOTYPES. One of the haplotypes is referred to as the t-haplotype and contains an unusual array of mutations that affect embryonic development and male fertility. The t-haplotype is maintained in the gene pool by the presence of unusual features that prevent its recombination.
Dyneins that are responsible for intracellular transport, MITOSIS, cell polarization, and movement within the cell.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
Maintenance of TELOMERE length. During DNA REPLICATION, chromosome ends loose some of their telomere sequence (TELOMERE SHORTENING.) Various cellular mechanism are involved in repairing, extending, and recapping the telomere ends.
The loss of some TELOMERE sequence during DNA REPLICATION of the first several base pairs of a linear DNA molecule; or from DNA DAMAGE. Cells have various mechanisms to restore length (TELOMERE HOMEOSTASIS.) Telomere shortening is involved in the progression of CELL AGING.
An essential ribonucleoprotein reverse transcriptase that adds telomeric DNA to the ends of eukaryotic CHROMOSOMES.
The sensory interpretation of the dimensions of objects.
The physical measurements of a body.
Proteins that specifically bind to TELOMERES. Proteins in this class include those that perform functions such as telomere capping, telomere maintenance and telomere stabilization.
The act of ligating UBIQUITINS to PROTEINS to form ubiquitin-protein ligase complexes to label proteins for transport to the PROTEASOME ENDOPEPTIDASE COMPLEX where proteolysis occurs.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The artificial induction of GENE SILENCING by the use of RNA INTERFERENCE to reduce the expression of a specific gene. It includes the use of DOUBLE-STRANDED RNA, such as SMALL INTERFERING RNA and RNA containing HAIRPIN LOOP SEQUENCE, and ANTI-SENSE OLIGONUCLEOTIDES.
A highly conserved 76-amino acid peptide universally found in eukaryotic cells that functions as a marker for intracellular PROTEIN TRANSPORT and degradation. Ubiquitin becomes activated through a series of complicated steps and forms an isopeptide bond to lysine residues of specific proteins within the cell. These "ubiquitinated" proteins can be recognized and degraded by proteosomes or be transported to specific compartments within the cell.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
Genes that determine the fate of a cell or CELLS in a region of the embryo during EMBRYONIC DEVELOPMENT.
Graphic representations, especially of the face, of real persons, usually posed, living or dead. (From Thesaurus for Graphic Materials II, p540, 1995)
Elements of residence that characterize a population. They are applicable in determining need for and utilization of health services.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
Cis-acting DNA sequences which can increase transcription of genes. Enhancers can usually function in either orientation and at various distances from a promoter.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

Role for perinuclear chromosome tethering in maintenance of genome stability. (1/41)

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Stwl modifies chromatin compaction and is required to maintain DNA integrity in the presence of perturbed DNA replication. (2/41)

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Telomeric position effect--a third silencing mechanism in eukaryotes. (3/41)

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Corepressive action of CBP on androgen receptor transactivation in pericentric heterochromatin in a Drosophila experimental model system. (4/41)

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Linker histone H1 is essential for Drosophila development, the establishment of pericentric heterochromatin, and a normal polytene chromosome structure. (5/41)

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The sea urchin sns5 insulator protects retroviral vectors from chromosomal position effects by maintaining active chromatin structure. (6/41)

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Developmentally regulated MAPK pathways modulate heterochromatin in Saccharomyces cerevisiae. (7/41)

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Drosophila mini-white model system: new insights into positive position effects and the role of transcriptional terminators and gypsy insulator in transgene shielding. (8/41)

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While Su(var)3-9, Su(var)3-7, and HP1a reciprocal interactions are well documented at pericentric regions (Schotta et al. 2002; Greil et al. 2003; Danzer and Wallrath 2004) they are not universal. For example, HP1 binding on the fourth chromosome has been shown to be independent of Su(var)3-9 (Schotta et al. 2002), and Danzer and Wallrath (2004) using a tethering system to recruit HP1a to euchromatic sites have shown that HP1a-mediated silencing can operate in a Su(var)3-9-independent manner. Moreover, Deng et al. (2007) have provided evidence that at least two different molecular mechanisms regulate Su(var)3-9 localization, one dependent on HP1 and one dependent on the JIL-1 kinase. These findings indicate that although Su(var)3-9, Su(var)3-7, and HP1a cooperate in heterochromatin formation and gene silencing at pericentric chromosome sites, they may function independently at other regions such as the chromosome arms. In this study we show that the lethality but not the chromosome morphology ...
Deleteriousness scores show different position effects among TSS classes.BCS values are plotted on the same region for rare (black line), mid1 (red line), mid2
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I previously used plink to generate map and ped files for our data pipeline, but the lab director now wants me to try bcftools because plink is slow and doesnt work when two genes are the same. So I was wondering how I can generate information similar to what plink .ped and .map file contains in bcftools? Any help would be greatly appreciated.. ...
Nuclear topology, in particular, the 3D landscape of the genome within the nucleus, has come into focus as a regulator of genome activity [1] with heterochromatin as a key player [2-4]. First evidence that heterochromatin might be a silencing compartment was provided by Muellers position effect variegation (PEV) experiments in 1930 [5], demonstrating that rearrangement of genes near the heterochromatin in Drosophila causes gene silencing. Position effect variegation affects genes on the same chromosome (cis) as well as genes on different chromosomes (trans) [6]. Moreover, the effects of heterochromatin on gene activity were suggested in, e.g., mouse [7-9], Drosophila melanogaster [10], Caenorhabditis elegans [11], Saccharomyces cerevisiae [12] Schizosaccharomyces pombe [13] and in Plasmodium falciparum [14], and seem to be an evolutionarily conserved feature [15, 16].. Heterochromatin can be found in essentially all eukaryotes, but its distribution and composition differ from species to ...
Geneticists use maps to describe the location of a particular gene on a chromosome. One type of map uses the cytogenetic location to describe a genes position. The cytogenetic location is based on a distinctive pattern of bands created when chromosomes are stained with certain chemicals. Another type of map uses the molecular location, a…
热塑性管道系统 埋地无压污水用接头 通过估计密封压力对热塑弹性塑料(TPE)密封接头的长时间密封性能的 ...
Video created by 墨尔本大学 for the course 基因表达的表观遗传调控. X chromosome inactivation is a really well-characterised epigenetic process that is now used as a model system to study epigenetic processes that are relevant more broadly. This is because it ...
Nucleic Acids Res. 2013 Feb 1;41(3):1406-15. doi: 10.1093/nar/gks1286. Epub 2012 Dec 14. Evaluation Studies; Research Support, Non-U.S. Govt
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Heterochromatin, Drosophila, Drosophila Melanogaster, Chromatin, Gene, Chromosome, Genome, Histone, Proteins, Chromosomes, Maintenance, Methylation, Mutations, Position Effect Variegation, Egg, Lysine, Plays, Role, Chromosome 4, Euchromatin
Transcription steps are marked by different modifications of the C-terminal domain of RNA polymerase II (RNAPII). Phosphorylation of Ser5 and Ser7 by cyclin-dependent kinase 7 (CDK7) as part of TFIIH marks initiation, whereas phosphorylation of Ser2 by CDK9 marks elongation. These processes are thought to take place in localized transcription foci in the nucleus, known as transcription factories, but it has been argued that the observed clusters/foci are mere fixation or labeling artifacts. We show that transcription factories exist in living cells as distinct foci by live-imaging fluorescently labeled CDK9, a kinase known to associate with active RNAPII. These foci were observed in different cell types derived from CDK9-mCherry knock-in mice. We show that these foci are very stable while highly dynamic in exchanging CDK9. Chromatin immunoprecipitation (ChIP) coupled with deep sequencing (ChIP-seq) data show that the genome-wide binding sites of CDK9 and initiating RNAPII overlap on transcribed genes.
Friedreichs ataxia (FRDA) is caused by a GAA repeat expansion in the Frataxin gene causing its repression which resembles the archetypal epigenetic phenomenon of Position Effect Variegation and hence can be modulated by chromatin modifiers The investigators have now confirmed that a similar form of silencing occurs in cells from FRDA patients. Based on these findings histone deacetylase (HDAC) inhibitors which can overcome such silencing have been identified. The investigators have extended this result by showing that the classical Class III HDAC inhibitor, nicotinamide, can relieve silencing in cells from patients. Nicotinamide is a vitamin and a registered drug and has been previously administered to humans with no significant ill effects.. In the interventional study, the investigators will perform pharmacodynamic studies on nicotinamide in humans with FRDA to investigate whether the investigators can upregulate Frataxin and if so, to determine an optimum dosing regimen. Nicotinamide will be ...
Friedreichs ataxia (FRDA) is caused by a GAA repeat expansion in the Frataxin gene causing its repression which resembles the archetypal epigenetic phenomenon of Position Effect Variegation and hence can be modulated by chromatin modifiers The investigators have now confirmed that a similar form of silencing occurs in cells from FRDA patients. Based on these findings histone deacetylase (HDAC) inhibitors which can overcome such silencing have been identified. The investigators have extended this result by showing that the classical Class III HDAC inhibitor, nicotinamide, can relieve silencing in cells from patients. Nicotinamide is a vitamin and a registered drug and has been previously administered to humans with no significant ill effects.. In the interventional study, the investigators will perform pharmacodynamic studies on nicotinamide in humans with FRDA to investigate whether the investigators can upregulate Frataxin and if so, to determine an optimum dosing regimen. Nicotinamide will be ...
A new study investigating the three-dimensional human genome (the nucleome) in the context of time and gene expression revealed unimaginable complexity and precision. The authors of the research paper, published in the Proceedings of the National Academy of Sciences, wrote at the beginning of their report, The human genome is a beautiful example of a dynamical system in three dimensions.1 The results of their research spectacularly vindicated this opening statement.. Inside a cells nucleus, the human genome functions in three dimensions, with each different chromosome occupying specific regions and conformations according to its cell type. For example, the 3D structure of a liver-cell nucleus is different than that of a brain cell. In addition, genes that are co-regulated in the same type of cellular process are often brought together in specific locations inside the nucleus called transcription factories, even if on different chromosomes.2,3,4 These transcription factories make and process ...
The image shows the cellular organization of chromosomes in the nucleus; you can observe that in the interchromatin space there is a transcription factory (in the picture: RNA transcripts) ,while around this region there are more than one active locus( of different chromosomes).Then,since the chromosomes are so close ,could happen that a traslocation appear between these active loci ...
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During gametogenesis, chromosomes may become imprinted with information which facilitates proper expression of the DNA in offspring. We have used a position effect variegation mutant as a reporter system to investigate the possibility of imprinting in Drosophila melanogaster. Genetic crosses were pe …
Variegation is the appearance of differently coloured zones in the leaves, and sometimes the stems, of plants. Variegated leaves occur rarely in nature. Species with variegated individuals are sometimes found in the understory of tropical rainforests, and this habitat is the source of a number of variegated house plants. The term is also sometimes used to refer to colour zonation in flowers, minerals, and the skin, fur, feathers or scales of animals. Because the variegation is due to the presence of two kinds of plant tissue, propagating the plant must be by a vegetative method of propagation that preserves both types of tissue in relation to each other. Typically, stem cuttings, bud and stem grafting, and other propagation methods that results in growth from leaf axil buds will preserve variegation. Cuttings with complete variegation may be difficult if not impossible to propagate. Root cuttings will not usually preserve variegation, since the new stem tissue is derived from a particular tissue ...
The trait value measured by mRNA or proteins is always a product of single gene with a specific chromosomal location. Expression QTL are empirically divided into two classes cis and trans. We identify cis-QTL region in which eQTL region is mapped to approximate location of their gene-of-origin i.e when both eQTL and gene position overlap, the eQTL is considered to be cis-regulated. While trans eQTL region are those regions which are far from the location of their gene-of-origin i.e if the eQTL and gene location are non-overlapping, eQTL is considered to be trans-acting. Any eQTL identified can be either cis regulated or trans regulated. The polymorphism of the regulatory elements directly regulates the abudance of a gene transcript. The combination of whole genome-wide association studies with the measurement of global gene expression allows the systematic identification of eQTL. Xcelris has developed a pipeline where we simultaneously assay gene expression along with the genetic variation on a ...
Epigenetic mechanisms of gene regulation-chemical and conformational changes to DNA and the chromatin that bundles it-have had an important impact on genome organization and inheritance and on cell fate. These mechanisms are conserved in eukaryotes and provide an additional layer of information superimposed on the genetic code. Robert Martienssen, a pioneer in the study of epigenetics, investigates mechanisms involved in gene regulation and stem cell fate in yeast and model plants including Arabidopsis and maize. He and his colleagues have shed light on a phenomenon called position-effect variegation, caused by inactivation of a gene positioned near densely packed chromosomal material called heterochromatin. They have discovered that small RNA molecules arising from repeating genetic sequences program that heterochromatin. Martienssen and colleagues have described a remarkable process by which companion cells to sperm in plant pollen grains provide them with instructions that protect sperm DNA ...
To elucidate the physiological basis for variegation in im seedlings, we established an in vivo, nondestructive assay to quantify the extent of variegation as a function of developmental time (Figures 3 and 4). We showed that both the rate of development of the variegated phenotype as well as the overall extent of variegation in im seedlings were strongly dependent upon growth irradiance with no variegation detected at a growth irradiance of 50 μmol photons m−2 s−1 at 25°C and an 8-h photoperiod (Figures 3B and 4A). However, our results clearly indicate that the expression of the variegated phenotype cannot be explained as a simple irradiance effect since growth at the same low irradiance combined with low temperature (12°C) (Figures 3C, 4D, and 4H) resulted in a significant increase in variegation of im seedlings.. As a consequence, the development of variegation in im seedlings appears to be a complex interaction of irradiance and temperature. We show that the extent of variegation in ...
Yeast telomeric DNA is assembled into a nonnucleosomal chromatin structure known as the telosome, which is thought to influence the transcriptional repression of genes placed in its vicinity, a phenomenon called telomere position effect (TPE). The product of the RAP1 gene, Rap1p, is a component of the telosome. We show that the fraction of cells exhibiting TPE can be substantially reduced by expressing large amounts of a deletion derivative of Rap1p that is unable to bind DNA, called Rap1 delta BBp, or by introducing extra telomeres on a linear plasmid, presumably because both compete in trans with telomeric chromatin for factor(s) important for TPE. This reduction in TPE, observed in three different strains, was demonstrated for two different genes, each assayed at a different telomere. In contrast, the addition of internal tracts of telomeric DNA on a circular plasmid had very little effect on TPE. The product of the SIR3 gene, Sir3p, appears to be limiting for TPE. Overexpression of Sir3p ...
Damir Baranasic, Timo Oppermann, Miriam Cheaib, John Cullum, Helmut Schmidt, Martin Simon: Genomic Characterization of Variable Surface Antigens Reveals a Telomere Position Effect as a Prerequisite for RNA Interference-Mediated Silencing in Paramecium tetraurelia. mBio 10/2014; 5(6). Martin Simon, Helmut Plattner: Unicellular Eukaryotes as Models in Cell and Molecular Biology: Critical Appraisal of Their Past and Future Value.. International review of cell and molecular biology 01/2014; 309C:141-198.. Miriam Cheaib, Martin Simon: Dynamic chromatin remodelling of ciliate macronuclear DNA as determined by an optimized chromatin immunoprecipitation (ChIP) method for Paramecium tetraurelia. Applied Microbiology and Biotechnology 02/2013.. Martin C Simon, Jürgen Kusch: Communicative functions of GPI-anchored surface proteins in unicellular eukaryotes. Critical Reviews in Microbiology 06/2012.. Alexandra Müller, Christine Klöppel, Megan Smith-Valentine, Judith Van Houten, Martin Simon: Selective ...
The X-IV translocation, [...], is shown to contain the wild-type allele, [...], at the white locus. This [...] has been replaced with a mutant gene, w, and a comparison of R([...])/w with R(w)/w[...] shows the former to give a variegated white phenotype while the latter is completely wild-type. It is concluded that the white variegation is due to an instability in the action of [...] when it is located in the rearranged chromosome ...
Produced while McClintock was a National Research Council fellow at the University of Missouri, this paper resulted from observations she made after receiving correspondence from researchers at Berkeley on the existence of unusual variegations in some plants. McClintock argued that variegations must have resulted from sister-strand exchanges after ring chromosomes formed early in plant development ...
Background: Hereditary canine glaucoma destroys vision in members of several dog breeds. In a previous study, the researchers collected DNA samples from large families of Basset Hounds and Bouvier des Flandres and smaller families of Dandie Dinmont Terriers and Welsh Terriers. Objective: The researchers are using these DNA samples and appropriate gene-mapping strategies to determine the chromosomal positions of the mutations responsible for glaucoma in Basset Hounds and Bouvier des Flandres. They will then use the available canine genome sequence to examine the genes that are located within these chromosomal positions to find the mutations responsible for glaucoma in these two breeds. Next they will devise DNA tests to validate the identified potential glaucoma-causing mutations; and, if the suspected mutations prove to be valid, they will immediately make the DNA tests available to breeders of Basset Hounds and Bouvier des Flandres. Finally, they will determine if the genes that contain the
It has recently been demonstrated that JIL-1 can interact directly with Su(var)3-9, and can potentially regulate the function of that protein by phosphorylating it at residue S191 (Boeke et al., 2010). However, phosphorylation of Su(var)3-9 by JIL-1 did not affect the enzymatic activity of Su(var)3-9 or its ability to repress transcription (Boeke et al., 2010) - furthermore, the direct protein-protein interaction is mediated by the C-terminus of JIL-1 (Boeke et al., 2010). As expression of the ΔCTD, which lacks this interaction domain, prevented heterochromatic spreading in a JIL-1 mutant background, it is unlikely that phosphorylation of Su(var)3-9 by JIL-1 is involved in regulating the role of Su(var)3-9 in PEV. However, an interesting possibility is that direct interactions between JIL-1 and Su(var)3-9 can contribute to other aspects of the JIL-1 null phenotype. For example, in genetic interaction assays monitoring the lethality as well as the polytene chromosome morphology defects ...
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Component of the gypsy chromatin insulator complex which is required for the function of the gypsy chromatin insulator and other endogenous chromatin insulators. Chromatin insulators are regulatory elements which establish independent domains of transcriptional activity within eukaryotic genomes. Insulators have two defining properties; they can block the communication between an enhancer and a promoter when placed between them and can also buffer transgenes from position effect variegation (PEV). Insulators are proposed to structure the chromatin fiber into independent domains of differing transcriptional potential by promoting the formation of distinct chromatin loops. This chromatin looping may involve the formation of insulator bodies, where homotypic interactions between individual subunits of the insulator complex could promote the clustering of widely spaced insulators at the nuclear periphery. Within the gypsy insulator complex, this protein may directly bind to insulator DNA at sites distinct
Silencing/ DNA methylation/Imprinting 1. Silencing mechanisms Sir2/ HP1/HP1 and DNA methylation budding yeast, fission yeast, mammals/plants 2. Insulators (boundary elements/ enhancer blocker Position effect variegation 3. DNA methylation de novo, maintenance , CpG islands functions methods of study 4. DNA demethylation plants mammals 4. Imprinting Silencing creates large domains of chromatin that are compacted and less accessible to DNA-binding proteins Silencers Silencing proteins Sir2 HP1 Polycomb group (PcG) proteins DNA Methylation noncoding RNAs Boundary elements S.c. S.p. A.th.D.m. Mamma Hypoacetyl. H3/H4 H3K9 me HP1 DNA methyl. - + + + + + - + + + +* + + + + - + - + Polycomb - - + + + Sir2 + + + + + * present but binds H3K27me notH3K9me Heterochromatin Condensed, deeply staining Regular nucleosome spacing; DNA mostly associated with histone core Gene poor Late replicating Localized at nuclear periphery Chromatin in silenced regions Tight nucleosome arrays (short linkers) Presence of ...
Regulation of gene expression by alterations in chromatin structure is a universal mechanism in eukaryotic cells, responsible for maintaining patterns of gene expression throughout the development of multicellular organisms (Orlando and Paro, 1995), for position effect variegation in flies (Henikoff, 1992) and for the variable expression of foreign genes integrated into mammalian chromosomes (Martin and Whitelaw, 1996). In the budding yeast Saccharomyces cerevisiae, gene repression at the silent mating type loci (HML and HMR) and the variegated expression of genes inserted near the poly(TG1-3) tracts at telomeres reflect a chromatin‐dependent silencing mechanism in which the accessibility of a chromosomal domain to DNA‐modifying enzymes is significantly reduced (reviewed in Thompson et al., 1993). This transcriptionally silent domain spreads inward from telomeres and is limited by the dosage of components required to form the silenced chromatin state, similar to the spread of centromeric ...
In a previous study (G. M. Wahl, B. Robert de Saint Vincent, and M. L. De Rose, Nature (London) 307:516-520, 1984), we used gene transfer of a CAD cosmid to demonstrate that gene position profoundly affects amplification frequency. One transformant, T5, amplified the donated CAD genes at a frequency at least 100-fold higher than did the other transformants analyzed. The CAD genes in T5 and two drug-resistant derivatives were chromosomally located. In this report, we show that a subclone of T5 gives rise to an extrachromosomal molecule (CAD episome) containing the donated CAD genes. Gel electrophoresis indicated that the CAD episome is approximately 250 to 300 kilobase pairs, and a variety of methods showed that it is a covalently closed circle. We show that the CAD episome replicates semiconservatively and approximately once per cell cycle. Since the CAD cosmid, which comprises most of the CAD episome, does not replicate autonomously when transfected into cells, our results indicate that either ...
BACKGROUND Heterochromatin has been reported to be a major silencing compartment during development and differentiation. Prominent heterochromatin compartments are located at the nuclear periphery and inside the nucleus (e.g., pericentric heterochromatin). Whether the position of a gene in relation to some or all heterochromatin compartments matters remains a matter of debate, which we have addressed in this study. Answering this question demanded solving the technical challenges of 3D measurements and the large-scale morphological changes accompanying cellular differentiation. RESULTS Here, we investigated the proximity effects of the nuclear periphery and pericentric heterochromatin on gene expression and additionally considered the effect of neighboring genomic features on a genes nuclear position. Using a well-established myogenic in vitro differentiation system and a differentiation-independent heterochromatin remodeling system dependent on ectopic MeCP2 expression, we first identified ...
In this weeks press round up, we focus on a Kenyan who still bears the scars of the 2007/08 PEV - physical and otherwise - and why the impulse of distrust among PEV victims still persists in Kenya.
The TPE 2003 conference programme featured expert presentations on key market trends, new application developments and the very latest material innovations.
SUV39: The Su(var)3-9 gene was originally identified in a genetic screen as a suppressor of position effect variegation in Drosophila. This was the first hint that the Su(var)3-9 protein might be involved in regulating chromatin structure. In mice, there are two highly related homologues of the Drosophila Su(var)3-9, Suv39h1 and Suv39h2. Following the identification of Suv39h1 as a lysine methyltransferase capable of methylating Lys9 of histone H3 (H3K9), confirmation that this protein can modulate chromatin architecture came with the finding that it creates a specific binding site for the heterochromatin protein HP1. As Suv39h1 and HP1 interact, it is thought that Suv39h1 methylating H3 K9, and then HP1 binding to the methylated H3, forms a positive feedback loop allowing HP1 and H3 K9 methylation to spread along chromatin, generating repressive heterochromatin in the process. (1) Reference ...
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Erasmus MC. Transcription Factors and Genomic Architecture. Recommended Readings. Empirical Articles. Ghamari, A., van de Corput, M. P., Thongjuea, S., van Cappellen, W. A., van IJcken, W., van Haren, J., … & Grosveld, F. G. (2013). In vivo live imaging of RNA polymerase II transcription factories in primary cells. Genes & Development, 27(7), 767-777. doi:10.1101/gad.216200.113. Mylona, A., Andrieu-Soler, C., Thongjuea, S., Martella, A., Soler, E., Jorna, R., … & Grosveld, F. (2013). Genome-wide analysis shows that Ldb1 controls essential hematopoietic genes/pathways in mouse early development and reveals novel players in hematopoiesis. Blood, 121(15), 2902-2913. doi:10.1182/blood-2012-11-467654. Nuez, B., Michalovich, D., Bygrave, A., Ploemacher, R., & Grosveld, F. (1995). Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene. Nature, 375(6529), 316-318.. Soler, E., Andrieu-Soler, C., de Boer, E., Bryne, J. C., Thongjuea, S., Stadhouders, R., … & Grosveld, ...
Liu Y, Song X, Gorovsky MA, Karrer KM. 2005. Elimination of foreign DNA during somatic differentiation in tetrahymena thermophila shows position effect and is dosage dependent. Eukaryot Cell 4(2):421-31 ...
The TPE 2003 conference programme featured expert presentations on key market trends, new application developments and the very latest material innovations.
This effect is created when sticky ends of chromosomes remain connected to one another, even after mitosis. A chromatin bridge ... This instability, defined as frequent changes in chromosomal structure and number, may be the basis of the development of ... Because microtubules maintain the positions of the chromosomes during mitosis, they appear to be densely pinched between the ... As a result, several forms of chromosomal aberrations occur, including, but not limited to, binucleated cells, multipolar ...
The director is Michelle Le Beau who accepted the position in 2004. Le Beau launched and implemented a strategic plan that ... UChicago accomplishments include landmark prostate cancer treatment in 1939, the identification of the first chromosomal ... abnormality in leukemia in 1972, the 1988 discovery of the molecular mechanism by which tamoxifen blocks the effects of ...
The precision with which these recombinations are mapped is a function of the number and position of the genotypes used to type ... the small number of strains only made it feasible to map quantitative traits with very large effects (quasi-Mendelian loci). ... the greater the power and resolution with which phenotypes can be mapped to chromosomal locations. The first set of eight ... For an RI strain to be useful for mapping purposes, the approximate position of recombinations along each chromosome need to be ...
The gene is located on human chromosome 12 at position p13.2 and is well-known to be involved in a large number of chromosomal ... It is assumed but not yet fully proven that the Malignant transformation effects of these two fusion proteins are due to the ... BCR is located on human chromosome 22 at position q11.23. Translocations between it and JAK2 create the t(9;22)(p24;q11) fusion ... In some rare hematological cancers, the fusion of the FGFR1 gene with certain other genes due to Chromosomal translocations or ...
In a large study of 225 patients, 82% initially responded to this therapy, although many side effects were noted. Some patients ... a patient was identified who carried a rare balanced chromosomal translocation involving chromosome 19 and the X chromosome. ... gene on chromosome 19 at cytogenetic position 19q13.2. Some previously undiagnosed relatives of DBA patients were found to ...
The common names "polocytes" and "polar bodies" derive from their polar position in the eggs. Polar bodies were characterized ... less harmful side-effects, and more sensitive in detecting abnormalities. The main advantage of the use of polar bodies in PGD ... because the formation of the first polar body influences the chromosomal makeup of the second. For example, predivision (the ... thus ensuring no deleterious effect for the embryo. One of the disadvantages of PB biopsy is that it only provides information ...
In 1938, with war on the horizon, he began looking for a permanent position back in the United States. He also began courting ... In 1919, Muller made the important discovery of a mutant (later found to be a chromosomal inversion) that appeared to suppress ... Muller's opinions on the effect of radiation on mutagenesis, however, had been criticized by some scientists; geneticist James ... After the U.S. entry into World War II, his position was extended indefinitely and expanded to include teaching. His Drosophila ...
The effect of EtBr on mitochondrial DNA is used in veterinary medicine to treat trypanosomiasis in cattle, as EtBr binds ... In the laboratory the intercalating properties have long been used to minimize chromosomal condensation when a culture is ... as it rotates about its single bond to find a position where it will impinge upon the ring system minimally. Instead, the ... Sigmon, J.; Larcom, L. L. (Oct 1996). "The effect of ethidium bromide on mobility of DNA fragments in agarose gel ...
So elevated renin levels in the blood (normally 1.98-2.46 ng/ml in the upright position) leads to hypertension. Recent studies ... These findings suggest that there are many genetic loci, in the general population, each with small effects on blood pressure. ... With the aid of genetic analysis techniques, a statistically significant linkage of blood pressure to several chromosomal ... Abboud FM (February 1974). "Effects of sodium, angiotensin, and steroids on vascular reactivity in man". FASEB J. 33 (2): 143- ...
The MinCDE system is a filament system that properly positions the septum in the middle of the cell in Escherichia coli. ... This oscillation occurs repeatedly during the cell cycle, thereby keeping MinC (and its septum inhibiting effect) at a lower ... Treponema denticola cells lacking the CfpA protein form long concatenated cells with a chromosomal DNA segregation defect, a ... MreB determines cell shape by mediating the position and activity of enzymes that synthesize peptidoglycan and by acting as a ...
... is a cross chromosomal event that results in loss of the entire gene and the surrounding chromosomal region. All diploid cells ... and these positions are called single nucleotide polymorphisms or SNPs. When the genomic copies derived from each parent have ... a sort of anti-meselson effect. Inbreeding depression Microsatellite instability Tumor suppressor gene Virtual Karyotype ... Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood. 2008 Feb 1;111(3 ...
Becskei, A; B. B. Kaufmann; A. van Oudenaarden (2005). "Contributions of low molecule number and chromosomal positioning to ... "Quantum vortices and quantum interference effects in circuits of small tunnel junctions". In 1998, he moved to Stanford ...
The success of using ZFNs in gene therapy depends on the insertion of genes to the chromosomal target area without causing ... which identified the position and function of all the genes in the human genome. As of 2019, high-throughput sequencing methods ... called off-target effects. These arise due to the spacer sequence of the gRNA conferring sufficient sequence homology to random ... FISH is often used when screening for chromosomal abnormalities such as aneuploidy, making it a useful tool when screening for ...
More recent hypotheses center on the effects of the misfolded and aggregated proteins, amyloid beta and tau. The two positions ... These genes are also highly enriched in cell adhesion Gene Ontology (GO) terms and often map to chromosomal fragile sites. The ... Iijima K, Liu HP, Chiang AS, Hearn SA, Konsolaki M, Zhong Y (2004). "Dissecting the pathological effects of human Abeta40 and ... Yankner BA, Duffy LK, Kirschner DA (1990). "Neurotrophic and neurotoxic effects of amyloid beta protein: reversal by tachykinin ...
Another part of the RNA binds to the X-chromosome positioning PRC2 such that it can methylate various regions on the X- ... A single evolutionary purpose of imprinting is still unknown, since the mechanisms and effects seem to be so diverse. One ... from a different chromosomal pair. Hox genes are genes in humans that regulate body plan development. Humans have four sets of ... This creates what is known as the "mosaic effect," in which differential X-chromosome expression creates differing genotypes ...
This is achieved by regulation of blood flow and positioning towards and away from the heat of the body by the cremasteric ... Wang C, McDonald V, Leung A, Superlano L, Berman N, Hull L, Swerdloff RS (1997). "Effect of increased scrotal temperature on ... In humans, chromosomal abnormalities arising from incorrect spermatogenesis results in congenital defects and abnormal birth ... Cameron, R. D. A.; Blackshaw, A. W. (1 May 1980). "The effect of elevated ambient temperature on spermatogenesis in the boar". ...
Perhaps pleiotropic effects of the genes acting on colour also affect the beetle's physiology, and hence its relative fitness. ... In the underlying chromosomal polymorphism, the standard (ZAL2) and alternative (ZAL2m) arrangements differ by a pair of ... Although the moths are cryptically camouflaged and rest during the day in unexposed positions on trees, they are predated by ... Sheppard Philip M.; Cook L. M. (1962). "The Manifold Effects of the Medionigra Gene in the Moth Panaxia dominula and the ...
Blood flow in the umbilical artery is seen to be twice the normal amount from about 20 weeks on so the effects of a punctured ... An ultrasound is performed before the procedure to view the position of the fetus and may be used during the procedure to help ... Currently, it can detect a number of abnormalities including pH levels, oxygen levels, chromosomal issues, and infections. In ... Blood sampling may be achieved with more ease if the placenta is in the anterior position. However, if the placenta is in the ...
Arabidopsis thaliana has multiple isoforms of Toc75 that are named by the chromosomal positions of the genes that code for them ... "Effect of chemical mutagens on nucleotide sequence". Biocyclopedia. Retrieved 24 October 2015. Alberts B (2002). Molecular ...
showcasing that addition of a purified Cas9 along with the sgRNA caused low off target effects which means that there are more ... In case of purely RNA bulges, higher Cas9 activity was induced at many positions as compared to DNA bulges. This characteristic ... creating a double-stranded chromosomal break (DSB) that summons the cell's DNA repair mechanisms (non-homologous end joining ( ... In the clinical sphere, the major concerns surround the disruption of vital coding regions leading to genotoxic effects such as ...
Annamoradnejad, Rahimberdi; Annamoradnejad, Davoud (2014). "Effects of Urbanization Law and Regulations in Iran's Geographical ... whose genetic build up including chromosomal DNA are nearly identical to the major South Caucasian ethnicities, namely the ... the Sassanid Empire from the 3rd to 7th centuries built cities and founded military garrisons to strengthen their positions in ...
Y-chromosomal haplogroups identified among the Serbs from Serbia and near countries are the following with respective ... 2010). "A major Y-chromosome haplogroup R1b Holocene effect in Central and Western Europe". European Journal of Human Genetics ... "Serbians and Montenegrins have an intermediate position on PCA plot and on Fst-based network among other Western Balkan ... 2008). "Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe". European Journal of Human ...
The net effect is that the time to complete the cell cycle varies widely over the cells in a population even when they all are ... However, the positioning of the stalk is not necessarily conserved at the pole of the cell body in different closely related ... and insertion/deletion polymorphisms at five chromosomal loci. C. crescentus is synonymous with Caulobacter vibrioides. The ... Specifically, research has shown that not only the position of the stalk can change, but the number can vary as well in the ...
Aoki K, Tamai Y, Horiike S, Oshima M, Taketo MM (2003). "Colonic polyposis caused by mTOR-mediated chromosomal instability in ... These genes play an important role in repairing incorrectly positioned nucleotides. Another gene involved in DNA mismatch ... while in the distal colon the mutant form of K-ras has the opposite effects on PKCβII expression and cell proliferation. ...
... and therefore it does not have known adverse effects besides the toxic effects described. It is however worth noting that it ... Only the remaining groups at positions C3, C4, C7, C15 vary for the different mycotoxins. In case of nivalenol each of the four ... cells by slightly increased frequencies of chromosomal aberrations and sister chromatid exchange. The DNA was damaged in CHO ... Again, this effect is reduced by NF-κB inhibition which shows, that nivalenol and NF-κB interact to influence the cell. It was ...
It is caused by a single cytosine to thymine (C -> T) base pair substitution at position 944 of the Abl gene (codon '315' of ... Nilotinib has shown effect against most mutations (32/33) that are associated with imatinib resistance but the T315I mutant ... of CML cases are caused by a chromosomal abnormality that results in the formation of a so-called Philadelphia chromosome. This ... Further study of the binding showed that the position of the sulfur that binds to the toluene structure played an important ...
Heterotopia are most commonly isolated anomalies, but may be part of a number of syndromes, including chromosomal abnormalities ... nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety ... discovered as an incidentaloma when brain imaging performed for an unrelated problem and has no apparent ill effect on the ...
Matilda effect Matthew effect Multiple discovery Priority disputes Stigler's law of eponymy Synchronicity Timeline of historic ... 1905: The chromosomal XY sex-determination system-that males have XY, and females XX, sex chromosomes-was discovered ... Neptune was found at the predicted moment and position. Bessemer Process - The process of removing impurities from steel on an ... "presented the calculated position of the[e] unseen planet [Neptune] to the French Academy of Sciences in Paris on August 31, ...
The position of the poplar admiral (L. populi), a Palearctic species, in a phylogenetic tree confirms that the poplar is the ... Whether the migration event was a single or multiple occurrence event has a significant effect on how we look at the evolution ... "Chromosomal rearrangements maintain a polymorphic supergene controlling butterfly mimicry". Nature. 477 (7363): 203-207. ... The theory proposes that initial mimicry is achieved by a single mutation that has a large effect on the phenotype, which ...
... may actually impact malaria transmission more through their effect on adult longevity than through their effect on the ... In contrast to other mosquitoes, the Anopheles larva lacks a respiratory siphon, so it positions itself so that its body is ... and vector chromosomal makeup, as well as housing type and local microclimatic conditions.[citation needed] Biting by nocturnal ... Males cannot feed on blood, as it appears to produce toxic effects and kills them within a few days, around the same lifespan ...
Arabidopsis thaliana has multiple isoforms of Toc75 that are named by the chromosomal positions of the genes that code for them ... "Effect of chemical mutagens on nucleotide sequence". Biocyclopedia. Retrieved 24 October 2015.. ...
The evolution of stalk positioning in the Caulobacter cladeEdit. Diverse positioning of the stalks. Caulobacter crescentus ( ... The net effect is that the time to complete the cell cycle varies widely over the cells in a population even when they all are ... and insertion/deletion polymorphisms at five chromosomal loci.[6] C. crescentus is synonymous with Caulobacter vibrioides.[1] ... However, the positioning of the stalk is not necessarily conserved at the pole of the cell body in different closely related ...
The position of the endospore differs among bacterial species and is useful in identification. The main types within the cell ... The core contains the spore chromosomal DNA which is encased in chromatin-like proteins known as SASPs (small acid-soluble ... quaternary ammonium compounds and detergents have little effect on endospores. However, sterilant alkylating agents such as ...
"Huang R C & Bonner J. Histone, a suppressor of chromosomal RNA synthesis. Proc. Nat. Acad. Sci. US 48:1216-22, 1962" (PDF). ... Recently it has been shown, that the addition of a serotonin group to the position 5 glutamine of H3, happens in serotonergic ... The addition of one, two, or many methyl groups to lysine has little effect on the chemistry of the histone; methylation leaves ... Hannon Bozorgmehr J (Oct 2019). "The origin of chromosomal histones in a 30S ribosomal protein". Gene. doi:10.1016/j.gene. ...
Nakano H, Ikeda T, Hayashi M, Ohshima E, Onizuka A (March 2003). "Effects of body position on snoring in apneic and nonapneic ... In this chromosomal abnormality, several features combine to make the presence of obstructive sleep apnea more likely. The ... It is designed to hold the lower jaw slightly down and forward relative to the natural, relaxed position. This position holds ... Sleeping on the supine position is also a risk factor for OSA. The supine sleeping position generates mandibular retraction and ...
Similar effects could be obtained in BDNF knockout mice, but these effects were reversed by local application of BDNF.[55] This ... and chromosomal localizations". Genomics. 10 (3): 558-68. doi:10.1016/0888-7543(91)90436-I. PMID 1889806.. ... a guanine to adenine switch at position 196, results in an amino acid switch: valine to methionine exchange at codon 66, ... BDNF is a short-term promoter,[96] but a long-term inhibitor of pain sensitivity, as a result of its effect as inducer of ...
The mechanism for this effect is not clear, but is hypothesized to be specific to cells in quiescent states, or to result from ... The second ubiquitin receptor identified to date, Rpn10, is positioned at the periphery of the lid, near subunits Rpn8 and Rpn9 ... "Isopeptide linkage between nonhistone and histone 2A polypeptides of chromosomal conjugate-protein A24". Proceedings of the ... Laurent N, de Boüard S, Guillamo JS, Christov C, Zini R, Jouault H, Andre P, Lotteau V, Peschanski M (February 2004). "Effects ...
Sep 2014). "Genetic polymorphism of 17 Y chromosomal STRs in Kazakh and Uighur populations from Xinjiang, China". Int J Legal ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... "Investigating the effects of prehistoric migrations in Siberia: genetic variation and the origins of Yakuts". Human Genetics. ... 2010). "Inferring Continental Ancestry of Argentineans from Autosomal, Y-Chromosomal and Mitochondrial DNA". Annals of Human ...
Cumulative side effects[edit]. Cumulative effects from this process should not be confused with long-term effects-when short- ... Patient positioning is crucial at this stage as the patient will have to be set-up in the identical position during treatment. ... However, double-stranded DNA breaks are much more difficult to repair, and can lead to dramatic chromosomal abnormalities and ... long-term side effects), or after re-treatment (cumulative side effects). The nature, severity, and longevity of side effects ...
In effect there are many Zionists today who do not embrace the "Negation of the Diaspora" as any kind of absolute[citation ... the dominant position of the tribe of Judah as well as nationalistic policies of Hasmoneans to refer to residents of Hasmonean ... "The Origin of Eastern European Jews Revealed by Autosomal, Sex Chromosomal and mtDNA Polymorphisms". Biol Direct. 5 (57): 57. ... The populations of Sephardi and Mizrahi Jewish communities "showed no evidence for a narrow founder effect."[92] Subsequent ...
However, this effect is not a direct result of PrP's absence, and rather arises from increased Doppel gene expression.[28] ... The human PRNP gene is located on the short (p) arm of chromosome 20 between the end (terminus) of the arm and position 12, ... Liao YC, Lebo RV, Clawson GA, Smuckler EA (July 1986). "Human prion protein cDNA: molecular cloning, chromosomal mapping, and ... This effect can be positive or negative and is due to changes in neuronal excitability and synaptic transmission in the ...
... position effect, DNA methylation reprogramming, transvection, maternal effects, the progress of carcinogenesis, many effects of ... Chromosomal regions can adopt stable and heritable alternative states resulting in bistable gene expression without changes to ... Nucleosome positioning[edit]. Eukaryotic genomes have numerous nucleosomes. Nucleosome position is not random, and determine ... acetylation at one position is likely to function differently from acetylation at another position. Also, multiple ...
Main articles: Human Y-chromosome DNA haplogroup and Y-chromosomal Adam. In human genetic genealogy (the application of ... Over time, genes that were beneficial for males and harmful to (or had no effect on) females either developed on the Y ... Centromere position. Acrocentric[3]. (10.4 Mbp[4]). Complete gene lists. CCDS. Gene list. ... Arakawa Y, Nishida-Umehara C, Matsuda Y, Sutou S, Suzuki H (2002). "X-chromosomal localization of mammalian Y-linked genes in ...
Linkage analysis and chromosomal rearrangement revealed the cause of SCS to be mutations in the TWIST gene (twist transcription ... Unevenly positioned eyes that may be crossed (strabismus) or wide-set (hypertelorism) Vision problems due to abnormal facial ... scientists at Johns Hopkins Children's Center began studying the TWIST gene because its effects on mice. The TWIST gene in mice ... Common methods include PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA). ...
Often these individuals are promoted to supervisory positions.. College (4 yrs), may have higher degree (MS, 2+ years). ... Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, ... Marchini J, Cardon LR, Phillips MS, Donnelly P (2004). "The effects of human population structure on large genetic association ... Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders ...
The Bohr effect favors the T state rather than the R state. (shifts the O2-saturation curve to the right). Conversely, when the ... A sixth position can reversibly bind oxygen by a coordinate covalent bond,[39] completing the octahedral group of six ligands. ... Chromosomal. locus Hb-α1. HBA1. Chr. 16 p13.3 Hb-α2. HBA2. Chr. 16 p13.3 ... Chen H, Ikeda-Saito M, Shaik S (2008). "Nature of the Fe-O2 bonding in oxy-myoglobin: effect of the protein". Journal of the ...
Health effects[edit]. Folate is necessary for the production and maintenance of new cells, for DNA synthesis and RNA synthesis ... Keshava C, Keshava N, Whong WZ, Nath J, Ong TM (1998). "Inhibition of methotrexate-induced chromosomal damage by folinic acid ... Thus, hydride is transferred from NADPH to the C6 position of the pteridine ring.[76] ... No common side effects are known.[4] Concerns exist that large amounts of folic acid might hide vitamin B12 deficiency. Folic ...
A randomly evolving DNA sequence contains mutations with no effect on the fitness and survival of an organism. The randomly ... Notice the four polymorphic sites (positions where someone differs from you, at 3, 7, 13 and 19 above). Now compare each pair ... Finally, genome wide scans of Tajima's D in sliding windows along a chromosomal segment are often performed. With this approach ... 1 2 Position 12345 67890 12345 67890 Person Y 00000 00000 00000 00000 Person A 00100 00000 00100 00010 Person B 00000 00000 ...
In late prometaphase, kinetochore microtubules begin to search for and attach to chromosomal kinetochores.[38] A kinetochore is ... This band marks the position where the cell will eventually divide. The cells of higher plants (such as the flowering plants) ... Santaguida, Stefano; Amon, Angelika (2015-08-01). "Short- and long-term effects of chromosome mis-segregation and aneuploidy". ... Mitosis "function" or significance relies on the maintenance of the chromosomal set; each cell formed receives chromosomes that ...
However, chromosomal polymorphism might lead to varying chromosome counts. For instance, in a study there were three northern ... illegal trade would care much about the effect it would have on buyers.[85] Additionally, rhino horn is increasingly purchased ... protective skin formed from layers of collagen positioned in a lattice structure. They generally eat leafy material, although ... Houck, ML; Ryder, OA; Váhala, J; Kock, RA; Oosterhuis, JE (January-February 1994). "Diploid chromosome number and chromosomal ...
"Eye Position and Animal Agility Study Published". The Horse. March 7, 2010. Retrieved 2010-03-11.. Press Release, citing ... although foals can be weaned at four months with no adverse physical effects.[14] ... "Horse Domestication and Conservation Genetics of Przewalski's Horse Inferred from Sex Chromosomal and Autosomal Sequences". ... meaning that their eyes are positioned on the sides of their heads.[70] This means that horses have a range of vision of more ...
A marked skill in completing jigsaw puzzles has been noted,[16][17] but this may be an effect of increased practice.[18] ... if a parental chromosomal translocation is present. Prenatal testing is possible for any of the known genetic mechanisms. ... Frequent abnormal fetal position. *Occasional polyhydramnios (excessive amniotic fluid). *Often breech or caesarean births ... "Effect of growth hormone on height, weight, and body composition in Prader-Willi syndrome". Arch. Dis. Child. 78 (5): 474-6. ...
Adverse effectsEdit. Melatonin appears to cause very few side effects as tested in the short term, up to three months, at low ... Positions on the benefits of melatonin for insomnia are mixed.[6] An AHRQ review from 2015 stated that evidence of benefit in ... Sumi-Ichinose C, Ichinose H, Takahashi E, Hori T, Nagatsu T (1992). "Molecular cloning of genomic DNA and chromosomal ... Side effects from supplements are minimal at low doses for short durations.[3][7] Side effects may include sleepiness, ...
Chromosomal tracers of evolution. Science 168, 1414-1418. *↑ Carson H.L. 1983. Chromosomal sequences and interisland ... In selfing[127] populations, individuals are largely homozygous and recombination has no effect".[124]. In the main experiment ... For instance, the Roman Catholic Church now has the following position on evolution: Pope Pius XII said in his encyclical ... Evolution 101:Sampling error and evolution and Effects of genetic drift from the Understanding evolution webpages of the ...
Joanne, Cacciatore, (2007-01-01). A phenomenological exploration of stillbirth and the effects of ritualization on maternal ... Prolapsed umbilical cord - Prolapse of the umbilical cord happens when the fetus is not in a correct position in the pelvis. ... chromosomal aberrations. *growth restriction. *intrahepatic cholestasis of pregnancy. *maternal diabetes. *maternal consumption ... These are sporadic if constriction is due to a change in the fetus' or mother's position, and may become worse or more frequent ...
The effects of DDT's use exemplifies how some insecticides can threaten wildlife beyond intended populations of pest insects.[ ... a position not well-supported in the entomological community.[40] The Neuropterida are often lumped or split on the whims of ... chromosomal genetics, development, behavior and evolution. Because genetic systems are well conserved among eukaryotes, ... Allomones benefit their producer by the effect they have upon the receiver. Kairomones benefit their receiver instead of their ...
interventions have lasting effects on the development of identity, fertility, sexual functioning and the parent-child ... from an abdominal or inguinal position to the scrotum. If the inguinal canal is open it must be closed to prevent hernia. ... "congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical."[54] The term has been ... There is no evidence regarding the effect of surgically treated or non-treated DSDs during childhood for the individual, the ...
... non-shared environmental effects are often found to out-weigh shared environmental effects. That is, environmental effects that ... A position not actually taken by the author, but apparently it was feared that "lay readers" would still interpret the book in ... children should be assigned to their chromosomal (i.e., genetic) sex regardless of anatomical variations and differences-with ... Sex-specific effects of genetic and environmental factors". Personality and Individual Differences. 32 (2): 211-223. doi: ...
The human CysLTR2 gene maps to the long arm of chromosome 13 at position 13q14, a chromosomal region that has long been linked ... decreased responsiveness to LTD4 suggesting that this hypo-responsiveness underlies its asthma transmission-protecting effect.[ ... 18][19] A -1220A,C (i.e. nucleotide adenine substituted for cytosine at position 1220 upstream from the transcription start ... amino acid methionine changed for valine at the 201 position of CysLTR2 protein) has been negatively associated in Transmission ...
Two molecules of ATP are positioned at the interface of the dimer, sandwiched between the Walker A motif of one subunit and the ... Chromosomal translocations have been found to cause the ABCG2 amplification or rearrangement found in resistant cell lines. The ... The latter scenario can lead to drug-drug interactions, sometimes resulting in altered effects of the drugs. There are a number ... The noticeable pattern is that the TM2 helix is positioned through the center of the subunit where it is surrounded in close ...
Mutation in a heterochromatin-specific chromosomal protein is associated with suppression of position-effect variegation in ... Mutation in a heterochromatin-specific chromosomal protein is associated with suppression of position-effect variegation in ... Mutation in a heterochromatin-specific chromosomal protein is associated with suppression of position-effect variegation in ... Mutation in a heterochromatin-specific chromosomal protein is associated with suppression of position-effect variegation in ...
A position-effect assay for boundaries of higher order chromosomal domains.Cell 64 1991 941 950 ... The su(Hw) protein insulates expression of the Drosophila melanogaster white gene from chromosomal position-effects.EMBO J. 12 ... Human Matrix Attachment Regions Insulate Transgene Expression from Chromosomal Position Effects in Drosophila melanogaster. ... Human Matrix Attachment Regions Insulate Transgene Expression from Chromosomal Position Effects in Drosophila melanogaster ...
There are different mechanisms through which chromosomal position effect. January 27, 2019 admin 0 Comment ... There are different mechanisms through which chromosomal position effect (CPE) can result in developing human abnormalities: ... A) Burkitts lymphoma t(8;14)(q24;q32) can be developed due to chromosomal translocations juxtaposing the c-myc gene on ... Pathogenesis associated with CPE can be found in various cancers, or constitutional pathologies, in which chromosomal ...
Chromatin insulators and position effects. p. 381. Introduction. p. 381. Chromosomal position effects. p. 382. ... Transcriptional hotspot targeting, chromosomal locus amplification and episomal expression strategies. p. 458. ...
The x axis is the chromosomal position (cM). Red (black) lines include (exclude) OPN SNPs in the map. Green lines fit OPN3907 ... and polygenic effects. DGAT1 genotypes were included in the model as a fixed effect. loki treats the number of QTL in the model ... The x axis is the chromosomal position (cM). The blue line indicates LK, and remaining lines are combined LK/LD analyses. Red ( ... is the vector of random haplotype effects (22). The remaining effects are as defined for loki. At most, three row elements of Z ...
Variegated phenotypes often result from chromosomal rearrangements that place euchromatic genes next to heterochromatin. In ... Variegated phenotypes often result from chromosomal rearrangements that place euchromatic genes next to heterochromatin. In ... Position effect variegation and chromatin proteins Bioessays. 1992 Sep;14(9):605-12. doi: 10.1002/bies.950140907. ... In position-effect variegation (PEV) therefore, gene inactivation results from a change in chromatin structure. PEV has been ...
... corneal power and effective lens position (ELP) on the distance between the ant... ... Chromosomal Position Effects. The effects on gene expression that depend on the location of a gene with respect to its ... Stable position effects are sequence dependent. Variegated position effects depend on whether the gene is located in or ... An interferon beta-1 subtype that has a methionine at position 1, a cysteine at position 17, and is glycosylated at position 80 ...
Human telomeric position effect is determined by chromosomal context and telomeric chromatin integrity. EMBO Rep. 3, 1055-1061 ... Baur, J.A., Zou, Y., Shay, J.W. & Wright, W.E. Telomere position effect in human cells. Science 292, 2075-2077 (2001). ... Scoring of chromosomal abnormalities by Q-FISH.. We scored the indicated numbers of metaphases from each ES cell or MEF culture ... Mammalian Ku86 mediates chromosomal fusions and apoptosis caused by critically short telomeres. EMBO J. 21, 2207-2219 (2002). ...
1996 Somatic reversion of chromosomal position effects in Drosophila melanogaster. Genetics 144: 657-670. ... While there are several possible explanations for this, such as imprinting or position effects, the most likely explanation is ... FISH analysis of chromosomal rearrangements: To characterize some of the chromosomal rearrangements in more detail, we ... Generation of chromosomal deficiencies, inversions, and duplications: The strategy to generate the chromosomal rearrangements ...
1996 Somatic reversion of chromosomal position effects in Drosophila melanogaster. Genetics 144: 657-670. ... 2002 Targeted chromosomal cleavage and mutagenesis in Drosophila using zinc-finger nucleases. Genetics 161: 1169-1175. ... 2014 Analysis of off-target effects of CRISPR/Cas-derived RNA-guided endonucleases and nickases. Genome Res. 24: 132-141. ... This effect was most pronounced for the R3 guide, which was moderately efficient in the injection paradigm with 8% of fertile ...
In these functions, x corresponds to the relative position of the gene in the chromosome. Under a simple model of background ... Chromosomal Effects of Rapid Gene Evolution in Drosophila melanogaster. By Dmitry Nurminsky, Daniel De Aguiar, Carlos D. ... Chromosomal Effects of Rapid Gene Evolution in Drosophila melanogaster. By Dmitry Nurminsky, Daniel De Aguiar, Carlos D. ... Chromosomal Effects of Rapid Gene Evolution in Drosophila melanogaster Message Subject. (Your Name) has forwarded a page to you ...
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.. Zepeda-Mendoza CJ, Ibn- ...
Variegated phenotypes often result from chromosomal rearrangements that place euchromatic genes next to heterochromatin. In ... Position effect variegation and chromatin proteins.. Reuter G1, Spierer P.. Author information. 1. Department of Genetics, ... In position-effect variegation (PEV) therefore, gene inactivation results from a change in chromatin structure. PEV has been ...
Effect of chromosomal position on amplification of transfected genes in animal cells *Geoffrey M. Wahl ... Rights & permissionsfor article Effect of chromosomal position on amplification of transfected genes in animal cells . Opens in ...
... the very tip of our DNA has been shown to impact transcription by position effect. TPE and a long-reach counterpart, TPE-OLD, ... Human telomeric position effect is determined by chromosomal context and telomeric chromatin integrity. EMBO Rep. 2002, 3, 1055 ... TPE (Telomere Position Effect), a long-reach counterpart, TPE-OLD (Telomere Position Effect Over Long Distances) and TERRA ( ... Kulkarni, A.; Zschenker, O.; Reynolds, G.; Miller, D.; Murnane, J.P. Effect of telomere proximity on telomere position effect, ...
Telomere position effect and silencing of transgenes near telomeres in the mouse. Mol Cell Biol 2006;26:1865-78. ... Rad51 suppresses gross chromosomal rearrangement at centromere in Schizosaccharomyces pombe . EMBO J 2008;27:3036-46. ... To investigate the effects of loss of function of the Bre1a/Bre1b complex in mouse cells, we created lentivirus-based short ... Seminomas show chromosomal changes similar to those found in CIS and therefore are considered a default pathway from the CIS ...
1992) Position effect variegation and chromosomal proteins. BioEssays 14, 605-612. OpenUrlCrossRefPubMedWeb of Science ... 1994) The protein encoded by the Drosophila position effect variegation suppressor gene Su(var)3-9 combines domains of ... 1995) Genetic interactions and dosage effects of Polycomb group genes of Drosophila. Mol. Gen. Genet 246, 291-300. ... 1994) The trithorax gene encodes a chromosomal protein and directly regulates the region-specific homeotic gene fork head. ...
Wahl, G.M., de Saint Vincent, B.R. & DeRose, M.L. (1984). Effect of chromosomal position on amplification of transfected genes ... Devlen, R.H., Yesaki, T.Y., Donaldson, E.M. and Hew, C.L. (1995). Transmission and phenotypic effects of an antifreeze GH gene ... Hilbeck, A., Baumgartner, M., Fried, P.M. and Bigler, F. (1997). Effects of transgenic Bacillus thuringiensis-corn-fed prey on ... So, the same gene will have very different effects from individual to individual, because other genes are different. There is ...
Their transcriptional regulation is thought to be under chromosomal position-effect controls. Many of these genes encode ... However, the mechanisms for controlling the expression of DLX gene by position effects, tissue-specific expression and the ... Nearly all studies have hypothesized a position-effect control to explain this paradox such that the genomic rearrangements ... have been explained by the position-effect dysregulation hypothesis, but the q11 breakpoint of the t(7q11.21;9p12) ...
Wahl, G.M., de Saint Vincent, B.R. and DeRose, M.L. (1984). Effect of chromosomal position on amplification of transfected ... Transgressing species integrity results in unpredictable physiological effects. Transgenic vectors themselves can cause severe ... The insertion of foreign genes into the host genome has long been known to have many harmful and fatal effects including cancer ... 1. Toxic or allergenic effects due to transgene products or products from interactions with host genes. 2. Spread of transgenes ...
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional ... Elgin SC, Reuter G. Position-effect variegation, heterochromatin formation, and gene silencing in drosophila. Cold Spring Harb ... Ventricular septal defects Chromosomal microarray analysis Chromosomal abnormality Prenatal diagnosis Abbreviations. CHD. ... Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal ...
Genetic-dosage-and-position-effect-of-small-supernumerary-marker-chromosome-(sSMC)-in-human-sperm-srep17408-s2.ogv 8.4 s, 240 ... Genetic-dosage-and-position-effect-of-small-supernumerary-marker-chromosome-(sSMC)-in-human-sperm-srep17408-s3.ogv 33 s, 320 × ... Chromosomal abnormalities, Chromosomal abnormality, โรคโครโมโซมผิดปกติ, Chromosome abnormalities (th); kromosommutasjon, ... chromosomal mutation, chromosomal abnormality, chromosome aberration, chromosome aberrations (en); kromosoma
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.. Zepeda-Mendoza CJ, Ibn- ... Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo- ...
Science has little understanding of position effect yet. An important clue in how speciation really takes place is the ... For example, God only knows how many chromosomal rearrangements there have been in the two lineages. ... So, you would have to posit more layer of error correction for our "special" sequences. These layers take up energy, but also ... How exactly does this speak to my presentation?" Indeed, you would need to posit that this also occurs in eukaryotes (with no ...
Single-locus modification of position-effect variegation in Drosophila melanogaster. I. White variegation. Genetics. 1967;57: ... The position of the BAC was mapped to chromosome 1 by aligning the 552 bp cloned human DNA sequence against genome database. ... Role of SV40 Integration Site at Chromosomal Interval 1q21.1 in Immortalized CRL2504 Cells. Jinglan Liu,1 Gurpreet Kaur,1 ... We demonstrate here that the disruption of human chromosomal interval at 1q21.1, by SV40 integration, can be an essential step ...
Insulation of transgenes from chromosomal position effects. Transgenic Animals: Generation and Use (ed. L.M. Houdebine), pp. ... Thus, it might be possible to eliminate position effects by incorporating insulators, which are portions of DNA which act as ... This can be due to pleiotropic effects of the gene itself, or may result from epistatic effects -- interactions with endogenous ... a position effect) can also affect gene expression (49), especially if it is integrated close to endogenous DNA control regions ...
... euchromatic genes brought into juxtaposition with pericentric heterochromatin show position-effect variegation (PEV), a ... while maintaining a common association with the chromosomal protein HP1. ... Characterization of sequences associated with position-effect variegation at pericentric sites in Drosophila heterochromatin ... In a variety of organisms, euchromatic genes brought into juxtaposition with pericentric heterochromatin show position-effect ...
Modulation of gene expression through chromosomal positioning in Escherichia coli. Microbiology 143:2071-2078. doi:10.1099/ ... Chromosome position effects on gene expression in Escherichia coli K-12. Nucleic Acids Res 42:11383-11392. doi:10.1093/nar/ ... The tuf genes, present in two separate chromosomal copies, would be obvious candidates, but our data indicate that chromosomal ... via gene dosage effects) are directly linked to the growth speed of the bacteria. Gene dosage effects could, therefore, be seen ...
PEV (Position Effect Variegation) is the result of chromosomal rearrangement of the place of euchromatic gene. The euchromatic ... 2004). "Drosophila atm/telomere fusion is required for telomeric localization of HP1 and telomere position effect." Genes & ... Off target effects could drive cell to death by cellular toxicity [201]. H3K9 and H3K7 of mammalian cells are the targets of ... I Factor repression is maternal and have long term effect [80]. Repression of the factor carried out by the help of RNAi. One ...
Somatic reversion of chromosomal position effects in Drosophila melanogaster Ahmad, K.; Golic, K. G. ... A repeated chromosomal DNA sequence is amplified as a circular extrachromosomal molecule in rice ... What is surprising is that the DNA is not degraded, but remains in the cells as an extra-chromosomal circular molecule. http:// ...
  • Variegated phenotypes often result from chromosomal rearrangements that place euchromatic genes next to heterochromatin. (nih.gov)
  • The effects on gene expression that depend on the location of a gene with respect to its neighboring genes and region of chromosome. (bioportfolio.com)
  • Some chromosomal rearrangements, such as a simple translocation or an inversion, may affect just a few genes. (genetics.org)
  • 1993 ) trithorax regulates multiple homeotic genes in the bithorax and Antennapedia complexes and exerts different tissue specific, parasegment specific and promoter specific effects on each. (biologists.org)
  • 1995 ) Genetic interactions and dosage effects of Polycomb group genes of Drosophila . (biologists.org)
  • However, despite decades of extensive research on development in all sorts of organisms, it is not understood precisely how developmental control genes are regulated, expressed or silenced at the correct position and with their exact timing in the course of development, nor how the development of different cells types and tissues is coordinated during embryogenesis. (royalsocietypublishing.org)
  • In a variety of organisms, euchromatic genes brought into juxtaposition with pericentric heterochromatin show position-effect variegation (PEV), a silencing of gene expression in a subset of the cells in which the gene is normally expressed. (nih.gov)
  • Identifying the genes that confer these conditionally beneficial effects to particular chromosomal duplications can improve our understanding of the genetic and molecular mechanisms that enable certain aneuploidies to persist in cell populations and contribute to disease and evolution. (g3journal.org)
  • Our findings add to a growing body of literature that shows the conditionally beneficial effects of chromosomal duplication are typically mediated by a small number of genes that enhance tolerance to specific stresses when their copy numbers are increased. (g3journal.org)
  • An important question regarding such conditionally beneficial aneuploidies is, do their effects tend to arise due to changes in the copy numbers of one or multiple genes on the aneuploid chromosome(s)? (g3journal.org)
  • The expression of constitutively expressed genes can vary up to fivefold based on chromosomal location, but it is not clear what level of variation would occur in naturally regulated operons. (asm.org)
  • Several studies have quantified the gene dosage effect experimentally and shown that the levels of expression of genes vary up to fivefold depending on their chromosomal location ( 5 , 7 , 8 ). (asm.org)
  • The proposed procedure for the reduction of confounding and suppression effects and the semi-supervised clustering method are essential steps to identify genes associated with the chemotherapeutic response. (biomedcentral.com)
  • Prime objective of the present study is to determine the biological effect of reported alleles in INPP5E genes. (thefreelibrary.com)
  • On the basis of these findings, it is hypothesized that ectopic and excessive expression of the Om genes in the eye imaginal discs is induced by an eye imaginal disc-specific enhancer present in the tom LTR, the effect of which may be subject to chromosomal position effects. (springer.com)
  • protein-coding genes were grouped by chromosome, sorted by position, and paired with the 100 nearest neighbors within the same chromosome. (g3journal.org)
  • The position of genes within chromosomes is known to modulate their rate of transcription ( 48 ), but relatively few studies have systematically compared regulation at multiple chromosomal sites. (asm.org)
  • We have previously shown that several susceptibility alleles of low-to-moderate-effects in NPSR1 may modify the asthma risk and show epistasis depending on the carrier status for variants in genes belonging to common biological pathways [ 17 ]. (plos.org)
  • To analyze the effects of background genes, backcross offspring were examined from the interspecific cross of (MRL-lpr x CAST/Ei)F_1 x MRL-lpr. (nii.ac.jp)
  • The profound effects of background genes on the extent of nephritis, lymphadenopathy and anti-DNA antibody were demonstrated. (nii.ac.jp)
  • Of major note, this study suggested the identification of chromosomal positions for genes that modify nephritis. (nii.ac.jp)
  • The top and bottom diagrams depict the chromosomal organization of globin and nonglobin genes. (els.net)
  • Major effect genes or loose confederations? (biomedcentral.com)
  • The rapid development of genetically modulated resistance to insecticides is postulated to develop in two distinct ways: By selection for single major effect genes or by selection for loose confederations in which several factors, not normally associated with each other, inadvertently combine their effects to produce resistance phenotypes. (biomedcentral.com)
  • Heterochromatin is a form of tightly-coiled chromosomal material that carries genes, and is considered to be largely inert genetically. (wisegeek.com)
  • Background Mapping the breakpoints in de novo balanced chromosomal translocations (BCT) in symptomatic individuals provides a unique opportunity to identify in an unbiased way the likely causative genetic defect and thus find novel human disease candidate genes. (bmj.com)
  • The potential of heterochromatin to silence nearby genes, a phenomenon known as position effect variegation (PEV), has been both puzzling and attractive for scientists since its discovery (for review, see Eissenberg and Elgin, 2000 ). (plantphysiol.org)
  • complementary g's two independent pairs of nonallelic genes, neither of which will produce its effect in the absence of the other. (thefreedictionary.com)
  • major gene a gene whose effect on the phenotype is always evident, regardless of how this effect is modified by other genes. (thefreedictionary.com)
  • This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to reveal a potential correlation between submicroscopic chromosomal aberrations and VSDs. (springer.com)
  • Mutations of the DLX5 ( distal-less ) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous chromosomal aberrations of the region without mutating the DLX5 gene. (royalsocietypublishing.org)
  • An increased incidence of SA and chromosomal aberrations has been reported in smokers [ 9 ]. (hindawi.com)
  • A) Burkitt's lymphoma t(8;14)(q24;q32) can be developed due to chromosomal translocations juxtaposing the c-myc gene on chromosome 8 to one of the immunoglobulin loci. (cainscrossing.org)
  • Chromosome engineering in mice enables the construction of models of human chromosomal diseases and provides key reagents for genetic studies. (genetics.org)
  • Chromosome IV duplication is the most frequent mutation, as well as the only change in chromosomal copy number seen in the screen. (g3journal.org)
  • Using a genetic mapping strategy that involves systematically deleting segments of a duplicated chromosome, we show that the chromosome IV's duplication effect is largely due to the generation of a second copy of the stress-inducible cytoplasmic thioredoxin peroxidase TSA2 . (g3journal.org)
  • We tested the magnitude of the chromosome location effect using EF-Tu ( tufA , tufB ), an abundant protein whose cellular level correlates with, and limits, the maximum growth rate. (asm.org)
  • This locational bias is thought to reflect a selection for maximum growth rate that can be achieved by increasing relative gene copy number and, therefore, expression, due to gene dosage effects associated with bacteria having overlapping cycles of chromosome replication under fast growth conditions ( 3 - 6 ). (asm.org)
  • Suppressors of position effect variegation alter chromosome and chromatin structure. (ubc.ca)
  • A susceptibility locus with significant linkage to vasculitis of main branches of the aorta was mapped on chromosome 4 at D4Mit213 (map position 13.3cM) selectively in males, while vasculitis of medium-sized arteries in the lower limbs was mapped to different chromosomes: at D8Mit31 on chromosome 8 (map position 33.0) selectively in females and at D5Mit36 on chromosome 5 (map position 65.0). (wiley.com)
  • We examined the effect of cell cycle progression on various levels of chromosome organization in Drosophila . (rupress.org)
  • Such interphase chromosome movements suggest a possible mechanism that links gene regulation via nuclear positioning to the cell cycle: delayed maturation of heterochromatin during G1-phase delays establishment of a silent chromatin state. (rupress.org)
  • Chromosomal territories have also been demonstrated in Drosophila early embryo and polytene nuclei, where most of the genome is contained on only five large chromosome arms. (rupress.org)
  • When study lead author Neil Ganem, PhD, of Dana-Farber used newly developed microscope equipment to watch living cancer cells for a week or more, he found that not only were such abnormal divisions quite rare, but the resulting daughter cells were so discombobulated by their chromosomal quirks, they generally survived for only a few days "" far too briefly to deliver abnormal chromosome content to a tumor. (redorbit.com)
  • The centrosomes' role is to construct the mitotic spindle, the axis along which the chromosome pairs position themselves as division proceeds. (redorbit.com)
  • It has also been known to be a highly mutable form of DNA prone to cancerous effects, but, in this case, centromeric heterochromatin is a stable and protective feature of the chromosome. (wisegeek.com)
  • Insertional inactivation of the yyaA gene had no apparent effect on chromosome organization and partitioning during vegetative growth or sporulation. (asm.org)
  • The role of Soj in chromosome partitioning is less clear, as a null mutation has only a minor effect on segregation ( 21 ). (asm.org)
  • Unexpectedly, a yyaA null mutation had no obvious effect on chromosome segregation or nucleoid organization. (asm.org)
  • Chromosome loci that were positioned away from telomeres exhibited reduced motion in the presence of an actin polymerization inhibitor but were unaffected by the lack of Csm4. (biologists.org)
  • Overall, interphase chromosome dynamics are modulated by the additive effects of cytoskeletal actin through forces mediated by the nuclear envelope and nuclear actin, probably through the function of actin in chromatin-remodeling complexes. (biologists.org)
  • one of the biologic units of heredity, self-reproducing, and located at a definite position (locus) on a particular chromosome. (thefreedictionary.com)
  • We report here that a point mutation in the gene which encodes the heterochromatin-specific nonhistone chromosomal protein HP-1 in Drosophila melanogaster is associated with dominant suppression of position-effect variegation. (pnas.org)
  • Germ line transformation of white − Drosophila embryos with P -element vectors containing white expression cassettes results in flies with different eye color phenotypes due to position effects at the sites of transgene insertion. (asm.org)
  • These position effects can be cured by specific DNA elements, such as the Drosophila scs and scs′ elements, that have insulator activity in vivo. (asm.org)
  • Two different human MARs, from the apolipoprotein B and α1-antitrypsin loci, insulated white transgene expression from position effects in Drosophila melanogaster . (asm.org)
  • 1993 ) A 5′ element of the chicken beta-globin domain serves as an insulator in human erythroid cells and protects against position effect in Drosophila . (biologists.org)
  • Geyer PK, Corces VG (1992) DNA position-specific repression of transcription by a Drosophila zinc finger protein. (springer.com)
  • Hoover KK, Chien AJ, Corces VG (1993) Effects of transposable elements on the expression of the forked gene of Drosophila melanogaster . (springer.com)
  • This suggests that heterochromatin-specific proteins play a central role in the gene suppression associated with heterochromatic position effects. (pnas.org)
  • He and his colleagues have shed light on a phenomenon called position-effect variegation, caused by inactivation of a gene positioned near densely packed chromosomal material called heterochromatin. (cshl.edu)
  • Where heterochromatin formation is present, it usually represses the transcription of genetic information in itself or nearby chromatin regions, and this effect on gene expression is known as position effect variegation. (wisegeek.com)
  • Pathogenesis associated with CPE can be found in various cancers, or constitutional pathologies, in which chromosomal rearrangements (translocations, deletions, or inversions) take place (1). (cainscrossing.org)
  • Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. (nih.gov)
  • UChicago accomplishments include landmark prostate cancer treatment in 1939, the identification of the first chromosomal abnormality in leukemia in 1972, the 1988 discovery of the molecular mechanism by which tamoxifen blocks the effects of estrogen, and the 2008 development of a new MRI procedure that can detect early breast cancer. (wikipedia.org)
  • ONE of the most common causes of human developmental disorders and fetal loss are chromosomal abnormalities such as inversions, duplications, deficiencies, translocations, and nondisjunction. (genetics.org)
  • According to Pellman, chromosomal instability, it turns out, "is actually a side effect of the cells' ability to cluster their excess centrosomes. (redorbit.com)
  • Genotoxic effects from RF exposure, including studies of non-thermal levels of exposure, consistently and specifically show chromosomal instability, altered gene expression, gene mutations, DNA fragmentation and DNA structural breaks. (aaemonline.org)
  • There are different mechanisms through which chromosomal position effect (CPE) can result in developing human abnormalities: juxtaposition of one gene with the enhancer of another gene, separation of the transcription unit from an essential distant regulatory element, competition for the same regulatory element, or classical PEV where a gene is transferred to a new chromatin environment. (cainscrossing.org)
  • Karyotype analysis identified 16 chromosomal abnormalities. (springer.com)
  • We found that transcriptional regulation buffered the effects of translocation and that even under conditions where growth rate was reduced, genetic changes that increased the expression of tufB were easily and rapidly selected. (asm.org)
  • Position-effect Variegation: An Assay for Non-histone Chromosomal Proteins and Chromatin Assembly and Modifying Factors. (ubc.ca)
  • This is an attractive hypothesis because it equates the structural boundaries of a chromatin loop, the flanking MAR elements, with the functional boundaries of the domain, the putative chromosomal insulator elements. (asm.org)
  • There are numerous forms of genetic variation in the human genome, ranging from large chromosomal anomalies to single nucleotide variation. (thefreelibrary.com)
  • Higher frequency of SA was seen in test mothers using oral contraceptives than in control mothers and in Down syndrome, XXY Klinefelter, and XO Turner syndrome, suggesting that drug intake and chromosomal anomalies predispose to satellite associations [ 7 , 8 ]. (hindawi.com)
  • In position-effect variegation (PEV) therefore, gene inactivation results from a change in chromatin structure. (nih.gov)
  • Epigenetics is the study of non-DNA-mediated hereditary changes in cells, a rapidly growing field I find personally satisfying because it is finding answers to many of the riddles and mysteries in biology which entranced me as a college student many years ago: "cytoplasmic inheritance,"position-effect variegation, chromosomal inactivation, and so on. (oberlin.edu)
  • Evolutionary theory predicts that the chromosomal region would show a reduced level of genetic variation and an excess of rare alleles. (sciencemag.org)
  • More importantly, chromosomal deficiencies are commonly exploited in genetic screens because a small portion of the genome is functionally hemizygous. (genetics.org)
  • Although chromosomal duplications are often deleterious, in some cases they enhance cells' abilities to tolerate specific genetic or environmental challenges. (g3journal.org)
  • The final result of the ura-blaster genetic disruption method is an intact copy of the C. albicans URA3 gene located within the ura-blaster cassette at the position in the genome corresponding to one allele of the target gene. (asm.org)
  • The effect of SNP is exclusively dependent upon its genetic position. (thefreelibrary.com)
  • Identifying the patients of their genetic damage through cytogenetic studies and treating them with Chyawanprash Awaleha, an antioxidant, seemed to be a promising strategy and an attractive alternative that reduces toxic effects of tobacco. (hindawi.com)
  • We sought to examine the effects of different combinations of these NPS and NPSR1 variants on downstream signaling and genetic risk of asthma. (plos.org)
  • Analysis of genetic regulatory effects on DNA methylation at known pSS risk loci was performed. (bmj.com)
  • The third method of repression doesn't apply to human genetic coding and instead is a limiting factor on gene expression in some insect species that have been studied for the effect, such as fruit flies. (wisegeek.com)
  • We are now in a position to ask how early childhood environments work together with genetic variation and epigenetic regulation to generate socially partitioned developmental trajectories with impact on health across the life course. (plos.org)
  • The nature of these effects may be epigenetic occurring in some cells, but not others, of the same genetic background. (plantphysiol.org)
  • Difficulties arise from genetic heterogeneity, insufficient sample sizes, and small effects of each disease-regulating gene. (jimmunol.org)
  • Genetic outcrosses by transformation with chromosomal DNA and introduction of plasmids carrying either the wild-type or the mutated grlB gene indicated that this mutation causes both increased MICs of fluoroquinolones and decreased MICs of coumarins and that the mutant grlB allele is codominant for both phenotypes with multicopy alleles. (asm.org)
  • 3 Genetic damage, reproductive defects, cancer, neurological degeneration and nervous system dysfunction, immune system dysfunction, cognitive effects, protein and peptide damage, kidney damage, and developmental effects have all been reported in the peer-reviewed scientific literature. (aaemonline.org)
  • 1994 ) The trithorax gene encodes a chromosomal protein and directly regulates the region-specific homeotic gene fork head . (biologists.org)
  • We propose a new model of protein evolution that is reminiscent of a constrained 'random walk' through fitness space, which is based on the fitness consequences and distribution of mutational effects on function, stability, aggregation and degradation. (uncommondescent.com)
  • There are currently no models that reconcile the constant rate of protein evolution with the biochemical reality that missense mutations have large, context-dependent effects and that few, if any, are selectively neutral. (uncommondescent.com)
  • The results indicate that a pericentric transgene showing PEV can be associated with different types of DNA sequences, while maintaining a common association with the chromosomal protein HP1. (nih.gov)
  • To identify chromosomal regulators of HIV transcription, we infected Jurkat T cells with an HIV-based vector transducing green fluorescent protein (GFP) and separated cells into populations containing well-expressed (GFP-positive) or poorly expressed (GFP-negative) proviruses. (umd.edu)
  • The INPP5E gene, which encodes inositol polyphosphate-5-phosphatase, is a 644 amino acids long protein and is involved in removing phosphate from inositol phosphates or inositol phospholipids from its 5' position (Kisseleva et al. (thefreelibrary.com)
  • These include the lysine residue at position 90 of ribosomal protein L22, the 23S rRNA segment between nucleotides 749 to 752, and 23S rRNA nucleotide U2609 ( 4 ). (asm.org)
  • While many of these studies have shown that transgenes flanked by MARs are more highly expressed than similar transgenes without MAR elements, conflicting views have been expressed as to whether MAR elements can render transgene expression position-independent. (asm.org)
  • The majority of transgenes succumb to transcriptional silencing by their chromosomal environment when they are randomly integrated into the genome, a phenomenon known as chromosomal position effect (CPE). (gla.ac.uk)
  • Transgenes as probes for active chromosomal domains in mouse devel-opment // Nature. (nsc.ru)
  • Systemic vasculitis in MRL/lpr mice is genetically controlled with cumulative effects of multiple gene loci, each of which has tissue specificity. (wiley.com)
  • Eleven QTLs were clustered in five chromosomal regions, indicating that common Rf loci restored different CMS systems, and the favorable O . rufipogon alleles could be used to develop restorer lines for various CMS types by marker-assisted selection. (hindawi.com)
  • A quinolone resistance locus referred to as flqA was localized to the A fragment of chromosomal DNA of first-step ciprofloxacin- and ofloxacin-selected resistant mutants digested with Sma I between the thr and trp loci ( 37 ). (asm.org)
  • In many cases, somatic cells that suffer chromosomal damage that is deleterious to a cell may simply cause that cell to be lost from the organism and be replaced by cells from the same lineage with intact genomes. (genetics.org)
  • Vertebrate genomes are organised into a variety of nuclear environments and chromatin states that have profound effects on the regulation of gene transcription. (gla.ac.uk)
  • This assay can be scaled up to test tens of new putative barrier elements in the same chromosomal context in parallel. (gla.ac.uk)
  • These ribosomal residues are located in the ribosome peptide exit tunnel, near the putative position of W12 of TnaC-tRNA Pro ( 4 ) (Fig. 1 ). (asm.org)
  • Chromosomal changes that result in gene dosage differences (deletions, duplications, and nondisjunction) can be particularly severe. (genetics.org)
  • Alternatively, an insecticide resistance phenotype is likely to evolve under intense selection as a single major effect controlled by one or a very small number of mutant alleles or gene duplications. (biomedcentral.com)
  • Possible effects of endogenous cellular transcription were characterized by transcriptional profiling. (umd.edu)
  • These data provide a genome-wide picture of chromosomal features that repress transcription and suggest models for transcriptional latency in cells from HIV-infected patients. (umd.edu)
  • Here we have used human immunodeficiency virus (HIV) integration to identify negatively acting chromosomal features, an issue of interest both in understanding global control of transcription and in assessing HIV transcriptional latency in patients. (asm.org)
  • When specifically targeted to telomeres, TRF1 overexpression releases the so-called telomere position effect, suggesting a role for TRF1 in controlling telomere silencing ( 30 ). (asm.org)
  • It is also located at the telomeres, or ends of chromosomal segments, of deoxyribonucleic acid (DNA). (wisegeek.com)
  • The RGBarrier assay consists in a Flp-based RMCE reaction for the integration of an expression construct, carrying candidate DREs, in a pre-characterised chromosomal location. (gla.ac.uk)
  • Many of these sites were further defined by electrophoretic mobility shift assay (EMSA) and used to generate a position-weighted matrix (PWM) for EBNA1. (asm.org)
  • The narrow range of tolerance of deviations from optimum characteristics and the significant effects of mutations give rise to a substantial degree of epistasis for fitness. (uncommondescent.com)
  • Another important challenge to evolutionary theory, which emphasizes the independent and additive effects of mutations, arises from studies of compensatory evolution. (uncommondescent.com)
  • Here the deleterious effects of mutations are rapidly and effectively compensated by conditionally beneficial mutations. (uncommondescent.com)
  • These effects may not be uncovered by SNP arrays which are suitable for detection of common polymorphisms but cannot detect the effects of less frequent coding mutations and low frequency functional SNPs. (plos.org)
  • Combining the grlA (Phe-80) and grlB (Asp-470) mutations with this gyrA mutation also had differing effects. (asm.org)
  • Thoma F (1992) Nucleosome positioning. (els.net)
  • It contains many active substances with multiple effects and several (unknown) mechanisms of action. (druglibrary.org)
  • Consequently, many chromosomal alterations are incompatible with full-term fetal development. (genetics.org)
  • The findings indicate that alterations in topoisomerases may have pleiotropic effects on different classes of inhibitors as well as on inhibitors within the same class. (asm.org)
  • Thus, the variation in HIV-1 gene expression at different integration sites reports the activity of regulatory sequences at nearby chromosomal positions. (umd.edu)
  • DNAaseI hypersensitive sites that mark the positions of cis ‐regulatory elements such as promoters (P) or enhancers (E) are indicated as vertical arrows. (els.net)
  • 1995) Contrasting effects of alpha and beta globin regulatory elements on chromatin structure may be related to their different chromosomal environments. (els.net)
  • According to the FCC and other regulatory agencies, only thermal effects are relevant regarding health implications and consequently, exposure limits are based on thermal effects only. (aaemonline.org)
  • An important aspect of RNA interference is its role in protecting organisms from some deleterious effects of viruses [8] . (wikiversity.org)
  • But it may also have deleterious effects that could make tumor cells susceptible to therapeutic attack. (redorbit.com)
  • Beyond this mitotic clock role attributed to the need for telomere to be maintained over a critical length, the very tip of our DNA has been shown to impact transcription by position effect. (mdpi.com)
  • Despite rapid advances in the profiling of transcription factor binding, chromatin states and chromosomal looping interactions, progress towards functionally validating the many candidate barrier elements in vertebrates has been very slow. (gla.ac.uk)
  • Retroviral model systems provide a tractable means of studying the influence of chromosomal context on transcription. (asm.org)
  • Thus, the viral genome provides a homogeneous transcription template that can be analyzed at different chromosomal locations, allowing the influence of flanking chromosomal features to be assessed. (asm.org)
  • On the basis of our findings, we conclude that downregulation of renin synthesis caused by interleukin-1 occurs primarily at the level of transcription and that DNA sequence or sequences mediating that effect are positioned within 4.1 kilobases upstream of the renin gene. (ahajournals.org)
  • 3 Moreover, mice with both chromosomal copies of the IL-1β-converting enzyme gene inactivated were resistant to endotoxic shock. (ahajournals.org)
  • Publications] Ogasawara,J.: 'Lethal effect of the anti-Fas antibody in mice' Nature. (nii.ac.jp)
  • Grosveld F, Bloom van Assendelft G, Greaves DR and Kollias G (1987) Position‐independent, high‐level expression of the human β‐globin gene in transgenic mice. (els.net)
  • Adverse developmental effects due to non-thermal RF exposure have been shown with decreased litter size in mice from RF exposure well below safety standards. (aaemonline.org)
  • Understanding these mechanisms will be of paramount importance for the design of specific solutions for overcoming chromosomal silencing in specific transgenic applications. (gla.ac.uk)
  • As malaria vector control becomes increasingly reliant on successfully managing insecticide resistance, the characterisation of resistance mechanisms and their pleiotropic effects becomes increasingly important. (biomedcentral.com)
  • The sequences for these newly identified sites were used to generate a position-weighted matrix (PWM) for EBNA1's DNA-binding sites. (asm.org)
  • Using bromodeoxyuridine incorporation and DNA quantitation in combination with fluorescence in situ hybridization, we detected gross chromosomal movements in diploid interphase nuclei of larvae. (rupress.org)
  • Transgenic technology transgresses both species integrity and species boundaries, leading to unexpected, systemic effects on the physiology of the transgenic organisms produced as well as the balanced ecological relationships on which biodiversity depends. (sfsu.edu)
  • In the article, they do not apply biological embedding in an indiscriminate fashion, rather stating that "not only must experience have biological effects, but also these effects must, in turn, influence long-term human developmental outcomes and the expression of gradients in human development (336). (plos.org)
  • What is surprising is that the DNA is not degraded, but remains in the cells as an extra-chromosomal circular molecule. (deepdyve.com)
  • K5TRF1 cells also show increased end-to-end chromosomal fusions, multitelomeric signals, and increased telomere recombination, indicating an impact of TRF1 on telomere integrity, again similar to the case in K5TRF2 cells. (asm.org)
  • In present study, we investigated the effect of CSA on corticosterone-induced cell apoptosis and explored its possible signaling pathways in PC12 cells. (jove.com)
  • In transfected cells, the magnitude of NPSR1-induced activation of cAMP/PKA signal transduction pathways and downstream gene expression was dependent on the combination of the NPS and NPSR1 variants with NPS-Val(6)/NPSR1-Ile(107) resulting in strongest and NPS-Leu(6)/NPSR1-Asn(107) in weakest effects, respectively. (plos.org)
  • To determine direct effects of IL-1β on renin-expressing cells we used a clonal cell line, As4.1 (AmericanType Culture Collection [ATCC] No. CRL2193), of renal origin. (ahajournals.org)
  • Thus, As4.1 cells may represent a unique model of juxtaglomerular cells with which to study in greater detail the mechanism of IL-1β effects on renin expression during septicemia. (ahajournals.org)
  • In addition, the results from the present study will provide a basis for further studies of the effects of cytokines on renin synthesis in juxtaglomerular cells in vivo. (ahajournals.org)
  • Because microtubules maintain the positions of the chromosomes during mitosis, they appear to be densely pinched between the two dividing, daughter cells. (wikipedia.org)
  • Among them, satellite chromosomes in associations appear to be one of the most suitable tests to assess the toxic effects of carcinogens like tobacco on chromosomes. (hindawi.com)
  • The phenomena of SA, where satellite chromosomes assume a specific position with their satellites directed towards each other, were first observed in mitotic human chromosomes and were later also found in meiotic chromosomes [ 4 , 5 ]. (hindawi.com)
  • This effect is created when sticky ends of chromosomes remain connected to one another, even after mitosis. (wikipedia.org)
  • Insecticide resistance is a common occurrence and has been intensively studied in the major malaria vector Anopheles gambiae , providing a useful model for examining how insecticide resistance develops and what pleiotropic effects are likely to emerge as a consequence of resistance. (biomedcentral.com)
  • 2 However, many in vitro, in vivo and epidemiological studies demonstrate that significant harmful biological effects occur from non-thermal RF exposure and satisfy Hill's criteria of causality. (aaemonline.org)
  • To address these issues, herein we propose an analysis procedure designed to reduce suppression effect by focusing on a specific chemotherapeutic treatment, and to remove confounding effects such as batch effect, patient's age, and tumor stages. (biomedcentral.com)
  • This location skew is thought to reflect selective advantages associated with gene dosage effects during the replication cycle. (asm.org)
  • The distance from OriC had only a small effect on growth rate, consistent with this operon having the natural ability to upregulate expression and compensate for reduced gene dosage. (asm.org)
  • In contrast, when the total EF-Tu concentration was limiting for the growth rate ( tufA deleted), we observed a strong gene dosage effect when tufB was located further from OriC. (asm.org)
  • Our findings demonstrate that, at least for the tufB operon, gene dosage is probably not the dominant force selecting for a chromosomal location close to OriC. (asm.org)
  • We conclude, at least for tufB , that forces other than gene dosage may be significant in selecting for chromosomal location. (asm.org)
  • The most radical effects are generated by juxtaposing the minimal stripe enhancers MSE2 and MSE3 for stripes 2 and 3 with and without small "spacer" segments less than 360 bp in length. (prolekare.cz)
  • dominant gene one that produces an effect (the phenotype) in the organism regardless of the state of the corresponding allele. (thefreedictionary.com)