Chromosomal position effects. Medical search. Frequent questions

To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced chromosomal abnormalities. (researcher-app.com)
Chromosomal abnormalities are common causes of birth defects that can affect the brain and other parts of the body. (solarpoultry.com)
Chromosomal abnormalities are changes to the number or structure of chromosomes that can lead to birth defects or other health disorders. (solarpoultry.com)
Other evidence of chromosomal abnormalities include abnormal sexual development, behavioral disturbances, malignancy (e.g., the Philadelphia chromosome in chronic myelocytic leukemia), and spontaneous abortion. (solarpoultry.com)
They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity of chromosomal aberrations in these patients is typically assessed based on criteria such as phenotypic similarity to other patients with the same or overlapping aberration, absence in healthy individuals, de novo occurrence, and protein coding gene content. (biomedcentral.com)
Mosaic) aneuploidies and chromosomal rearrangements are a frequent cause of idiopathic MCA/MR. Starting in 1959 with the identification of trisomy-21 as the genetic basis of Down syndrome [ 10 ], microscopic observation of metaphase chromosomes has for several decades been the method of choice for detecting chromosome abnormalities in MCA/MR patients. (biomedcentral.com)
In consecutive, unselected MCA/MR patients karyotyping enables the detection of pathogenic chromosomal abnormalities in about 4% of cases (excluding Down syndrome), despite its limited resolution to about 5-10 Mb. (biomedcentral.com)
With the development and progression of MM, several distinct patterns of genetic aberration are recognized, including cytogenetic abnormalities, chromosomal aberration and signaling pathway disorders ( 4 ). (spandidos-publications.com)
Disorders of sexual development (DSD), formerly termed 'intersex', are congenital abnormalities in the development of chromosomal (abnormalities in XX or XY sex chromosome number or structure), gonadal (testicular, ovarian and ovotesticular DSD, previously termed true hermaphrodite, or dysgenesis) or phenotypic (male or female with abnormalities of tubular and external genitalia) sex. (scielo.org.za)
If you are over 35 years of age or have a family history of genetic illness then you can talk with your health care provider to guide you with prenatal tests which can be performed between the ninth and the twelfth week to detect chromosomal abnormalities and genetic disorders if any. (yusrablog.com)

In addition, the Eastmond laboratory has an active research program in which molecular cytogenetic techniques are used to detect chromosomal alterations occurring in chemically exposed human populations. (cdc.gov)

Chromosomal alterations such as translocations, deletions and tandem duplications intersecting with insulated neighborhood anchor sites can activate oncogenes. (wikipedia.org)
The ability of CRISPR-Cas9 to introduce several concurrent DSBs at defined positions has enabled engineering of tumor-associated chromosomal translocations resembling those observed in cancers, and hence to establish and test novel in vitro and in vivo tumor models ( 2 , 23 , 24 , 25 ). (life-science-alliance.org)

Presentation Summary : Human Chromosomal Disorders Human disorders due to chromosome alterations in autosomes (Chromosomes 1-22). (solarpoultry.com)
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. (harvard.edu)

The researchers applied a method called 'Hi-C' (High-throughput Chromosome Conformation Capture) to samples from patients with developmental disorders suspected to be caused by chromosomal rearrangements. (mpg.de)
Gene organization in the bacterial chromosome has very well known effects on transcription and a standard example is the organization of genes into operons, which allows for a sophisticated regulation of gene expression [ 9 ]. (biomedcentral.com)
Although this chromosome-position dependent expression variation has been empirically mapped at high-resolution, the underlying causes of the variation have not been elucidated. (biorxiv.org)
Position effect is the effect on the expression of a gene when its location in a chromosome is changed, often by translocation. (definitions.net)
Position effect refers to the phenomenon in genetics where the physical position of a gene on a chromosome or within the genome influences its expression or mutation rate. (definitions.net)
The biological processes impacted by epigenetics are vast and encompass effects in lower organisms and humans that include tissue and organ regeneration, X-chromosome inactivation, stem cell differentiation, genomic imprinting, and aging. (elsevier.com)
Down Syndrome - Extra chromosome at position 21. (solarpoultry.com)
Trisomy 21, also referred to as Down's syndrome, is a chromosomal aberration characterized by the presence of an additional chromosome 21.Trisomy 21 is associated with a rate of incidence of 1:600 among newborns and is one of the most common chromosomal … However, they can also have detrimental effects. (solarpoultry.com)
The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 10. (medlineplus.gov)
The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26. (medlineplus.gov)
People with 10q26 deletion syndrome are missing between 3.5 million and 17 million DNA building blocks (base pairs), also written as 3.5 and 17 megabases (Mb), at position q26 on chromosome 10. (medlineplus.gov)
Other changes in the number or structure of chromosome 10 can have a variety of effects. (medlineplus.gov)
Studies of position-effect variegation have revealed that heterochromatic and euchromatic domains are interspersed on chromosome 4, and both cytological and biochemical studies have demonstrated that chromosome 4 is associated with heterochromatic marks, such as heterochromatin protein 1 and histone 3 lysine 9 methylation. (wustl.edu)
Chromosome 4 is also marked by POF (painting-of-fourth), a chromosome 4-specific chromosomal protein, and utilizes a dedicated histone methyltransferase, EGG. (wustl.edu)
Quantitative analysis of IR-induced LOH at different positions between the telomere and the centromere on the X chromosome showed a strong sex-dependence and the need for a recombination-proficient homologous chromosome whereas, paradoxically, position along the chromosome made little difference in LOH incidence. (bvsalud.org)

Chromosomal rearrangements may alter these interaction patterns and can thus be seen in the analysis. (mpg.de)
26 ) leveraged the CRISPR-Cas9 system to produce other chromosomal rearrangements, generating targeted mitotic recombination events in yeast to enable the fine mapping of trait variants. (life-science-alliance.org)
Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. (researcher-app.com)
These results highlight the important interplay between chromosomal structure and disease and demonstrate the need to utilize chromatin conformational data for the prediction of position effects in the clinical interpretation of non-coding chromosomal rearrangements. (researcher-app.com)

General designation for syndromes due to chromosomal aberrations, typically associated with mental … Thus, there are normally 23 pairs of chromosomes in the fertilized egg. (solarpoultry.com)
In spite of the clear association between large ( de novo ) CNVs and other SVs (collectively known as chromosomal aberrations) with MCA/MR phenotypes [ 9 ], precise characterization of molecular mechanisms that cause disease in individual patients is often unknown. (biomedcentral.com)
In the following sections we first provide an overview of current methods for diagnostic detection and interpretation of chromosomal aberrations in MCA/MR patients. (biomedcentral.com)
Subsequently, the introduction and relevance of new methods for high-resolution dissection of breakpoints of chromosomal aberrations is discussed. (biomedcentral.com)

The effects of these mutations unexpectedly suggested that pairs of chromosomes might be interacting to control the activity of this gene. (elifesciences.org)

These phenotypes are often due to a chromosomal translocation such that the color gene is now close to a region of heterochromatin. (definitions.net)

Even if all genes remain intact after a chromosomal break, serious problems may occur. (mpg.de)
The team examined clinical samples from blood, skin and amniotic fluid of nine patients with chromosomal breaks but without damage to known genes. (mpg.de)
The change in expression can occur due to the gene being moved to a new location (as in chromosomal translocation), or due to changes in nearby genes or regulatory regions. (definitions.net)
The goal was to understand which sections of DNA controlled where and when genes are activated to result in this structure being reliably located in its correct position. (elifesciences.org)
We confirm gene-expression changes for a couple of candidate genes to exemplify the utility of our analysis of position effect. (researcher-app.com)
We are particularly focused on the form of chromatin regulation known as transcriptional silencing and study its effects on yeast and human genes. (ucsd.edu)
DNA methylation, a form of epigenetic control of gene transcription, refers to cytosine methylation at position 5 in the pyrimidine ring, which can result in inappropriate silencing of genes involved in diverse biological processes, including cell proliferation, apoptosis, migration and cell cycle arrest ( 5 ). (spandidos-publications.com)
Additionally, we confirmed by in situ analysis (3D-FISH [three-dimensional fluorescence in situ hybridization]) that chromosomal looping occurs between the loci of those genes and their respective telomere ends. (hal.science)
Characterization of two genes required for the position-effect control of yeast mating-type genes. (ox.ac.uk)

However the population exposed in the workplace is highly homogeneous and the health of the work force is typically good (healthy worker effect) while metabolic differences due to genetic polymorphisms do not automatically require an increased assessment factor since compensating mechanisms (including alternative pathways of elimination) are often present (ECETOC, 2003, 2010). (europa.eu)

This has been well described in Drosophila with respect to eye color and is known as position effect variegation (PEV).The phenotype is well characterised by unstable expression of a gene that results in the red eye coloration. (definitions.net)
This has been well described in Drosophila with respect to eye color and is known as position effect variegation. (definitions.net)
Based on sequence information from the SET domain, we have isolated human (SUV39H1) and mouse (Suv39h1) homologues of the dominant Drosophila modifier of position-effect-variegation (PEV) Su(var)3-9. (embl-heidelberg.de)

Linkage analysis reveals that the mutations map to unique chromosomal locations. (edu.au)
We have studied the effect of five of the mutations on expression of an endogenous allele known to be sensitive to epigenetic state, agouti viable yellow. (edu.au)
The SIR2 and SIR3 coding sequences were identified by constructing gene disruptions and using these mutations to replace the normal chromosomal copies. (ox.ac.uk)
A population evolving toward a new evolutionary optimum is more likely to substitute large-effect mutations in the first generations, while subsequent generations continue to fix smaller-effect mutations. (springer.com)

To explain the X,t(Y;22) individual, it was proposed that she was female because of a chromosomal position effect or delayed development of the gonadal soma. (nih.gov)

read more non-histone chromosomal proteins in Tom Grigliatti's laboratory at the University of British Columbia. (hstalks.com)
The chromo and SET domains are conserved sequence motifs present in chromosomal proteins that function in epigenetic control of gene expression, presumably by modulating higher order chromatin. (embl-heidelberg.de)

In mammalian biology, insulated neighborhoods are chromosomal loop structures formed by the physical interaction of two DNA loci bound by the transcription factor CTCF and co-occupied by cohesin. (wikipedia.org)
Such null mutants of both SIR2 and SIR3 are defective in the position-effect control of the silent loci but have no other detectable phenotype. (ox.ac.uk)
The application of such technologies will require to reliably estimate the effect of loci in plant genomes by avoiding the situation where the number of loci assayed ( p ) surpasses the number of plant genotypes ( n ). (springer.com)

Recombinase-mediated site-specific gene integration into a predetermined chromosomal locus may enable predictable protein expression, reducing the laborious process of cell screening. (elsevierpure.com)

Genomic studies on bacteria have clearly shown the existence of chromosomal organization as regards, for example, to gene localization, order and orientation. (biomedcentral.com)
Moreover, transcriptomic analyses have demonstrated that, in free-living bacteria, gene transcription levels and chromosomal organization are mutually influenced. (biomedcentral.com)
This is a perfect illustration of the mutual influence between gene expression levels and chromosomal organization in bacteria. (biomedcentral.com)
In this project you will develop computational methods for assembling fragmented (noisy) optical DNA maps into full chromosomal maps for bacteria. (lu.se)

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

See more ideas about Chromosomal disorders, Disorders, Syndrome. (solarpoultry.com)
Chromosomal Disorders - Free download as Powerpoint Presentation (.ppt), PDF File (.pdf), Text File (.txt) or view presentation slides online. (solarpoultry.com)
Chromosomal disorders: numerical disorders The most frequent cause of numerical disorders in chromosomes tends to be n ondisjunction. (solarpoultry.com)
Chromosomal Disorders. (solarpoultry.com)
chromosomal disorders It is caused due to absence or excess or abnormal arrangement of one or more chromosomes. (solarpoultry.com)
As shown in Fig. Non-invasive prenatal diagnosis (NIPD) of chromosomal disorders is a new method introduced in recent years. (solarpoultry.com)
Human Chromosomal Disorders - PBworks PPT. (solarpoultry.com)

We are interested in all aspects of these chromosomal and chromatin effects because they underlie epigenetic processes that are critical for normal growth and development. (ucsd.edu)

He was named 2005's most innovative new scientist at Invitrogen, and now has the position of Sr. R&D Manager within Cell and Protein Analysis Division of ThermoFisher Scientific. (hstalks.com)

A clinician-friendly environment for clinical correlation can be provided to clinicians who are best positioned to have the clinical information needed for this interpretation. (biomedcentral.com)

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

Despite an important reduction in its genome size and an apparent decay of its capacity for regulating transcription, this work reveals a significant correlation between mRNA abundances and chromosomal organization of the aphid-symbiont Buchnera . (biomedcentral.com)

The effect that symptomatic suppression has upon the long-term course of the syndrome is unknown. (nih.gov)
They thought that inefficient removal of peroxide might be responsible for the high rates of sister chromatid exchange and chromosomal damage in Bloom syndrome cells. (medscape.com)

We have explored the possible conservation of relationships between mRNA abundances and chromosomal organization in the highly reduced genome of Buchnera aphidicola , the primary endosymbiont of the aphids, and a close relative to Escherichia coli . (biomedcentral.com)
To date, few notions regarding the bivalent role of F-actin on sperm chromatin organization and IZUMO1 positioning have been reported. (ijbs.com)

Recent experiments have shown that in addition to control by cis regulatory elements, the local chromosomal context of a gene also has a profound impact on its transcription. (biorxiv.org)

Many of our master project students are subsequently recruited to PhD positions, either with us or elsewhere. (lu.se)

We term this process TPE-OLD for ''telomere position effect over long distances. (hal.science)

A gene's chromosomal position and local chromatin structure can have profound consequences for its expression. (ucsd.edu)

The most common mutation is the deletion of 6 nucleotides at position 2281 and their replacement with 7 others, which occurs most commonly in Ashkenazi Jews. (medscape.com)

Cryptorchidism is a condition whereby one or both testes and the associated structures are absent in the scrotum because of a failure of the testes to descend from the pre-natal abdominal position. (scielo.org.za)
Furthermore, data available for 3a,4,7,7a-tetrahydro-4,7-methanoindene, together with information available for chemically-related structures , do not raise concern for possible differences in effect within or between species. (europa.eu)

The relative DNA chain-terminating effect of ara-C provides several mechanisms of action that explain internucleotide and chain terminus positioning of ara-C residues, reinitiation of previously replicated DNA segments, and DNA strand or chromosomal breaks. (aspetjournals.org)

This is largely a result of the complex effects of breakpoints on gene structure, function and expression. (biomedcentral.com)
The effect on scFv-Fc productivity of PE position and orientation within the transgene was evaluated, while keeping the background chromosomal structure constant. (elsevierpure.com)
In particular, sperm head shaping, that coincides with acrosome biogenesis process, is supported by the acroplaxome, a nucleo-skeletal structure which not only anchors the acrosome to the nuclear envelope, ensuring its correct positioning, but also provides a mechanical scaffold plate during the nuclear shaping of the spermatid. (ijbs.com)

2 The study also found 'increased risks of injury-related and other (nonrespiratory, noninjury) outpatient visits among marijuana smokers, suggesting that marijuana use may have many adverse health effects' (emphasis added).2 The authors concluded that '[D]aily marijuana smoking, even in the absence of tobacco, appeared to be associated with an elevated risk of health care use for various health problems. (druglibrary.net)
The ATSDR toxicological profile succinctly characterizes the toxicologic and adverse health effects for the substance being described. (cdc.gov)
special emphasis on accurate estimation of adverse health effects associated with chemical exposure in human populations. (cdc.gov)

However, the loss of large sections of the genome or their relocation to new positions can also have dramatic effects. (mpg.de)
The effect of Buchnera genome evolution on gene expression levels has also been analysed in order to assess the constraints imposed by the obligate symbiosis with aphids, underlining the importance of some gene sets for the survival of the two partners. (biomedcentral.com)
Position effect is also used to describe the variation of expression exhibited by identical transgenes that insert into different regions of a genome. (definitions.net)
2018) Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk. (harvard.edu)

of someones chromosomes (while a cell is in mitosis), cut them out and match them up using size, banding pattern and centromere position as guides. (solarpoultry.com)

There are no data to quantify variability in susceptibility to the effects of exposure to 3a,4,7,7a-tetrahydro-4,7-methanoindene in the human population. (europa.eu)

the final two positions (L111 and H106) are found in small hydrophobic core regions in each subunit. (nature.com)
This chromosomal abnormality is found only in cancer cells. (medlineplus.gov)

However, other mechanisms of disease causation have also been described where (1) a breakpoint disrupts or alters gene expression via a position effect 7 or (2) a cryptic deletion or duplication is identified at the translocation breakpoint. (bmj.com)

However, 5‑Aza‑CdR exerted no effect on p53 expression. (spandidos-publications.com)
The enhancing effect of the PE on transgene expression was also observed when two or three PE-flanked expression units were inserted as tandem repeats. (elsevierpure.com)

Another example is the significant effect of DNA supercoiling on transcription. (biomedcentral.com)

It contains many active substances with multiple effects and several (unknown) mechanisms of action. (druglibrary.net)
However, prevalence of those polymorphisms and effects of cumulative resistance mechanisms have not been fully evaluated. (cdc.gov)

However, in differentiated cells, loss of HP1β has the opposite effect, perturbing maintenance of the differentiation state and facilitating reprogramming to an induced pluripotent state. (biomedcentral.com)

The first task was the replacement of cassette containers that hold sample materials for an experiment studying the effect of long-duration exposure to the microgravity environment. (spacefacts.de)

IR is used to treat more than half of cancer patients, so understanding its effects is of biomedical relevance. (bvsalud.org)

A group in Ankara gives such an example in a new paper on the effects of cell phone radiation on the brain tissue of rats. (microwavenews.com)

We consider the effects of the environment and both intergenerational and transgenerational epigenetic inheritance on biology, disease and evolution. (nature.com)

Expertise / Discipline: study of occupational and environmental exposures to chemicals and radiation as risk factors for cancer, autoimmune diseases, and intermediate biologic effects. (cdc.gov)

Effects of 1-beta-D-arabinofuranosylcytosine incorporation on eukaryotic DNA template function. (aspetjournals.org)

Anatomy1

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Phenomena and Processes4

Abnormalities10

Detect chromosomal1

Translocations2

Alterations2

Chromosome15

Rearrangements4

Aberrations4

Pairs of chromosomes1

Phenotypes1

Genes9

Genetic1

Variegation3

Mutations4

Gonadal1

Proteins2

Loci3

LOCUS1

Bacteria4

Typically1

Disorders7

Epigenetic Processes1

Protein1

Interpretation1

Leading strand1

Correlation1

Syndrome2

Organization2

Regulatory1

Subsequently1

Telomere1

Consequences1

Occurs1

Structures2

Residues1

Structure3

Adverse health effects3

Genome4

Centromere1

Human1

Found2

Deletion1

Expression2

Transcription1

Mechanisms2

Differentiation1

Exposure1

Patients1

Cell1

Disease1

Cancer1

Function1