Exchange chromosome breakage. Medical search. Frequent questions

These were characterized by striking morphological aberrations such as elongation and despiralization (uncoiling or incomplete contraction), increased frequency of chromosome breakage and centromere spreading. (karger.com)
The test item did not induce a significant level of chromosome aberrations in Chinese hamster V79 cells in the performed experiments with and without metabolic activation. (europa.eu)
Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. (biomedcentral.com)
Chromosome 9 aberrations involving the terminal end of p arm, such as terminal p deletions or ring chromosomes have been reported to cause 46,XY DSD. (biomedcentral.com)
Previously we had shown that the increased chromosome aberrations in ATM and NBS defective lines was due to a significantly larger quadratic dose-response term compared to normal fibroblasts for both simple and complex exchanges. (elsevierpure.com)
Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
It is observed that both biological effects and epidemiological effects appear to be the same or very similar from ELF exposure and from RF/MW exposures, including calcium ion efflux, melatonin reduction, DNA strand breakage, chromosome aberrations, leukaemia, brain cancer, breast cancer, miscarriage and neurological effects. (whale.to)
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. (lookformedical.com)
Chromosome aberrations may result in CHROMOSOME DISORDERS. (lookformedical.com)
or other CHROMOSOME BREAKAGE related aberrations. (lookformedical.com)

The reciprocal exchange of segments at corresponding positions along pairs of homologous CHROMOSOMES by symmetrical breakage and crosswise rejoining forming cross-over sites (HOLLIDAY JUNCTIONS) that are resolved during CHROMOSOME SEGREGATION. (harvard.edu)
At Institut Curie, the "Chromosome Dynamics and Recombination" team headed by Valérie Borde, CNRS research director, identified the molecularbases of this mechanism - during meiosis - involving pairing and recombination of homologous chromosomes, using the Saccharomyces cerevisiae yeast model. (institut-curie.org)
During meiosis, the homologous chromosomes of the germ line cells (the cells that produce oocytes or sperm) separate, and each gamete inherits only one maternal or paternal copy of each chromosome. (institut-curie.org)
To do this, the homologous chromosomes have to meet, then pair along their entire length, before being separated and distributed into each daughter cell. (institut-curie.org)
During this process, the genetic material is also rearranged between the homologous chromosomes. (institut-curie.org)
Nodes" (Holliday junctions) form between the homologous chromosomes to make them exchange their arms, during crossing over. (institut-curie.org)
At the same time, the homologous chromosomes are paired along their entire length within a "zip" -like structure, namely the synaptonemal complex. (institut-curie.org)
When this link is broken following Zip4 mutations, the "zip" between the homologous chromosomes is no longer present, and the meiotic recombination is deregulated. (institut-curie.org)
The authors deliberately induced a single DSB in one of the homologous chromosomes in a diploid yeast strain and achieved homologous recombination-based "loss of heterozygosity" events within 20 kb of the target site. (life-science-alliance.org)
The pairing of homologous chromosomes is known as synapsis and is an exact, not a random process, for it starts at one or more points along the length of chromosomes and the chromomeres of one homologous synapse exactly with the corresponding one in the other. (biologystudypoint.com)
The homologous chromosomes twine around each other and each starts splitting into two sister chromatids by a vertical or longitudinal furrow, but the division is not obvious. (biologystudypoint.com)
Diplotene - The splitting of chromosomes and the separation of homologous chromosomes initiates diplotene. (biologystudypoint.com)
The synaptic forces of attraction between them lapse, and the homologous chromosomes uncoil and separate. (biologystudypoint.com)

Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. (wikipedia.org)
Crossing-over typically occurs during MEIOSIS but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes. (harvard.edu)
preferential isochromatid breakage of the X chromosome during male meiosis. (geneconvenevi.org)
Karyotypes of Calomyscus from different regions of Turkmenistan, Iran, and Azerbaijan were studied using chromosome banding G- and C-banding and analyses of meiosis in laboratory hybrids. (isenseo.com)
Although a detailed molecular understanding of these distorters has remained elusive, cytological observations indicated that a bias towards male gamete production in Aedes is associated with preferential breakage of the X chromosome during male meiosis, thus suggesting one possible mechanism of action 6 . (nature.com)
We therefore hypothesized that the selective induction of DNA double-stranded breaks in the X chromosome during male meiosis might be a potential strategy to distort the sex ratio of the progeny towards male mosquitoes, if the normal production of Y-bearing gametes was unaffected ( Fig. 1a ). (nature.com)
Inhibition of transcription or RNA splicing phenocopies the chromosome alignment errors and spindle defects, suggesting that pericentric transcription during oocyte meiosis is required to regulate heterochromatin structure, chromosome segregation and maintenance of spindle organization. (bvsalud.org)

Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. (wikipedia.org)
In the second half of the cell cycle the chromosomes clone themselves so that at mitosis, cell division, each cell has a full set of chromosomes. (whale.to)

blood and skin cells show a characteristic pattern of chromosome breakage and rearrangement. (medscape.com)
Comparisons between the genomes of the closely related nematodes Caenorhabditis elegans and Caenorhabditis briggsae reveal high rates of rearrangement, with a bias towards within-chromosome events. (biomedcentral.com)
An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end. (short-fact.com)
An inversion occurs when a single chromosome undergoes breakage and rearrangement within itself. (short-fact.com)

The precise separation of these chromosome pairs is essential to ensure that gametes are generated with the proper chromosome content, thus avoiding problems of sterility and/or anomalies of chromosome segregation (as with Down Syndrome or Turner Syndrome). (institut-curie.org)

About half of individuals with Nijmegen breakage syndrome develop non-Hodgkin lymphoma, usually before age 15. (medlineplus.gov)
Other cancers seen in people with Nijmegen breakage syndrome include brain tumors such as medulloblastoma and glioma, and a cancer of muscle tissue called rhabdomyosarcoma. (medlineplus.gov)
People with Nijmegen breakage syndrome are 50 times more likely to develop cancer than people without this condition. (medlineplus.gov)
Most women with Nijmegen breakage syndrome are unable to have biological children (infertile). (medlineplus.gov)
The exact prevalence of Nijmegen breakage syndrome is unknown. (medlineplus.gov)
Mutations in the NBN gene cause Nijmegen breakage syndrome. (medlineplus.gov)
The NBN gene mutations that cause Nijmegen breakage syndrome typically lead to the production of an abnormally short version of the nibrin protein, which prevents it from responding to DNA damage effectively. (medlineplus.gov)
Nijmegen breakage syndrome gets its name from numerous breaks in DNA that occur in affected people's cells. (medlineplus.gov)
A buildup of these breaks lead to errors in DNA that can trigger cells to grow and divide abnormally, increasing the risk of cancer in people with Nijmegen breakage syndrome. (medlineplus.gov)
Additionally, medical radiation or chemotherapy, which is often used to treat cancers, can cause further DNA damage in people with Nijmegen breakage syndrome. (medlineplus.gov)
Nibrin's role in regulating cell division and cell growth (proliferation) is thought to lead to the immunodeficiency seen in individuals with Nijmegen breakage syndrome. (medlineplus.gov)
Nijmegen breakage syndrome (NBS) is also an autosomal recessive chromosomal instability syndrome. (medscape.com)

Robertsonian translocation: An entire chromosome has attached to another at the centromere - in humans, these only occur with chromosomes 13, 14, 15, 21, and 22. (wikipedia.org)
Isochromosome: Formed by the mirror image copy of a chromosome segment including the centromere. (wikipedia.org)
Chromosome breakage is almost completely confined to four sites, two adjacent to the centromere, one just proximal to the intercalary band and another about the centre of the unbanded arm. (geneconvenevi.org)
Note that the instability is not in the centromere itself, but rather in the region adjacent to the centromere (qh), predominantly in chromosomes 1 and 16. (biomedcentral.com)
ICF (OMIM #24242860) is a rare autosomal recessive disease that involves agammaglobulinemia or hypoglobulinemia with B cells as well as DNA rearrangements targeted to the centromere-adjacent heterochromatic region (qh) of chromosomes 1 and/or 16 (and sometimes 9) in mitogen-stimulated lymphocytes. (biomedcentral.com)

The chromosomes in the leptotene stage are thin and long threads and longitudinally single rather than double as in mitosis. (biologystudypoint.com)

Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. (wikipedia.org)
Testing for chromosome instability, including the presence of quadriradicals and increased sister chromatid exchanges, is performed at the US National Institutes of Health and US Armed Forces Institute of Pathology laboratories. (medscape.com)
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. (biomedcentral.com)
[ 7 , 8 ] Sister chromatid exchanges are considered a sensitive indicator for cell genome instability, as they are thought to be the outcome of DNA double-strand breaks resulting from homologous recombination repair. (medscape.com)
Depletion of satellite RNA induces mesoscale changes in pericentric heterochromatin structure leading to chromosome instability, kinetochore attachment errors and abnormal chromosome alignment. (bvsalud.org)
Chromosome misalignment is associated with spindle defects, microtubule instability and, unexpectedly, loss of acentriolar microtubule organizing centre (aMTOC) tethering to spindle poles. (bvsalud.org)
Chromosomal instability (CIN) induces a high rate of losses or gains of whole chromosomes or parts of chromosomes. (bvsalud.org)
To assess global chromosomal instability with high precision, we focused on the total number of DNA breakpoints of gains or losses of chromosome arms. (bvsalud.org)

These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. (wikipedia.org)
Most chromosome abnormalities occur as an accident in the egg cell or sperm, and therefore the anomaly is present in every cell of the body. (wikipedia.org)
Numerical abnormalities, chromatid exchanges and translocations were virtually absent. (karger.com)
The genetic controversy about LSD started in 1967 when Cohen, Marinello and Back (22) published a paper suggesting that LSD should be added to the list of substances capable of causing abnormalities in the chromosomes. (druglibrary.net)
However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)

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). (lookformedical.com)

Much of this DNA hypomethylation is in 1qh, 9qh, and 16qh, regions that are the site of whole-arm deletions, chromatid and chromosome breaks, stretching (decondensation), and multiradial chromosome junctions in mitogen-stimulated lymphocytes. (biomedcentral.com)

Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. (wikipedia.org)
Known human disorders include Charcot-Marie-Tooth disease type 1A, which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. (wikipedia.org)
Neither sister-chromatid exchange nor gene-targeting frequencies show a dependence on these NHEJ proteins. (arizona.edu)
These breaks remain open at least until anaphase-I and, since the range of cells affected is proportional to the sensitivity of the X chromosome to the Distorter gene, it is argued that they are directly related to the decreased number of spermatozoa found in distorting males. (geneconvenevi.org)
Sex reversal due to haploinsufficiency of DMRT1 gene in ring chromosome 9 structures is exceedingly rare with only a handful of cases ever reported. (biomedcentral.com)
Sex determination and development in males occurs during the embryonic period, and is initiated by the expression of SRY gene located on the short arm of the Y chromosome. (biomedcentral.com)
Gene mutations involve a change in the base sequence of chromosomes. (short-fact.com)
Here we generate a synthetic sex distortion system by exploiting the specificity of the homing endonuclease I-PpoI, which is able to selectively cleave ribosomal gene sequences of the malaria vector Anopheles gambiae that are located exclusively on the mosquito's X chromosome. (nature.com)

When the chromosome's structure is altered, this can take several forms: Deletions: A portion of the chromosome is missing or has been deleted. (wikipedia.org)

Originally, "translocation" is a term from genetic chemistry that refers to an "exchange between chromosomes provoked by breakage and repair", an exchange that implies mutations. (booksandideas.net)
A number of scientific papers have been published indicating that LSD might cause structural changes in the chromosomes, genetic mutations, disturbances of embryonic development, and malignant degeneration of cells. (druglibrary.net)
Chromosomal alterations are mutations that change chromosome structure. (short-fact.com)

An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc. (wikipedia.org)
Abnormal number or structure of chromosomes. (lookformedical.com)

Breaks in DNA strands also occur naturally when chromosomes exchange genetic material in preparation for cell division . (medlineplus.gov)
Additionally, chromosomal rearrangements, increased rates of sister chromatid exchanges and double strand breaks have been observed in cells from heterozygous mutation carriers of BRCA2 [ 17 , 18 ]. (ijbs.com)
examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)
If two breaks occur in one chromosome, sometimes the region between the breaks rotates 180 degrees before rejoining with the two end fragments. (short-fact.com)

Autoradiographic studies of chromosomes after pulse-labelling with 3 H-thymidine during the terminal 6 h of phytohaemagglutinin-stimulated lymphocyte cultures revealed a differential pattern of distribution of the radionucleotide in the chromosomes of megaloblastic lymphocytes as compared to those from normal lymphocytes. (karger.com)

Inversions: A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted. (wikipedia.org)

CGH array revealed a deletion around 1.25 Mb at 9p24.3 loci [arr 9p24.3(204,193-1,457,665)× 1] and three duplications around 13 Mb [9p24.3p22.3(1,477,660-14,506,754)× 3] near the breakage point that formed the ring chromosome 9. (biomedcentral.com)
When only part of an X chromosome is missing (deletion), a girl with the syndrome will often have milder signs of TS. (short-fact.com)

If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)

This complex exerts control over the number and distribution of recombination events along the chromosomes. (institut-curie.org)

Possible approaches for cytogenomic assessment of couples with balanced chromosome rearrangements and problems like reproductive failures were considered and suggested as useful part of effective genetic counseling. (metasystems-probes.com)
These are some of the most common cytogenetically visible rearrangements in humans - for example , the pericentric inversion of chromosome 9 is found in over. (schleiden-eifel.de)
The frequency of these rearrangements is high enough to be detected upon routine cytogenetic examination of metaphase chromosomes. (biomedcentral.com)
Estimation of rates of intrachromosomal to between-chromosome rearrangements showed that both were very frequent (approximately fourfold greater than that observed in D. melanogaster ). (biomedcentral.com)

Aneuploidy can occur with sex chromosomes or autosomes. (wikipedia.org)
The present study provides evidence that the increased radiation sensitivity of AT cells for chromosomal exchanges found at high dose does not occur at low dose. (elsevierpure.com)

By this process, four daughter cells are formed from the single parental cell and the chromosome number in them (the daughter cells or gametes) is reduced to half (haploid). (biologystudypoint.com)
The nucleus now appears to have only the haploid number of chromosomes. (biologystudypoint.com)
This results in the formation of two groups of haploid chromosomes on either pole. (biologystudypoint.com)
Thus, two daughter cells, each with haploid number of chromosomes, are formed from a parental cell. (biologystudypoint.com)
a complete haploid set of chromosomes is present. (schleiden-eifel.de)

A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species. (lookformedical.com)

Aneuploidy can be full, involving a whole chromosome missing or added, or partial, where only part of a chromosome is missing or added. (wikipedia.org)

An example of monosomy in humans is Turner syndrome, where the individual is born with only one sex chromosome, an X. Exposure of males to certain lifestyle, environmental and/or occupational hazards may increase the risk of aneuploid spermatozoa. (wikipedia.org)
Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. (medscape.com)
The clinical presentation of the subject that mimics Turner syndrome highlights the importance of cytogenetic analysis to detect the possibility of ring chromosome 9. (biomedcentral.com)
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)
Patients with Bloom's syndrome, a rare chromosome breakage syndrome caused by inactivation of the RecQ helicase BLM, result in phenotypes associated with accelerated aging and develop cancer at a very young age. (usf.edu)

Duplications: A portion of the chromosome has been duplicated, resulting in extra genetic material. (wikipedia.org)

In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)

Although hybrids of these two species inherit three chromosomes from each parent, the majority of spores (the yeast equivalent of sperm) that these hybrids produce fail to develop into new yeast cells. (elifesciences.org)

This terminal region of chromosome 9p (9p24.3 region) contains 3 types of DMRT genes ( DMRT1 - 3 ). (biomedcentral.com)
A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes-ROCK1 and USP14-that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. (schleiden-eifel.de)
Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)

All the other chromosomes are still arranged in pairs of two, but. (schleiden-eifel.de)
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)

The expression of wild-type I-PpoI during spermatogenesis in transgenic mosquitoes causes cleavage of the paternal X chromosome but also results in complete male sterility because the protein's stability and persistence in mature sperm cells leads to subsequent cleavage of the maternal X chromosome in the zygote 9 . (nature.com)

There are two main types of translocations: Reciprocal translocation: Segments from two different chromosomes have been exchanged. (wikipedia.org)
Vertebrate chromosomes are mosaic structures containing large conserved segments that can reside in different linkage groups in different species. (biomedcentral.com)

Although the first three of these lie within a region in which crossing-over does not take place, fragmentation occurs more frequently in a chiasmate arm than in one devoid of chromatid exchange. (geneconvenevi.org)
Exchange of chromatid parts between the homologues occurs due to the breakage and rejoining of weaker chromatids at chiasmata. (biologystudypoint.com)
Which type of mutation occurs when a segment of a chromosome is overturned from end to end? (short-fact.com)

Translocations: A portion of one chromosome has been transferred to another chromosome. (wikipedia.org)

Eukaryotic DNA replication initiates at multiple origin sites along each chromosome and terminates when replication forks (RFs) from adjacent origins converge. (elifesciences.org)

Using genetics, proteomics and in silico modeling of protein interaction fields, the Chromosome Dynamics and Recombination team (Institut Curie, CNRS, Sorbonne University), led by Valérie Borde, in collaboration with CEA/12BC researchers, identified a protein, Zip4 (TEX11 in humans), which makes a direct connection between the recombination machinery and the central elements of the synaptonemal complex (Ecm11-Gmc2). (institut-curie.org)
A substitution is a mutation that exchanges one base for another (i.e., a change in a single "chemical letter" such as switching an A to a G). Such a substitution could: change a codon to one that encodes a different amino acid and cause a small change in the protein produced. (short-fact.com)

Mules are infertile because they inherit 32 chromosomes from their horse parent, but only 31 chromosomes from their donkey parent-and so have an odd chromosome that they cannot pair-off when they make sperm or egg cells. (elifesciences.org)
However, even if a hybrid inherits the same number of chromosomes from each parent, if the chromosomes from the two parents have different structures, the hybrid may still be infertile. (elifesciences.org)

A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. (lookformedical.com)

22) * After my arrival in the United States, I participated in a major study concentrating on structural changes of the chromosomes in the white blood cells following LSD administration. (druglibrary.net)
The first group includes papers describing structural changes of the chromosomes produced by LSD in vitro , ** in these experiments various concentrations of LSD are added to cultures of cells from human, animal, or plant tissues in a test-tube. (druglibrary.net)
The possibility of inducing structural changes in the chromosomes by exogenous agents such as radiation, viruses, and a variety of chemicals, has been a subject of great scientific interest for a long time. (druglibrary.net)

At least three distinct meiotic drive alleles, one on each S. kambucha chromosome, independently contribute to hybrid infertility by causing nonrandom spore death. (elifesciences.org)

The separation of tetrads into dryads or a pair of chromatids is known as disjunction and involves the separation of chromosomes which were previously brought together during synapsis. (biologystudypoint.com)

The linear dose-response term for simple exchanges was significantly higher in NBS cells compared to wild type cells, but not for AT cells. (elsevierpure.com)
However, AT cells have a high background level of exchanges compared to wild type or NBS cells that confounds the understanding of low dose responses. (elsevierpure.com)
Gy/d), and results provided further evidence for the lack of sensitivity for exchanges in AT cells below doses of 1. (elsevierpure.com)
Normal lung fibroblast cells treated with KU-55933, a specific ATM kinase inhibitor, showed increased numbers of exchanges at a dose of 1. (elsevierpure.com)

Multicolor banding, chromosomal microarray analysis, chromosome microdissection with reverse painting, and single-copy sequencing of the rearranged chromosome were performed to determine the length and position of the inverted region as well as to rule out a genetic imbalance at the breakpoints. (metasystems-probes.com)

Anatomy65

Organisms8

Diseases25

Chemicals and Drugs36

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Psychiatry and Psychology1

Phenomena and Processes154

Disciplines and Occupations1

Technology, Industry, Agriculture2

Information Science4

Health Care1

Aberrations10

Homologous chromosomes13

Meiosis7

Full set of chromosomes2

Rearrangement4

SEGREGATION1

Nijmegen12

Centromere5

Mitosis1

Instability8

Abnormalities5

Single chromosome1

JUNCTIONS1

Gene8

Deletions1

Mutations3

Abnormal2

Breaks4

Lymphocytes1

Inversions1

Deletion2

Diploid cell1

Recombination events1

Rearrangements4

Occur2

Haploid5

Somatic1

Aneuploidy1

Syndrome5

Genetic material1

Abnormality1

Yeast1

Genes3

Pairs2

Sterility1

Segments2

Occurs3

Translocations1

Initiates1

Protein2

Infertile2

Terminal1

Structural3

Meiotic1

Separation1

Cells4

Breakpoints1