Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
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)
Any method used for determining the location of and relative distances between genes on a chromosome.
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.
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.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
An antiviral antibiotic produced by Cephalosporium aphidicola and other fungi. It inhibits the growth of eukaryotic cells and certain animal viruses by selectively inhibiting the cellular replication of DNA polymerase II or the viral-induced DNA polymerases. The drug may be useful for controlling excessive cell proliferation in patients with cancer, psoriasis or other dermatitis with little or no adverse effect upon non-multiplying cells.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A group of enzymes that catalyze the hydrolysis of diphosphate bonds in compounds such as nucleoside di- and tri-phosphates, and sulfonyl-containing anhydrides such as adenylylsulfate. (Enzyme Nomenclature, 1992) EC 3.6.
Small double-stranded, non-protein coding RNAs, 21-25 nucleotides in length generated from single-stranded microRNA gene transcripts by the same RIBONUCLEASE III, Dicer, that produces small interfering RNAs (RNA, SMALL INTERFERING). They become part of the RNA-INDUCED SILENCING COMPLEX and repress the translation (TRANSLATION, GENETIC) of target RNA by binding to homologous 3'UTR region as an imperfect match. The small temporal RNAs (stRNAs), let-7 and lin-4, from C. elegans, are the first 2 miRNAs discovered, and are from a class of miRNAs involved in developmental timing.
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.
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)
A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.
NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.
The addition of descriptive information about the function or structure of a molecular sequence to its MOLECULAR SEQUENCE DATA record.
Instructional materials used in teaching.
The branch of pharmacology that deals directly with the effectiveness and safety of drugs in humans.
The direct struggle between individuals for environmental necessities or for a common goal.
A form of interactive entertainment in which the player controls electronically generated images that appear on a video display screen. This includes video games played in the home on special machines or home computers, and those played in arcades.
Forward displacement of a superior vertebral body over the vertebral body below.
The biological science concerned with the life-supporting properties, functions, and processes of living organisms or their parts.
The study of the origin, structure, development, growth, function, genetics, and reproduction of plants.
Polyploidy with three sets of chromosomes. Triploidy in humans are 69XXX, 69XXY, and 69XYY. It is associated with HOLOPROSENCEPHALY; ABNORMALITIES, MULTIPLE; PARTIAL HYDATIDIFORM MOLE; and MISCARRAGES.
A family of wingless, blood-sucking insects of the suborder HETEROPTERA, including the bedbugs and related forms. Cimex (BEDBUGS), Heamatosiphon, and Oeciacus are medically important genera. (From Dorland, 28th ed)
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
A genus of gram-negative, anaerobic, rod-shaped bacteria capable of reducing sulfur compounds to hydrogen sulfide. Organisms are isolated from anaerobic mud of fresh and salt water, animal intestines, manure, and feces.
DNA analogs containing neutral amide backbone linkages composed of aminoethyl glycine units instead of the usual phosphodiester linkage of deoxyribose groups. Peptide nucleic acids have high biological stability and higher affinity for complementary DNA or RNA sequences than analogous DNA oligomers.
An organism of the vegetable kingdom suitable by nature for use as a food, especially by human beings. Not all parts of any given plant are edible but all parts of edible plants have been known to figure as raw or cooked food: leaves, roots, tubers, stems, seeds, buds, fruits, and flowers. The most commonly edible parts of plants are FRUIT, usually sweet, fleshy, and succulent. Most edible plants are commonly cultivated for their nutritional value and are referred to as VEGETABLES.
Genes that encode highly conserved TRANSCRIPTION FACTORS that control positional identity of cells (BODY PATTERNING) and MORPHOGENESIS throughout development. Their sequences contain a 180 nucleotide sequence designated the homeobox, so called because mutations of these genes often results in homeotic transformations, in which one body structure replaces another. The proteins encoded by homeobox genes are called HOMEODOMAIN PROTEINS.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).
A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
All the organs involved in reproduction and the formation and release of URINE. It includes the kidneys, ureters, BLADDER; URETHRA, and the organs of reproduction - ovaries, UTERUS; FALLOPIAN TUBES; VAGINA; and CLITORIS in women and the testes; SEMINAL VESICLES; PROSTATE; seminal ducts; and PENIS in men.
A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.

How many tumor suppressor genes are involved in human lung carcinogenesis? (1/223)

To date, only a limited number of tumor suppressor genes have been identified as being inactivated in lung cancer. The p53 and RB genes are frequently inactivated by genetic alterations such as chromosomal deletions and loss-of-function mutations, while the p16 gene is inactivated not only by genetic alterations but also by transcriptional silencing due to hypermethylation. Recently, it was shown that the FHIT gene encompassing the chromosomal fragile site, FRA3B, is also inactivated in a large proportion of lung cancers. Several lines of evidence indicate the presence of additional tumor suppressor genes involved in lung carcinogenesis. Lung cancer cells often show deletions at multiple chromosomal regions, and deletion mapping studies have defined more than 30 regions dispersed on 21 different chromosome arms as candidate tumor suppressor loci. Several chromosomal regions hypermethylated in lung cancer cells and a number of chromosomal fragile sites have been mapped to the regions deleted in lung cancer. These chromosomal loci can harbor unknown tumor suppressor genes inactivated in lung cancer. Studies on the inherited susceptibility to lung cancer in mice have also indicated the presence of additional tumor suppressor genes for lung cancer. Further analyses of these loci should elucidate how many tumor suppressor genes are involved in human lung carcinogenesis. Molecular and functional analyses of those genes will make it possible to fully understand the molecular mechanism of lung carcinogenesis.  (+info)

Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. (2/223)

Cytogenetic investigations were performed in 781 couples prior to intracytoplasmic sperm injection (ICSI) because of severe male infertility or fertilization failures in previous in-vitro fertilization attempts. Out of these 1562 patients, 1012 had a normal karyotype without any aberrations (64.8%), 204 patients had an abnormal karyotypes (13.1%). These chromosome aberrations included constitutional aberrations (4.4%), fragile sites of autosomes (3.0%), low level mosaicism of sex chromosomes (4.0%) and secondary structural chromosome aberrations (4.2%). Combinations of different types of abnormalities were stated. Another 346 patients (22.1%) showed single cell aberrations; the significance of these is unclear at the moment. Constitutional chromosome aberrations were detected in 69 patients. The following chromosome aberrations were observed: 35 sex chromosomal aberrations (comprising hyperploidies of X or Y chromosomes, mosaicisms and derivative X and Y chromosomes), 34 autosomal aberrations including 14 reciprocal translocations, five Robertsonian translocations, six inversions, one marker chromosome, one trisomy 18 mosaicism and seven other structural aberrations. Three autosomal regions showed fragile sites: 6q13 in 2.9% of the patients, 17p12 and 10q24 in 0.05% each. In conclusion, our data show that a high number of infertile couples in an ICSI programme are affected by chromosome aberrations which occur in both sexes. It is suggested that a chromosomal analysis should be performed on both partners before ICSI treatment is initiated.  (+info)

CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae. (3/223)

An expansion to >200 CGG/CCG repeats (hereafter called CGG) in the 5' region of the FMR1 gene causes fragile X syndrome, and this locus becomes a folate-sensitive fragile site. We used Saccharomyces cerevisiae as a model system to study the stability and fragility of CGG repeats. Tracts of (CGG)(81)and (CGG)(160)were integrated onto a yeast chromosome in both orientations relative to the nearest replication origin. Tracts of this length are pre-mutation alleles in humans, with a high probability of expansion in future generations. The CGG tracts in yeast colonies showed a length-dependent instability with longer tracts being more prone to contraction than shorter tracts. In addition, there was an orientation bias for tract stability with tracts having fewer contractions when the CCG strand was the template for lagging strand synthesis. Expansions of the CGG tracts also occurred in an orientation-dependent manner, although at a lower frequency than contractions. To determine whether CGG tracts are fragile sites in yeast, the CGG tracts were flanked by direct repeats, and the rate of recombination between the repeats determined. Strains carrying the (CGG)(160)tract in either orientation had a large increase in their rate of recombination compared with a no-tract control strain. Because this increase was dependent on genes involved in double-strand break repair, recombination was likely to be initiated by CGG tract-induced breakage between the direct repeats. The observation of orientation-dependent instability and orientation-independent fragility suggests that at least some aspects of their underlying mechanisms are different.  (+info)

Chromosomal fragile site FRA16D and DNA instability in cancer. (4/223)

It has been proposed that common aphidicolin-inducible fragile sites, in general, predispose to specific chromosomal breakage associated with deletion, amplification, and/or translocation in certain forms of cancer. Although this appears to be the case for the fragile site FRA3B and may be the case for FRA7G, it is not yet clear whether this association is a general property of this class of fragile site. The major aim of the present study was to determine whether the FRA16D chromosomal fragile site locus has a role to play in predisposing DNA sequences within and adjacent to the fragile site to DNA instability (such as deletion or translocation), which could lead to or be associated with neoplasia. We report the localization of FRA16D within a contig of cloned DNA and demonstrate that this fragile site coincides with a region of homozygous deletion in a gastric adenocarcinoma cell line and is bracketed by translocation breakpoints in multiple myeloma, as reported previously (Chesi, M., et al., Blood, 91: 4457-4463, 1998). Therefore, given similar findings at the FRA3B and FRA7G fragile sites, it is likely that common aphidicolin-inducible fragile sites exhibit the general property of localized DNA instability in cancer cells.  (+info)

A 700-kb physical map of a region of 16q23.2 homozygously deleted in multiple cancers and spanning the common fragile site FRA16D. (5/223)

We have identified a >600-kb region at 16q23.2 that is homozygously deleted from malignant ovarian ascites using representational difference analysis. Overlapping homozygous deletions were also observed in the colon carcinoma cell line HCT116 and a xenograft established from the small cell lung cancer cell line WX330. This region coincides with that described previously by others as showing loss of heterozygosity in prostate and breast cancers (C. Li et al., Genes Chromosomes Cancer, 24: 175-182, 1999; A. Latil et al., Cancer Res., 57: 1058-1062, 1997; K. Driouch et al., Genes Chromosomes Cancer, 19: 185-191, 1997; A. Iida et al., Br. J. Cancer, 75: 264-267, 1997). In addition, the minimally deleted region spans the common fragile site FRA16D. We have constructed a 700-kb physical map encompassing the deleted region. By fluorescence in situ hybridization of aphidicolin-induced metaphase chromosomes, we have preliminary data to suggest that P1-derived bacterial artificial chromosome clones from the contig lie on both sides of FRA16D. This is confirmed by extensive fluorescence in situ hybridization analysis of the region reported in the accompanying article (M. Mangelsdorf et al., Cancer Res., 60: 1683-1689, 2000) and is consistent with an involvement of this common fragile site in the loss of 16q23.2 material in various cancer types. The minimally deleted region of approximately 210 kb has been characterized using our own markers and public domain markers. Eleven distinct expressed sequences mapped to the region, providing a basis for identifying the predicted tumor suppressor gene in this region.  (+info)

Definitive functional evidence for a tumor suppressor gene on human chromosome 7q31.1 neighboring the Fra7G site. (6/223)

We have previously shown that loss of heterozygosity (LOH) on human chromosome (hchr) 7 at q31.1 is common in a variety of tumors of epithelial origin. Frequent LOH of a specific chromosomal marker is indicative of a closely linked tumor suppressor gene (TSG). However, recent reports have also indicated that such a high frequency of LOH could be due to the presence in this region of the second most common aphidicolin-inducible fragile site in the human genome (Fra7G). To address this controversy, we introduced single copies of hchr7 or hchr12 into a highly aggressive human prostate carcinoma cell line (PC3) by microcell-mediated transfer. The tumorigenicity of six clones of PC3/hchr7 hybrids and three clones of PCRhchr12 hybrids, obtained in four separate fusion experiments, were studied in BALB/c nude mice. All but one of the PC3/hchr7 hybrids increased tumor latency by at least twofold, whereas none of the PC3/hchr12 hybrids delayed tumor onset. No differences in the in vitro growth rate were observed among any of the cell lines assayed (parental and hybrids) suggesting that the observed tumor suppression was due to factors other than cell cycle regulation. Deletion mapping of the PC3/hchr7 tumors obtained after reversion to the malignant phenotype revealed a common region of loss centred around 7q31.1, supporting the TSG hypothesis. The smallest commonly deleted region was approximately 1.5 Mb in size and flanked by the markers D7S486 and D7S655.  (+info)

Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. (7/223)

Folate-sensitive fragile sites are associated with the expansion and hypermethylation of CCG-repeats. The fragile site in 11q23.3, FRA11B, has been shown to cause chromosome deletions in vivo, its expression being associated with Jacobsen (11q-) syndrome. However, the majority of Jacobsen deletions are distal to FRA11B and are not related to its expression. To test the hypothesis that other unidentified fragile sites might be located in 11q23.3-24 and may cause these deletions, we have identified and characterised CCG-trinucleotide repeats within a 40 Mb YAC contig spanning distal chromosome 11q. Only eight CCG-repeats were identified within the entire YAC contig (not including FRA11B ), six of which map to the region of 11q23.3-24 that includes Jacobsen deletions. We have previously collated the deletion mapping data of 24 Jacobsen patients with the physical map of chromosome 11q, and accurately localised six breakpoints to short intervals corresponding to individual YAC clones. We now show that in each of these cases, YAC clones found to contain a deletion breakpoint also contain a CCG-repeat. The improved analysis of one of these deletions, together with those of several new Jacobsen cases, further strengthens this association by localising five breakpoints to individual PAC clones containing CCG-repeats. These data provide strong evidence for the non-random clustering of chromosome deletion breakpoints with CCG-repeats, and suggests that they may play an important role in a common mechanism of chromosome breakage.  (+info)

The expression of common fragile sites in peripheral blood lymphocytes of breast and colorectal cancer patients with aphidicolin. (8/223)

The frequency and distribution of aphidicolin induced common fragile sites was evaluated on chromosomes of peripheral blood lymphocytes in 10 breast and 10 colorectal cancer patients, and 10 healthy controls to determine correlation between specific fragile sites and cancer breakpoints. Fifty complete metaphases were screened from each culture and the results were evaluated by Student's t-test. The total number of fragile sites was found as 933 in breast cancer patients, 950 in colorectal cancer patients and 501 in control group. Both the number of aberrations per cell and number of aberrations per damaged cell were significantly higher in the patient groups. These findings indicate that genetic instability in the breast and colorectal cancer patients increased and fragile sites may play a critical role in the pathogenesis of breast and colorectal cancer.  (+info)

Fragile sites are the chromosomal regions that are susceptible to breakage, and their frequency varies among the human population. Based on the frequency of fragile site induction, they are categorized as common and rare fragile sites. Common fragile sites are sensitive to replication stress and often rearranged in cancer. Rare fragile sites are the archetypal trinucleotide repeats. Fragile sites are known to be involved in chromosomal rearrangements in tumors. Human miRNA genes are also present at fragile sites. A better understanding of genes and miRNAs lying in the fragile site regions and their association with disease progression is required. HumCFS is a manually curated database of human chromosomal fragile sites. HumCFS provides useful information on fragile sites such as coordinates on the chromosome, cytoband, their chemical inducers and frequency of fragile site (rare or common), genes and miRNAs lying in fragile sites. Protein coding genes in the fragile sites were identified by mapping the
TY - JOUR. T1 - Deletion of the FHIT gene in neoplastic and invasive cervical lesions is related to high-risk HPV infection but is independent of histopathological features. AU - Butler, David. AU - Collins, Claire. AU - Mabruk, Mohamed. AU - Walsh, Caitriona Barry. AU - Leader, Mary B.. AU - Kay, Elaine W.. PY - 2000. Y1 - 2000. N2 - The fragile histidine triad (FHIT) gene encompasses the common chromosomal fragile site FRA3B. Human papilloma virus (HPV), which is the main aetiological agent in cervical cancers, has been found to be able to integrate its genes into the chromosome 3 fragile site of cultured cells, deleting a piece of DNA which includes the FHIT gene. Eighty-six microdissected archival cervical LLETZ biopsies comprising cases of cervical intraepithelial neoplasia (CIN) I (n=27), CIN3 (n=30) and microinvasive carcinoma (n=29) were evaluated for HPV infection and FHIT gene loss of heterozygosity (LOH). FHIT gene LOH was detected by polymerase chain reaction (PCR) using ...
TY - JOUR. T1 - FRA3B extends over a broad region and contains a spontaneous HPV16 integration site. T2 - Direct evidence for the coincidence of viral integration sites and fragile sites. AU - Wilke, Charles M.. AU - Hall, Bryan K.. AU - Hoge, Ann. AU - Paradee, William. AU - Smith, David I.. AU - Glover, Thomas W.. PY - 1996/2. Y1 - 1996/2. N2 - The common fragile site at 3p14.2 (FRA3B) is the most sensitive site on normal human chromosomes for the formation of gaps and breaks when DNA replication is perturbed by aphidicolin or folate stress. Although rare fragile sites are known to arise through the expansion of CCG repeats, the mechanism responsible for common fragile sites is unknown. Beyond being a basic component of chromosome structure, no biological effects of common fragile sites have been convincingly shown, although suggestions have been made that breakage and recombination at these sites may sometimes be mechanistically involved in deletions observed in many tumors and in ...
If you have a question about this talk, please contact fj246.. Cambridge-based speakers: ( 2×15 mins). Dr. Paul Wijnhoven (AstraZeneca): AZD7648 is a potent and selective DNA -PK inhibitor that enhances the activity of radiation, chemotherapy and Olaparib. Dr Israel Salguero (Gurdon Institute): There is life beyond yH2AX. External Keynote speaker: (40 mins). Prof. Ian Hickson, FRS F MedSci Center for Chromosome Stability, Copenhagen Recombination-dependent completion of DNA replication at fragile site loci. This talk is part of the Replication, Recombination, Repair: 3Rs Seminar Series series.. ...
BioMed Research International is a peer-reviewed, Open Access journal that publishes original research articles, review articles, and clinical studies covering a wide range of subjects in life sciences and medicine. The journal is divided into 55 subject areas.
The fragile gene, encompassing the chromosomal fragile site FRA3B, can be an early target of DNA damage in precancerous cells. can occur in regular lead and cells to regions of metaplasia with minimal FHIT expression. Loss of the next allele can result in complete lack of FHIT manifestation, which can be seen in many dysplastic Read More. ...
We have used recombinant clones derived from microdissection of the fragile X region to characterize breakpoints around the fragile site at Xq27.3. So far, no microdissection markers derived from Xq28 material have been found, thus allowing a rapid screening for clones surrounding the fragile site by their presence in a somatic cell hybrid containing Xq27.2-Xqter. A total of 43 new DNA markers from Xq27 have been sublocalized within this chromosome band. Of these new DNA markers, 5 lie in an interval defined as containing the fragile X region. The saturation of Xq27 with DNA markers by microdissection demonstrates the power of this technique and provides the resources for generating a complete physical map of the region.
In this study, we demonstrated that: (a) WWOX is altered by deletion and/or aberrant expression in 4 of 9 pancreatic cancer cell lines (44%) and 6 of 15 primary pancreatic adenocarcinomas (40%); (b) promoter hypermethylation of WWOX, including −37 position site-specific methylation, is detected in 2 cell lines (22%) and in 2 samples (13%), and treatment with the demethylating agent 5-AZAC elevated significantly WWOX expression in Hs766T; (c) all of the cell lines showed low levels of WWOX expression using real-time reverse transcription-PCR and Western blot, and 6 primary cases (40%) showed a statistically significant reduction in WWOX expression; and (d) transfection with WWOX induced apoptosis and suppressed colony formation in cell lines.. The WWOX gene was identified recently as a tumor suppressor gene at 16q23.3-24.1, a chromosome region that spans the common fragile site FRA16D (8, 9, 10, 11) . Several studies have revealed alterations of WWOX in several types of human cancers (8, 9, 10, ...
The maintenance of genome integrity is critical for the suppression of cancer and premature ageing. Only recently has it become appreciated that DNA replication stress is a crucial driver of genomic instability. The timely progression of replisomes can be disrupted by lesions and secondary structures in the template, by bound proteins and by conflicts with the transcription machinery. A prolonged pause of the replisome then exposes single stranded DNA, which, due to its recombinogenic nature, can lead to genome rearrangements, fragile site expression and cell death. Importantly, some cancers present excessive endogenous levels of replication stress, which can be exploited for their clearance. In this conference, we aim to bring together scientists studying DNA replication and repair, with those interested in how DNA damage can influence cancer and ageing.. Key Sessions. ...
Telomeres and genes encoding 45S ribosomal RNA (rDNA) are frequently located adjacent to each other on eukaryotic chromosomes. Although their primary roles are different, they show striking similarities with respect to their features and additional functions. Both genome domains have remarkably dynamic chromatin structures. Both are hypersensitive to dysfunctional histone chaperones, responding at the genomic and epigenomic levels. Both generate non-coding transcripts that, in addition to their epigenetic roles, may induce gross chromosomal rearrangements. Both give rise to chromosomal fragile sites, as their replication is intrinsically problematic. However, at the same time, both are essential for maintenance of genomic stability and integrity. Here we discuss the structural and functional inter-connectivity of telomeres and rDNA, with a focus on recent results obtained in plants.. ...
Telomeres and genes encoding 45S ribosomal RNA (rDNA) are frequently located adjacent to each other on eukaryotic chromosomes. Although their primary roles are different, they show striking similarities with respect to their features and additional functions. Both genome domains have remarkably dynamic chromatin structures. Both are hypersensitive to dysfunctional histone chaperones, responding at the genomic and epigenomic levels. Both generate non-coding transcripts that, in addition to their epigenetic roles, may induce gross chromosomal rearrangements. Both give rise to chromosomal fragile sites, as their replication is intrinsically problematic. However, at the same time, both are essential for maintenance of genomic stability and integrity. Here we discuss the structural and functional inter-connectivity of telomeres and rDNA, with a focus on recent results obtained in plants.. ...
Collision between the molecular machineries responsible for transcription and replication is an important source of genome instability. Certain transcribed regions known as chromosomal fragile sites...
Complete information for FRA6G gene (Uncategorized), Fragile Site, Aphidicolin Type, Common, Fra(6)(Q15), including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Complete information for FRA10B gene (Uncategorized), Fragile Site, BrdU Type, Rare, Fra(10)(Q25.2), including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Our working hypothesis focuses on the convergence of prosurvival, angiogenesis and motility signals at common pathways in the local tumor microenvironment for t...
THERE GOES THE NEIGHBORHOODS Monday morning came around too soon. We both groaned at six when it was time to get up, eat at commons, and head out for our eight oclock class. No one ever adequately explains why all freshman year classes start so early. All the studies agree that teenagers are mindless zombies …
Rampant city development in the worlds most ecologically fragile region will have disastrous consequences if left unchecked. Beth Walker introduces a new chinadialogue series on urbanisation in the Himalayas.
CL induces DNA modification and irreversible/reversible DNA breakage at gyrase cleavage sites. (A) Probing CL modification and cleavage reversibility. The S fra
P tes, fra ches-r frig r es, pinards - Tout ce que vous devez savoir propos de laliment P tes, fra ches-r frig r es, pinards : Toutes les informations nutritionnelles de P tes, fra ches-r frig r es, pinards
A new study shows that there are regions of non-coding DNA that may have a connection to cancer growth and progression if altered.
The FRA eLibrary contains all the documents that are found throughout the FRA Public Website. Multiple pages on the website may link to the same eLibrary item based on its set of metatdata.. Can I find All FRA Documents in the Library? ...
The FRA eLibrary contains all the documents that are found throughout the FRA Public Website. Multiple pages on the website may link to the same eLibrary item based on its set of metatdata.. Can I find All FRA Documents in the Library? ...
The FRA eLibrary contains all the documents that are found throughout the FRA Public Website. Multiple pages on the website may link to the same eLibrary item based on its set of metatdata.. Can I find All FRA Documents in the Library? ...
Biologisk antropologi, ogs kaldet fysisk antropologi, er betegnelsen for de videnskaber, der besk ftiger sig med mennesket som en biologisk organisme. Faget omfatter studier af menneskets udvikling, det biologiske grundlag for menneskets adf rd samt menneskets anatomiske og genetiske variation. Aber og menneskeaber er menneskets n rmeste nulevende sl gtninge, og viden om deres udvikling, adf rd og kologi inddrages ogs . Biologisk antropologi udnytter tillige unders gelser fra en r kke nabovidenskaber s som ark ologi, etnografi, lingvistik, geologi og kologi.. I unders gelser af menneskets biologiske variation kan indg s vel menneskeskeletter fra forhistorisk og historisk tid som nutidsmennesker. Emnet kan fx v re en sammenligning af geografisk adskilte skeletfund fra den europ iske j ger- og bondestenalder eller en unders gelse af v kst, kropsst rrelse og alderssammens tning i en middelalderbefolkning ud fra skeletfund fra en kirkeg rd. Studier af nulevende befolkninger omhandler ofte unders ...
Vi indsamler aktuelle tilbud fra danske shops sådan at du ikke behøver betale mere end højst nødvendigt. Så kig forbi i dag og spar. ...
INFORMERER Annonseringsdato: Meddelelse nummer: 134 MEDDELELSER FRA NORSK ELEKTROTEKNISK KOMITE IEC-normer og tekniske rapporter CENELEC Europanormer (EN) CENELEC Harmoniseringsdokumenter (HD)
C ). OVERSGT OV ER 0000 AARET 8. EFTER DE FRA ASYLERNE NDKOMNE AARSBERETNNGER SAMMENDRAGEN OG UDGVEN AF DREKTOREN FOR DET CVLE MEDCNALUESEN. CHRSTANA. TRYKT DET STEENSKE BOGTRYKKER. 88. ndholdsfortegnelse.
INFORMERER Annonseringsdato: Meddelelse nummer: 158 MEDDELELSER FRA NORSK ELEKTROTEKNISK KOMITE IEC-normer og tekniske rapporter CENELEC Europanormer (EN) CENELEC Harmoniseringsdokumenter (HD)
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Fingeraftryk Fingeraftryk er baseret på at anvende teksten fra personernes videnskabelige dokumenter til at skabe et indeks med vægtede ord, som definerer de vigtigste emner fra hver enkelt forsker. ...
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Fingeraftryk er baseret på at anvende teksten fra personernes videnskabelige dokumenter til at skabe et indeks med vægtede emneordskoncepter, som definerer de vigtigste emner for hver enkelt forsker ...
Fingeraftryk er baseret på at anvende teksten fra personernes videnskabelige dokumenter til at skabe et indeks med vægtede emneordskoncepter, som definerer de vigtigste emner for hver enkelt forsker ...
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Præparatet viser et eksempel på an kort knogle, (her er valgt en knogle fra fodroden), der er skåret igennem, så man kan da ...
Præparatet viser et eksempel på an kort knogle, (her er valgt en knogle fra fodroden), der er skåret igennem, så man kan da ...
TY - JOUR. T1 - Chromosomal aberrations and common fragile sites in neuroblastoma patients. AU - Vernole, P.. AU - Tedeschi, B.. AU - Pianca, C.. AU - Nicoletti, B.. AU - Riccardi, R.. AU - Melino, G.. PY - 1990. Y1 - 1990. N2 - We analyzed cytogenetically blood cells and bone marrow cells from 20 neuroblastoma patients. Chromosome common fragile sites were induced by aphidicolin in normal peripheral blood lymphocytes. All neuroblastoma patients showed a higher increase of aberrations after aphidicolin treatment as compared to that found in normal controls. In some cases it was possible to correlate the increase of the expression of a specific fragile site, 1p32, with deletions in the same area in bone marrow cells.. AB - We analyzed cytogenetically blood cells and bone marrow cells from 20 neuroblastoma patients. Chromosome common fragile sites were induced by aphidicolin in normal peripheral blood lymphocytes. All neuroblastoma patients showed a higher increase of aberrations after aphidicolin ...
Extant placental mammals are divided into four major clades (Laurasiatheria, Supraprimates, Xenarthra and Afrotheria). Given that Afrotheria is generally thought to root the eutherian tree in phylogenetic analysis of large nuclear gene data sets, the study of the organization of the genomes of afrotherian species provides new insights into the dynamics of mammalian chromosomal evolution. Here we test if there are chromosomal bands with a high tendency to break and reorganize in Afrotheria, and by analyzing the expression of aphidicolin-induced common fragile sites in three afrotherian species, whether these are coincidental with recognized evolutionary breakpoints. We described 29 fragile sites in the aardvark (OAF) genome, 27 in the golden mole (CAS), and 35 in the elephant-shrew (EED) genome. We show that fragile sites are conserved among afrotherian species and these are correlated with evolutionary breakpoints when compared to the human (HSA) genome. Inddition, by computationally scanning the newly
Secreted modular calcium binding protein-1 (Smoc-1) belongs to the BM-40 family which has been implicated with tissue remodeling, angiogenesis and bone mineralization. Besides its anticipated role in embryogenesis, Smoc-1 has been characterized only in a few mammalian species. We made use of the consensus sequence (5 CACCTCTCCACCTGCC 3) of 33.15 repeat loci to explore the buffalo transcriptome and uncovered the Smoc-1 transcript tagged with this repeat. The main objective of this study was to gain an insight into its structural and functional organization, and expressional status of Smoc-1 in water buffalo, Bubalus bubalis. We cloned and characterized the buffalo Smoc-1, including its copy number status, in-vitro protein expression, tissue & age specific transcription/translation, chromosomal mapping and localization to the basement membrane zone. Buffalo Smoc-1 was found to encode a secreted matricellular glycoprotein containing two EF-hand calcium binding motifs homologous to that of BM-40/SPARC
The cancer genome is moulded by the dual processes of somatic mutation and selection. Homozygous deletions in cancer genomes occur over recessive cancer genes, where they can confer selective growth advantage, and over fragile sites, where they are thought to reflect an increased local rate of DNA breakage. However, most homozygous deletions in cancer genomes are unexplained. Here we identified 2,428 somatic homozygous deletions in 746 cancer cell lines. These overlie 11% of protein-coding genes that, therefore, are not mandatory for survival of human cells. We derived structural signatures that distinguish between homozygous deletions over recessive cancer genes and fragile sites. Application to clusters of unexplained homozygous deletions suggests that many are in regions of inherent fragility, whereas a small subset overlies recessive cancer genes. The results illustrate how structural signatures can be used to distinguish between the influences of mutation and selection in cancer genomes. The
Regular annual exams and vaccines are some of the easiest things an animal owner can do to keep their pet healthy. We appreciate concerns related to over-vaccinating, the effects and the efficacy of vaccines. At Common Companion, we vaccinate your animal based on the latest medical evidence and vaccination guidelines. We provide only the vaccinations that are appropriate to your pets lifestyle. If you prefer to measure the protective antibodies of previous vaccines through blood work, we can also provide that service. At Common Companion, simply put, we provide your pet the same care that our personal pets receive and work hard to stay on top of the latest evidence-based medicine.. ...
Braun, M., P., Braun, N., Franz, D., Groß, B., Dreyer, W., Laucht, S., Kragten, S., Parau, L. G., Koch, E., Stiels, D., Schidelko, K., Nekum, S., Walter, C., Romero, J., Kemper, A., Hubatsch, M., Krause, Tl., Bruslund, S., Bruslund, N., Reinke-Beck, M. I., Bauer, A., Kremer, P., Braun, M. S., Sauer-Gürth, H., Michael Wink: Effects of cold winters and roost site stability on population development of non-native Asian ring-necked parakeets (Alexandrinus manillensis) in temperate Central Europe - results of a 16-year census. EJE, 4 (2), 49-55 (2018) ...
Possibilities for how the c-myc proto-oncogene can be amplified in different tumor cells.Vol. 20, Iss. 3, Genome Instability in the Context of ChromatinStructure and Fragile Sites. ...
Possibilities for how the c-myc proto-oncogene can be amplified in different tumor cells.Vol. 20, Iss. 3, Genome Instability in the Context of ChromatinStructure and Fragile Sites. ...
Possibilities for how the c-myc proto-oncogene can be amplified in different tumor cells.Vol. 20, Iss. 3, Genome Instability in the Context of ChromatinStructure and Fragile Sites. ...
Possibilities for how the c-myc proto-oncogene can be amplified in different tumor cells.Vol. 20, Iss. 3, Genome Instability in the Context of ChromatinStructure and Fragile Sites. ...
In Eastwood and another v Magnox Electric plc; McCabe v Cornwall County Council and others, the House of Lords holds that, in cases where psychiatric injury is alleged to have been caused by acts of the employer committed prior to, and separately from the act of dismissal itself, a cause of action will exist at common law for damages.
Chronic inflammation refers to a response by your immune system that sticks around long after an infection, injury, or exposure to a toxin. Well look at common symptoms, its role in various diseases, and the kinds of treatments that are available, from medications to anti-inflammatory diets.
Roylco. 15 real X-rays reveal a detailed look at common breaks. Use on a light table, hold up to a window, or place on white paper. Includes idea guide/fact sheet, which gives …
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Covers following an eating plan for inflammatory bowel disease. Helps you learn more about how to eat so you can manage your symptoms but still get the nutrition you need. Looks at common problem foods.
Check out what Elizabeth Cherevaty will be attending at COMMON THREADS: Post-Infectious Autoimmune Diseases of the Brain Conference
Published: Feb 23rd, 2009. It may have been a cold night, but it was one hot party at Common Grounds Friday night. Hundreds of people showed up to the Seventh Annual Music Law Conferences […]. ...
Billions of locusts are swarming fragile regions around the world, destroying crops and threatening critical food supplies for millions of people.
An article containing a liquid pervious topsheet coated with a lotion composition is disclosed. The lotion composition provides a skin benefit and/or reduces the adherence of BM to the skin of the wearer, thereby improving the case of BM clean up. The lotion composition applied to the article in a nonuniform manner, preferably such there are regions on the articles topsheet that are not coated with lotion.
UN says Kenyan seaport of Mombasa and capital Nairobi are regions most important transit points and have been systematically exploited
Regards to the issue highlighted in the recent ROs email. The FRA to me has two hats. 1. It is a membership organisation that produces a magazine and calendar for the use of its members along with supporting website, forum..... 2. It is a National Committee with delegated powers through its link to UKA/EA to administer fell running in England and offer guidance for the overall management of the sport across the UK. It seems there is a concern that runners who are not FRA members,
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"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ...
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.. *v ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16.[5] ...
2008). "Disabled-1 is a large common fragile site gene, inactivated in multiple cancers". Genes Chromosomes Cancer. 47 (2): 165 ... 2006). "Functional dissection of Reelin signaling by site-directed disruption of Disabled-1 adaptor binding to apolipoprotein E ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... end of HOX4 locus on chromosome 2". Genomics. 10 (1): 43-50. doi:10.1016/0888-7543(91)90482-T. PMID 1675198. McAlpine PJ, Shows ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1". Cytogenetics and Cell ... This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... "Human homeo box-containing genes located at chromosome regions 2q31----2q37 and 12q12----12q13". American Journal of Human ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1". Cytogenetics and Cell ... It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence- ...
"Effect of exogenous E2F-1 on the expression of common chromosome fragile site genes, FHIT and WWOX". Biochem. Biophys. Res. ... Ramos D, Aldaz CM (2007). "WWOX, a chromosomal fragile site gene and its role in cancer". New trends in cancer for the 21st ... Ludes-Meyers JH, Bednarek AK, Popescu NC, Bedford M, Aldaz CM (2004). "WWOX, the common chromosomal fragile site, FRA16D, ... "Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and ...
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635-48. doi:10.1016/ ...
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ...
"CGG-Repeat Expansion in the DIP2B Gene is Associated with the Fragile Site FRA12A on Chromosome 12q13.1". The American Journal ... This gene is located near a folate-sensitive fragile site. Model organisms have been used in the study of DIP2B function. A ... as well as AMP-binding sites. The presence of these sites suggests that DIP2B may participate in DNA methylation. ... A member of the disco-interacting protein homolog 2 protein family, it contains a binding site for the transcriptional ...
Heritable Fragile Site on Chromosome 16: Probable Localization of Haptoglobin Locus in Man by R. Ellen Magenis, Frederick Hecht ... Magenis's first major research project involved a heritable fragile site on the long (q) arm of chromosome 16. She traced this ... 16q fragile site through a multigenerational family and, together with Hecht and Everett Lovrien, she linked the 16q fragile ... Her special interest continues to be in human chromosome mapping. Magenis died on February 4, 2014, after a long illness. Ellen ...
2007). "CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1". Am. J. Hum. ... Gardiner K, Slavov D, Bechtel L, Davisson M (2002). "Annotation of human chromosome 21 for relevance to Down syndrome: gene ...
... s have been associated with chromosome fragile sites and are proximal to a number of recurrent translocation ... Minisatellites are prominent in the centromeres and telomeres of chromosomes, the latter protecting the chromosomes from damage ... which protect the ends of a chromosome from deterioration or from fusion with neighbouring chromosomes. ... In humans, 90% of minisatellites are found at the sub-telomeric region of chromosomes. The human telomere sequence itself is a ...
... investigated genome instability and made significant contributions to knowledge of the involvement of frequent fragile sites in ... They then used a combination of chromosome walking and chromosome hopping or jumping to locate the CF gene, which they named ... each chromosome a child inherits is a mix of the both of that parent's copies of that chromosome. Markers would only be ... Due to the phenomenon of recombination, whereby parts of chromosomes swap homologous segments during germ cell development, ...
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... to human chromosome 17p13.1 by in situ hybridization". Cytogenetics and Cell Genetics. 89 (3-4): 218-9. doi:10.1159/000015617. ...
1992). "Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". ... 2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529-35. doi:10.1038/nature02399. PMID ... "Cloning of six new genes with zinc finger motifs mapping to short and long arms of human acrocentric chromosome 22 (p and q11.2 ...
1992). "Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ...
1992). "Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". ... Gao Y, Kobayashi H, Ganss B (2004). "The human KROX-26/ZNF22 gene is expressed at sites of tooth formation and maps to the ... 1992). "A cluster of expressed zinc finger protein genes in the pericentromeric region of human chromosome 10". Genomics. 13 (3 ... "Twenty-seven nonoverlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering". ...
In the simple crossover model, the two homologous chromosomes overlap on or near a common Chromosomal fragile site (CFS). This ... The net effect of this would be one heterozygous chromosome and one homozygous chromosome. Mitotic crossover is known to occur ... In either model, the chromosomes are not guaranteed to trade evenly, or even to rejoin on opposite sides thus most patterns of ... The resulting phenotype of the daughter cells depends on how the chromosomes line up on the metaphase plate. If the chromatids ...
2005). "Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a ... "Entrez Gene: C10orf4 chromosome 10 open reading frame 4". CS1 maint: discouraged parameter (link) Stelzl U, Worm U, Lalowski M ... This gene is found within the rare FRA10A folate-sensitive fragile site. GRCh38: Ensembl release 89: ENSG00000148690 - Ensembl ...
... gene has been mapped by the method of in situ hybridization to human chromosome bands 9q21.3-q22, a fragile site where ... been identified as a putative tumor suppressor collocates on chromosome 9q21.3-22.1 where was considered to be a fragile site. ... Del Sal G, Collavin L, Ruaro ME, Edomi P, Saccone S, Valle GD, Schneider C (March 1994). "Structure, function, and chromosome ... Del Sal G, Collavin L, Ruaro ME, Edomi P, Saccone S, Valle GD, Schneider C (March 1994). "Structure, function, and chromosome ...
Some chemicals have the ability to induce fragile sites in regions of the chromosome where oncogenes are present, which could ... Regions sensitive to breakage, called fragile sites, may result from genotoxic agents (such as pesticides). ... Also, chromosomes' integrity may be altered through chromosome loss and clastogenic lesions causing multiple gene and ... To further analyze the site of lesion, it was observed that polymerase stopped at the site and adenine was inappropriately ...
FRA3A encoding protein Fragile site, aphidicolin type, common, fra(3)(p24.2). *FRMD4B encoding protein FERM domain containing ... Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 ... "Chromosome 3". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 3". Human Genome Project Information Archive 1990 ... "Chromosome 3: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.. ...
The human gene Chromosome 3 open reading frame 14 is a gene of uncertain function located at 3p14.2 near fragile site FRBA3- ... and the chromosomal fragile site FRBA3. Breakage at this site inactivates FHIT and can lead to the loss of C3orf14. Because ... Four sites of possible phosphorylation have been identified, and at least two sites of phosphorylation are conserved in all ...
that miR-129-1 is located in a fragile site region of the human genome near a specific site, FRA7H in chromosome 7q32, which is ... 2004). "Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers". Proc Natl Acad ... a site commonly deleted in many cancers. miR-129-2 is located in 11p11.2. miR-129 seems to have a tissue specific expression ...
... the French national degree required to be flight attendant in France Chromosomal fragile site, a part of the chromosome prone ...
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... "Home". www.clsf.info.. *^ "Coffin-Lowry Syndrome Foundation". National Institute of Neurological Disorders and Stroke. ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ...
By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... The leaves may be dry and fragile, but not powdery. Good tea should be quite fragrant, even when dry. Good pressed pu'er cakes ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ...
FRT sites have been inserted transgenically near the centromere of each chromosome arm of Drosophila melanogaster. The FLP gene ... Fragile X syndrome. *Uniparental disomy. *XX male syndrome/46,XX testicular disorders of sex development ... "The site of function of the Y chromosome in Drosophila melanogaster males". Molecular and. General Genetics. 165: 221. doi: ... both on chromosomes bearing FRT sites). After induction of FLP expression, cells that undergo recombination will have progeny ...
By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... Although RNA is fragile, some ancient RNAs may have evolved the ability to methylate other RNAs to protect them.[10] ... In eukaryotes, the processing of pre-mRNA and RNA editing take place at sites determined by the base pairing between the target ... The chemical properties of RNA make large RNA molecules inherently fragile, and they can easily be broken down into their ...
By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... "OMIM Entry - # 158170 - CHROMOSOME 9p DELETION SYNDROME". www.omim.org. Retrieved 2017-03-10.. ... Fragile X syndrome. *Uniparental disomy. *XX male syndrome/46,XX testicular disorders of sex development ... of a portion of chromosome 9. Symptoms include microgenitalia, intellectual disability with microcephaly and dysmorphic ...
... intersecting gamma radiation beams are applied directly to the tumor site or vascular malformation site that had been ... A genetic mutation on chromosome 22 has also been associated with another genetic form of the disorder.[1] ... of fragile X syndrome patients have epilepsy, 50% of children with learning disabilities will have some form of epilepsy, 3-10 ...
Reference, Genetics Home. "Jacobsen syndrome". Genetics Home Reference.. *^ "11q deletion syndrome". www.socialstyrelsen.se (in ... European Chromosome 11 Network - Support group for patients with chromosome 11 disorders, their families and relatives ... Fragile X syndrome. *Uniparental disomy. *XX male syndrome/46,XX testicular disorders of sex development ... Ring chromosome 11- in this case genetic material from both long and short arm of the chromosome get deleted, and the remaining ...
"Cerebral Palsy Home , NCBDDD , CDC. Archived from the original on 21 April 2017. Retrieved 2017-04-20.. ... "A gene for ataxic cerebral palsy maps to chromosome 9p12-q12". European Journal of Human Genetics. 8 (4): 267-272. doi:10.1038/ ... Fragile X syndrome (a cause of autism and intellectual disability) and general intellectual disability must also be ruled out.[ ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ...
Chromosome studies[edit]. Chromosome studies are used in the general genetics clinic to determine a cause for developmental ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome. ... Chromosome painting is a technique that uses fluorescent probes specific for each chromosome to differentially label each ...
By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two ... sex chromosomes. In most cases, males with an X-linked form of this condition experience more severe dental abnormalities than ...
By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... Chloroplasts have many similarities with photosynthetic bacteria, including a circular chromosome, prokaryotic-type ribosome, ... "A paradigm of fragile Earth in Priestley's bell jar". Extreme Physiology & Medicine. 1 (1): 4. doi:10.1186/2046-7648-1-4. ISSN ... Embedded within the stroma are stacks of thylakoids (grana), which are the site of photosynthesis. The thylakoids appear as ...
"Tree of Life Web Project. 2002. Retrieved 12 May 2009.. *^ a b c d e f g h i j k l m n o p q r s t u v w x y z Gullan, P.J.; ... Insects are mostly soft bodied, fragile and almost defenseless compared to other, larger lifeforms. The immature stages are ... the offspring's sex is determined by the number of sets of chromosomes an individual receives. This system is typical in bees ... Tree of Life Web Project. 1995. Retrieved 9 May 2009.. *^ Russell Garwood; Gregory Edgecombe (2011). "Early terrestrial animals ...
Chromosomal disorders involve the loss or duplication of larger portions of a chromosome (or an entire chromosome) containing ... Looking at communities that live near landfill sites brings up environmental justice. A vast majority of sites are located near ... Fragile X syndrome. *Uniparental disomy. *XX male syndrome/46,XX testicular disorders of sex development ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ...
"Father Sanchez's Web Site of West Indian Natural History. Archived from the original on 2007-11-27. Retrieved 2007-11-26.. ... Males ordinarily have a ZZ pair of sex determining chromosomes, and females a ZW pair. However, the Colombian Rainbow boa ( ... The fossil record of snakes is relatively poor because snake skeletons are typically small and fragile making fossilization ... Reeder, T. W.; Townsend, T. M.; Mulcahy, D. G.; Noonan, B. P.; Wood, P. L.; Sites, J. W.; Wiens, J. J. (2015). "Integrated ...
Web. 29 Oct. 2011. *^ Fu YH, Ptacek L (29 October 2011). "Research Projects". Fu and Ptacek's Laboratories of Neurogenetics. U ... Advancements were made in but not limited to: Fragile X syndrome, Alzheimer's, Parkinson's, epilepsy and ALS.[6] ... "Genetics Home Reference. NIH. 15 April 2020.. *^ Morton NE (April 1996). "Logarithm of odds (lods) for linkage in complex ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ...
"Kees Uljé Coprinus site. Retrieved 2010-04-14.. *^ Ko KS. (2001). "Phylogeographic divergences of nuclear ITS sequences in ... Chromosome pairing and the lampbrush diplotene stage of meiotic prophase". Chromosoma (Berlin). 29 (3): 305-16. doi:10.1007/ ... fragile, white in the stem, and brownish in the cap.[22] Its odor and taste are not distinctive.[23] Individual fruit bodies ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ...
By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... being a carrier of the fragile X syndrome gene, and radiotherapy.[43] However, in about 50-80% of spontaneous cases of ... the non-recombining portions of the Y chromosome and mitochondrial DNA, show evidence of a prevalence of female-biased ... Empty nest syndrome when children leave home. *The birth of grandchildren, which places people of "middle age" into a new ...
Ring chromosome 18 syndrome. Ring 18 is a genetic condition caused by a deletion of the two tips of chromosome 18 followed by ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... Fragile X syndrome. *Uniparental disomy. *XX male syndrome/46,XX testicular disorders of sex development ... A ring-shaped chromosome is the result. In the case of ring 18, one of the two copies of chromosome 18 has formed a ring. ...
Reference, Genetics Home (December 2014). "Williams syndrome". Genetics Home Reference. Archived from the original on 20 ... The FISH test examines chromosome #7 and probes for the existence of two copies of the elastin gene. Since 98-99% of ... "Conceptualizing neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome". ... CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted from one chromosome in people with ...
A chromosome anomaly involves extra or missing chromosomal material, not changes within the genes such as Fragile X syndrome). ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... The extra chromosome is made up of a piece of chromosome 15 that has been duplicated end-to-end like a mirror image. It is the ... The extra chromosome is occasionally found in the mosaic state, i.e. some of the cells carry the marker chromosome. However, ...
By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... The telomeres at the ends of the chromosomes, thought to be involved in ageing/senescence, consist of repetitive DNA, with the ... notably triplet expansion diseases such as fragile X syndrome and Huntington's disease.[9] Evolutionary changes from ... This is likely due to homologous chromosomes with arms of unequal lengths causing instability during meiosis.[19] ...
The underlying mechanisms involves at least one extra X chromosome in addition to a Y chromosome such that the total chromosome ... "NIH - Genetics Home Reference. NIH. Archived from the original on 30 January 2017. Retrieved 27 January 2017.. ... The differential diagnosis for KS can include fragile X syndrome, Kallmann syndrome, and Marfan syndrome. The cause of ... In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as X ...
By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... However, females have highly fragile horns; some are even hornless.[7][15] Grant's gazelle is very similar to Thomson's gazelle ... Effron, M.; Bogart, M. H.; Kumamoto, A. T.; Benirschke, K. (1976). "Chromosome studies in the mammalian subfamily Antilopinae ...
Websites[edit]. *. Cole, Theodor C.H.; Hilger, Harmut H.; Stevens, Peter F. (2017). "Angiosperm Phylogeny Poster - Flowering ... A key event during meiosis in a diploid cell is the pairing of homologous chromosomes and homologous recombination (the ... Although many such mutualistic relationships remain too fragile to survive competition and to spread widely, flowering proved ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ...
We will explore chromosome specific cases in the chromosome specific section.. *Type of chromosome abnormality: The factor that ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... Fragile X syndrome. *Uniparental disomy. *XX male syndrome/46,XX testicular disorders of sex development ... Specific chromosomes: The influence of CPM on fetal growth is chromosome specific. Certain chromosomes carry imprinted genes ...
Many of these transcribed ultraconserved sites that exhibit distinct signatures in cancer are found at fragile sites and ... The expression of Xist from the future inactive X-chromosome, and its subsequent coating of the inactive X-chromosome, occurs ... lincRNA homepage of the Rinn Lab Hangauer, Matthew J.; Vaughn, Ian W.; McManus, Michael T.; Rinn, John L. (20 June 2013). " ... The inactivation of a X-chromosome in female placental mammals is directed by one of the earliest and best characterized long ...
"The Fragile Male." British Medical Journal (2000): n. pag. British Medical Journal. Web. 20 Oct. 2013. ... As the X chromosome is larger (i.e. has more DNA) than the Y chromosome, the "female" (X-chromosome bearing) spermatozoa will ... As the X chromosome is larger (i.e. has more DNA) than the Y chromosome, the "female" (X-chromosome bearing) spermatozoa will ... Both of them are based on actively rendering the second sex chromosome to be either a Y chromosome (resulting in a male), or an ...
Rs6259, also called Asp327Asn location 7633209 on Chromosome 17, results in there being an extra N-glycosilation site, and so ... and fragile X mental retardation, autosomal homolog 2 (FXR2) on the complimentary strand.[13] There are eight exons, of which ... The gene for SHBG is called Shbg located on chromosome 17[11] on the short arm between the bands 17p12→p13.[12] Overlapping on ... Other sites that produce SHBG include the brain, uterus, testes, and placenta.[11] Testes-produced SHBG is called androgen- ...
Citations may include links to full-text content from PubMed Central and publisher web sites. ... The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in ... A 200-300 kb region of chromosome 3p14.2, including the fragile site locus FRA3B, is homozygously deleted in multiple tumor- ... and exon 5 within the homozygously deleted fragile region. Aberrant transcripts of the FHIT locus were found in approximately ...
"Chromosome Fragile Sites" by people in this website by year, and whether "Chromosome Fragile Sites" was a major or minor topic ... FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X ... followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g ... "Chromosome Fragile Sites" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ...
This site is a major chromosome fragile site that can be induced by methotrexate and aphidicolin treatments. Pretreatments of ... Chromosome breakage at a major fragile site associated with P-glycoprotein gene amplification in multidrug-resistant CHO cells. ... Chromosome breakage at a major fragile site associated with P-glycoprotein gene amplification in multidrug-resistant CHO cells. ... Chromosome breakage at a major fragile site associated with P-glycoprotein gene amplification in multidrug-resistant CHO cells. ...
Based on the frequency of fragile site induction, they are categorized as common and rare fragile sites. Common fragile sites ... Rare fragile sites are the archetypal trinucleotide repeats. Fragile sites are known to be involved in chromosomal ... Human miRNA genes are also present at fragile sites. A better understanding of genes and miRNAs lying in the fragile site ... Protein coding genes in the fragile sites were identified by mapping the coordinates of fragile sites with human genome Ensembl ...
All diploids contain fragile site FS2 on the MS71-derived homolog of chromosome III. Both experimental diploids are homozygous ... Models of repair by homologous recombination at yeast fragile site FS2. (A) The right arm of one homolog of yeast chromosome ... Gene conversions are stimulated by instability at fragile site FS2 during S phase. The MS71-derived homolog of chromosome III ... indicates a restriction site exists, ● indicates lack of the site. Numbers are the approximate chromosome coordinate in kb. On ...
Folate sensitive and BrdU dependent fragile sites on human chromosomes. Indian Journal of Experimental Biology. 1988 Mar; 26(3 ...
Chromosome fragile sites. . Annu. Rev. Genet. 41, 169-192 (2007).. **CAS*PubMed*Article*Google Scholar*27.. Zhang, H. & ... An AT-rich sequence in human common fragile site FRA16D causes fork stalling and chromosome breakage in S. cerevisiae. . Mol. ... ATR regulates fragile site stability. . Cell 111, 779-789 (2002).. **CAS*PubMed*Article*Google Scholar*24.. Benjamini, Y. & ... Systematic identification of fragile sites via genome-wide location analysis of gamma-H2AX. . Nat. Struct. Mol. Biol. 17, 299- ...
Fragile Sites on Human Chromosomes. Oxford Monographs on Medical Genetics. Vol. 13. New York, NY: Oxford University Press; 1985 ... Diagnosis of the fragile X syndrome (Martin-Bell syndrome). Clinical findings in 27 males with the fragile site at Xq28. J Ment ... X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. J Pediatr. 1980;96(5):837-841pmid:7189210. ... Fragile X Clinical and Research Consortium. FXS - fragile X syndrome. GER - gastroesophageal reflux. GI - gastrointestinal. ID ...
FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X ... followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g ... Chromosome Fragile Sites. Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a ... Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs. ...
Effect of exogenous E2F-1 on the expression of common chromosome fragile site genes, FHIT and WWOX. In: Biochemical and ... Effect of exogenous E2F-1 on the expression of common chromosome fragile site genes, FHIT and WWOX. / Ishii, Hideshi; Mimori, ... Effect of exogenous E2F-1 on the expression of common chromosome fragile site genes, FHIT and WWOX. Biochemical and Biophysical ... Fingerprint Dive into the research topics of Effect of exogenous E2F-1 on the expression of common chromosome fragile site ...
Common fragile sites as targets for chromosome rearrangements. . DNA Repair (Amst.) 5, 1126-1135 (2006) ... ATR regulates fragile site stability. . Cell 111, 779-789 (2002). **CAS*PubMed*Article*Google Scholar*34.. Arlt, M. F., Durkin ... Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication. . Cell 138, 90-103 (2009) ... Chromosome Res. 13, 505-515 (2005). **CAS*PubMed*Article*Google Scholar*40.. Mayshar, Y. et al. Identification and ...
... no fragile sites were found on the single X chromosome of normal males. Preferential transmission of the maternal fragile X to ... Folate-sensitive fragile sites have been demonstrated on the X chromosome of the Indian mole rat, Nesokia indica (subfamily ... Folate-sensitive fragile sites on the X-chromosome heterochromatin of the Indian mole rat, Nesokia indica ... In individuals that did not reproduce in the laboratory, there were more fragile sites on both X chromosomes of the females ( ...
Folate sensitive and BrdU dependent fragile sites on human chromosomes. Folate sensitive and BrdU dependent fragile sites on ... Chromosome Fragile Sites / Folic Acid Language: English Journal: Indian J Exp Biol Year: 1988 Type: Article ... Chromosome Fragile Sites / Folic Acid Language: English Journal: Indian J Exp Biol Year: 1988 Type: Article ... Full text: Available Index: IMSEAR (South-East Asia) Main subject: Bromodeoxyuridine / Humans / Chromosome Fragility / ...
Fragile site FS2 and the marker gene, whether SUP4-o or ADE2, are on the right arm of chromosome III. SNP 298,875 is the most ... The fragile site FS2 on yeast chromosome III is unstable in cells with low levels of DNA Pol1p, the catalytic subunit of ... in human tumors are strongly correlated with common fragile sites, but the role of gene conversion in LOH at fragile sites in ... All diploids contain fragile site FS2 on the MS71-derived homolog of chromosome III. Both experimental diploids are homozygous ...
In Renpennings syndrome, there is no fragile site on the X chromosome. Renpennings cases have short stature, moderate ... "marker X chromosome" in association with mental disability.[3] In 1970 Frederick Hecht coined the term "fragile site". ... There are four generally accepted states of the chromosome region involved in Fragile X syndrome which relate to the length of ... Fragile X syndrome (FXS), or Martin-Bell syndrome, is a genetic syndrome which results in a spectrum of characteristic physical ...
Citations may include links to full-text content from PubMed Central and publisher web sites. ... The Detection and Analysis of Chromosome Fragile Sites.. Bjerregaard VA, Özer Ö, Hickson ID, Liu Y. ... RECQ5 Helicase Cooperates with MUS81 Endonuclease in Processing Stalled Replication Forks at Common Fragile Sites during ... Pathways for maintenance of telomeres and common fragile sites during DNA replication stress. ...
Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites. Pages 489-526. Feng, Wenyi (et al.) ... JavaScript is currently disabled, this site works much better if you enable JavaScript in your browser. ... Interaction of Rif1 Protein with G-Quadruplex in Control of Chromosome Transactions ...
Chromosome Fragile Sites / genetics * Chromosome Mapping * Chromosomes / genetics * Chromosomes / metabolism * Comparative ... We show that loci affected by CFS-like deletions are often distinct from known common fragile sites. Indeed, we find that each ... Further analyses suggest instead that these are sites of increased genomic instability and that they resemble common fragile ... and dispersal throughout the affected locus rather than assembly at a common site of overlap. Additionally, CFS-like deletions ...
Brainscape is a web and mobile study platform that helps you learn things faster. Our mission is to create a smarter world by ... Translocation chromosome derived from chromosome 1 and containing the centromere of chromosome 1 ... Translocation chromosome derived from chromosome 1 and containing the centromere of chromosome 1 ... Translocation chromosome containing centromeres from both the X and the Y chromosomes ...
FRA3A encoding protein Fragile site, aphidicolin type, common, fra(3)(p24.2). *FRMD4B encoding protein FERM domain containing ... Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 ... "Chromosome 3". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 3". Human Genome Project Information Archive 1990 ... "Chromosome 3: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.. ...
Genes Chromosomes Cancer. 2019; 58(5):284-294 [PubMed] Related Publications Common fragile sites (cFSs) represent parts of the ... The FRA14B common fragile site maps to a region prone to somatic and germline rearrangements within the large GPHN gene.. ... Genes Chromosomes Cancer. 2001; 32(3):212-21 [PubMed] Related Publications We report a novel MLL-associated chromosome ... Home] Page last revised: 31 August, 2019 Cancer Genetics Web, Established 1999 ...
This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The ... Fragile Sites, Trinucleotide Repeat Expansion, and the Fragile X Syndrome. Pages 295-308 ... This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The ... Download Product Flyer Request Instructor Sample on Partner Site macmillanihe.com Download High-Resolution Cover ...
Mechanisms involved in mitotic chromosome segregation and chromosome imbalance, translocations, and fragile sites ... Role of DNA fragile sites, which are regions of the chromosome that are prone to breakage and are hotspots for translocations ... Role of nonconventional DNA structures in generating fragile sites. Emerging research areas include understanding the role of ... An emerging area of interest is the role that chromosome translocations play in driving tumorigenesis and cancer progression. ...
fragile site. 13. readthrough. 9. region. 1. unknown. 25. virus integration site. 1. ... Click on a chromosome below to see a statistics & download page for the chosen chromosome. The table below contains the number ... The old file format can still be found on our FTP site and will continue to be updated in the short term. If you use the old ... Site maintained by the External Services team at EMBL-EBI , Terms of Use , Privacy , Cookies ...
fragile site. 6. readthrough. 2. region. 2. unknown. 18. Total Approved Symbols. 1848. ... Click on a chromosome below to see a statistics & download page for the chosen chromosome. The table below contains the number ... The old file format can still be found on our FTP site and will continue to be updated in the short term. If you use the old ... Site maintained by the External Services team at EMBL-EBI , Terms of Use , Privacy , Cookies ...
... have identified the ion channel known as Kv1.2 as a new target for reducing certain Fragile X syndrome (FXS) symptoms ... Molecular guardians monitor chromosomes during cell division 09/28/2018 Genetics and Birth Defects ... FXS is caused when there are low levels of the Fragile Mental Retardation Protein (FMRP), which is a type of protein that is ... The research identifies Kv1.2 as an entirely new molecular site that can be targeted by drugs or gene therapy in the future and ...
fragile sites. Fragile X syndrome, 2nd most common cause of mental retardation. carrier of fragile X gene and pass it on to ... actual site of protein synthesis. dipoid cells. chromosomes appear in pairs. (23 pairs or 46 chromosomes in the nucleus of each ... Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page. Normal ... sex chromosome aneuploidy. Turner, Klinefelter, 47,XYY. clastogen. extent of chromosome breakage is increased with presence of ...
Genome-wide high-resolution mapping of chromosome fragile sites in Saccharomyces cerevisiae Wei Song, Margaret Dominska, ... Site-specific genetic engineering of the Anopheles gambiae Y chromosome Federica Bernardini, Roberto Galizi, Miriam Menichelli ... Genetic degeneration of old and young Y chromosomes in the flowering plant Rumex hastatulus Josh Hough, Jesse D. Hollister, Wei ...
The PRKN gene spans part of a region on chromosome 6 known as FRA6E. This region is known as a fragile area because it is ... Alterations in the common fragile site gene Parkin in ovarian and other cancers. Oncogene. 2003 Nov 13;22(51):8370-8. Citation ... Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section ... MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our ...
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia ... This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ...
  • Research on DNA and chromosome aberrations focuses on cancer genetics and epigenetics. (cancer.gov)
  • Research in this area is supported and directed by the DNA and Chromosome Aberrations Branch (DCAB) . (cancer.gov)
  • Taken together, such changes are called chromosome mutations or chromosome aberrations, to distinguish them from gene mutations. (slideserve.com)
  • Because, according to Mendelian laws, the chromosome is the unit of genetic transmission, chromosome aberrations are passed on to offspring in a predictable manner, resulting in many unique genetic outcomes. (slideserve.com)
  • G-Banding analysis (Human samples only) to identify chromosome number as well as chromosome aberrations including translocations, insertions, deletions or duplications in cells. (roswellpark.org)
  • This DNA damage can be in the form of single- and double-strand breaks, loss of excision repair, cross-linking, alkali-labile sites, point mutations, and structural and numerical chromosomal aberrations. (wikipedia.org)
  • The researchers concluded from testing that when metabolically activated, "PAs produce DNA adducts, DNA cross-linking, DNA breaks, sister chromatid exchange, micronuclei, chromosomal aberrations, gene mutations, and chromosome mutations in vivo and in vitro . (wikipedia.org)
  • 1984. Nonrandom distribution of methotrexate-induced aberrations on human chromosomes. (koreascience.or.kr)
  • These sites are associated with an increase in CHROMOSOME FRAGILITY. (umassmed.edu)
  • Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair. (duke.edu)
  • Is mammalian chromosome evolution driven by region of genome fragility. (koreascience.or.kr)
  • Cell-type-specific replication initiation programs set fragility of the FRA3B fragile site," Nature , vol. 470, no. 7332, pp. 120-123, 2011. (hindawi.com)
  • Next, the mechanism underlying chromosome fragility at RSZs was investigated by examining the contribution of various chromosomal processes to break formation at these sites. (bl.uk)
  • The findings presented in this study further our understanding of RSZs and the molecular bases governing their fragility, providing some insight into the mechanism of fragile site instability in mammals. (bl.uk)
  • Replication stress causes breaks at chromosomal locations called common fragile sites. (genetics.org)
  • Deletions causing loss of heterozygosity (LOH) in human tumors are strongly correlated with common fragile sites, but the role of gene conversion in LOH at fragile sites in tumors is less well studied. (genetics.org)
  • The high abundance and long length of noncrossover, bidirectional gene-conversion tracts suggests that dBIR is a prominent mechanism for repair of lesions at FS2, thus this mechanism is likely to be a driver of common fragile site-stimulated LOH in human tumors. (genetics.org)
  • The alterations at human common fragile sites in cancer cells are proposed to result from the processes of DNA repair at these sites. (genetics.org)
  • Further analyses suggest instead that these are sites of increased genomic instability and that they resemble common fragile sites (CFS). (nih.gov)
  • We show that loci affected by CFS-like deletions are often distinct from known common fragile sites. (nih.gov)
  • The FRA14B common fragile site maps to a region prone to somatic and germline rearrangements within the large GPHN gene. (cancerindex.org)
  • Common fragile sites (cFSs) represent parts of the normal chromosome structure susceptible to breakage under replication stress. (cancerindex.org)
  • Common fragile sites are considered part of normal chromosome structure and are present in all (or nearly all) individuals in a population. (wikipedia.org)
  • Under normal conditions, most common fragile sites are not prone to spontaneous breaks. (wikipedia.org)
  • Common fragile sites are of interest in cancer studies because they are frequently affected in cancer and they can be found in healthy individuals. (wikipedia.org)
  • Unlike RFSs, common fragile sites (CFSs) are not the result of nucleotide repeat expansion mutations. (wikipedia.org)
  • The high incidence (3.6%) of common fragile sites expression (7q11, 2q21, 3p14) were also noticed after addition of 5-azacytidine. (indmedica.com)
  • The studies of "common fragile sites" are very difficult because of low frequency of metaphase present in cell population [1,3]. (indmedica.com)
  • T. W. Glover, C. Berger, J. Coyle, and B. Echo, "DNA polymerase α inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes," Human Genetics , vol. 67, no. 2, pp. 136-142, 1984. (hindawi.com)
  • Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: implications for the mechanism of fragile site induction," Human Molecular Genetics , vol. 7, no. 4, pp. 755-761, 1998. (hindawi.com)
  • Perturbed replication induced genome wide or at common fragile sites is differently managed in the absence of WRN," Carcinogenesis , vol. 33, pp. 1655-1663, 2012. (hindawi.com)
  • Mammalian common fragile sites are the best-characterised, naturally occurring breakage-prone regions and are deleted or rearranged in many tumour cells. (bl.uk)
  • Interestingly, inhibition of ATR, the mammalian homologue of Mec1, also leads to chromosome instability at common fragile sites, suggesting that the mechanism by which endogenous DSBs are generated is conserved between yeast and mammals. (bl.uk)
  • This study aims to enhance our current understanding of common fragile sites using yeast RSZs as a model. (bl.uk)
  • First, RSZs were characterised in terms of chromosomal features and determinants in order to identify similarities between RSZs and mammalian common fragile sites and to assess whether yeast RSZs as a suitable system for studying common fragile sites in more complex organisms. (bl.uk)
  • An emerging area of interest is the role that chromosome translocations play in driving tumorigenesis and cancer progression. (cancer.gov)
  • Most of the aneuploid regions were the result of translocations, including three instances of a shared breakpoint on chromosome 14 immediately adjacent to CIT1 , which encodes the citrate synthase that performs a key regulated step in the tricarboxylic acid cycle. (pnas.org)
  • These rearrangements include previously reported gene-local amplifications, changes in chromosome copy number, and intrachromosomal and interchromosomal translocations. (pnas.org)
  • Among the most common are translocations (top panel, left side) which may be reciprocal (a swap of chromosome material between non-homologous chromosomes) or Robertsonian (a fusion of two acrocentric chromosomes). (bmj.com)
  • Stable expression of core protein induced frequent chromosome translocations in cultured cells and in transgenic mice. (jimmunol.org)
  • Chromosomal translocations in yeast induced by low levels of DNA polymerase: a model for chromosome fragile sites. (duke.edu)
  • In variant translocations 3 and possibly more chromosomes are involved. (biomedsearch.com)
  • Chromosome rearrangements such as translocations and deletions are frequently associated with human cancers. (bl.uk)
  • 1 , 2 It results from an expansion mutation of a CGG repeat sequence in the first exon of the FMR1 gene, leading to transcriptional silencing of the gene and absence or significant reduction of the gene product, fragile X mental retardation protein. (aappublications.org)
  • The syndrome is associated with the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome , and results in a failure to express the protein coded by the FMR1 gene, which is required for normal neural development. (princeton.edu)
  • FXS is caused when there are low levels of the Fragile Mental Retardation Protein (FMRP), which is a type of protein that is essential for cognitive development. (healthcanal.com)
  • This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16 . (wikipedia.org)
  • S2 is primary site for low MW protein resorption and S3 is primary site for P450. (slideserve.com)
  • The fragile histidine triad (FHIT) protein is a member of the large and ubiquitous histidine triad (HIT) family of proteins. (rcsb.org)
  • The syndrome is associated with de novo deletion or mutation and haploinsufficiency of the retinoic acid-induced 1 protein on chromosome 17p11.2. (icd10data.com)
  • The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. (genecards.org)
  • The presence of these sites suggests that the encoded protein may participate in DNA methylation. (genecards.org)
  • SMC1 (Structural Maintenance of Chromosomes protein 1), well known as one of the SMC superfamily members, has been explored to function in many activities including chromosome dynamics, cell cycle checkpoint, DNA damage repair and genome stability. (ijbs.com)
  • The PR domain zinc finger protein 9 (PRDM9) is thought to be a transregulator of meiotic recombination hotspots in humans and mice, and the hotspot sequence motifs may serve as binding sites for this protein [ 7 ]. (biomedcentral.com)
  • Fragile X syndrome is caused by a gene mutation in the X chromosome that interferes in the production of a protein called fragile X mental retardation protein (FMRP). (massagemag.com)
  • I will also assess whether a protein known to recognize and bind to spots of DNA damage can protect dividing B cells from genomic rearrangements at these sites-work that could point toward novel therapies for cancers that develop in the cells of the immune system. (pewtrusts.org)
  • The symptoms of fragile-X syndrome result from the complete or partial loss of a protein known as FMRP (fragile-X mental retardation protein). (britannica.com)
  • Treatments under development for fragile-X syndrome include gene therapy and protein-replacement therapy. (britannica.com)
  • Mutation of the FMR1 gene leads to the transcriptional silencing of the fragile X-mental retardation protein, FMRP . (bionity.com)
  • It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME. (umassmed.edu)
  • Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known single-gene cause of autism spectrum disorder. (aappublications.org)
  • Fragile X syndrome (FXS) is the most common inherited form of intellectual disability (ID). (aappublications.org)
  • This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 25 years. (bioportfolio.com)
  • It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME. (bioportfolio.com)
  • The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. (bioportfolio.com)
  • Fragile X syndrome (FXS), or Martin-Bell syndrome , is a genetic syndrome which results in a spectrum of characteristic physical and intellectual limitations and emotional and behavioral features which range from severe to mild in manifestation. (princeton.edu)
  • In Renpenning's syndrome, there is no fragile site on the X chromosome. (princeton.edu)
  • Escalante's syndrome is synonymous with the fragile X syndrome. (princeton.edu)
  • Researchers at The Hospital for Sick Children (SickKids) have identified the ion channel known as Kv1.2 as a new target for reducing certain Fragile X syndrome (FXS) symptoms. (healthcanal.com)
  • Clinically, the most important rare fragile site is FRAXA, which is associated with the fragile X syndrome, the most common cause of hereditary intellectual disability. (wikipedia.org)
  • The FRAXA site is perhaps most famous for its role in Fragile X syndrome, but fragile sites are clinically implicated in many other important diseases, such as cancer. (wikipedia.org)
  • For example, breakage at or near the FRA11b locus has been implicated in Jacobsen syndrome, which is characterized by loss of part of the long arm of chromosome 11 accompanied by mild mental retardation. (wikipedia.org)
  • fibromyalgia chronic syndrome that is characterized by musculoskeletal pain, often at multiple anatomical sites, that occurs in the absence of an identifiable physical or physiological cause. (britannica.com)
  • A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. (icd10data.com)
  • The best known pathological example of this is a marker of the fragile X syndrome at Xq27.3. (bmj.com)
  • I am very keen to get in contact with parents with children who have Fragile X syndrome. (netmums.com)
  • The gene that causes fragile x syndrome is on the X chromosome site and shows as a a "fragile" site. (netmums.com)
  • Infant and child development support through IDP / AIDP and/or SCD / ASCD - Infants with Fragile X syndrome in British Columbia, Canada will be first referred to the Infant Development Program, IDP , or Aboriginal Infant Development Program, AIDP . (ubc.ca)
  • Researchers at Northwestern University recently set out to explore why people with fragile X syndrome, a genetic defect that is the best-known cause of autism and inherited mental retardation, recoil from hugs and physical touch, even from their parents. (massagemag.com)
  • They found in fragile X syndrome there is delayed development of the sensory cortex, the part of the brain that responds to touch, according to a university press release. (massagemag.com)
  • Fragile-X syndrome , a chromosomal disorder associated with a fragile site on the end of the X chromosome . (britannica.com)
  • The male who receives the fragile-X chromosome will be affected by the syndrome, which is thought to be one of the major causes of intellectual disability in males. (britannica.com)
  • The genetic defect underlying the syndrome occurs in a gene known as FMR1 (fragile-X mental retardation 1), which is located in the fragile site of the X chromosome and encodes FMRP. (britannica.com)
  • There is no cure for fragile-X syndrome. (britannica.com)
  • Fragile X syndrome is a syndrome of X-linked mental retardation . (bionity.com)
  • Females who have one fragile chromosome and one normal X chromosome may range from normal to mild manifestations of the fragile X syndrome. (bionity.com)
  • The fragile X syndrome has an estimated incidence of 1 in 3600 males and 1 in 4,000-6,000 females. (bionity.com)
  • [3] In 1970 Frederick Hecht coined the term "fragile site" (Renpenning's syndrome is not synonymous with the Martin-Bell (fragile X) syndrome). (bionity.com)
  • The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome . (bionity.com)
  • In people with the fragile X syndrome, the FMR1 allele has over 230 repeats of this codon. (bionity.com)
  • This methylation of the FMR1 locus in chromosome band Xq27.3 is believed to result in constriction of the X chromosome which appears 'fragile' under the microscope at that point, a phenomenon that gave the syndrome its name. (bionity.com)
  • The diagram (right) of X-linked recessive inheritance is not entirely inappropriate but it markedly oversimplifies the situation and does not provide a sufficient foundation for genetic counseling about the fragile X syndrome. (bionity.com)
  • Technically, fragile X syndrome is an X-linked dominant condition with reduced penetrance. (bionity.com)
  • They are intellectually disabled and may show various physical features of the fragile X syndrome. (bionity.com)
  • Daughters who receive the fragile X may appear normal or they may be intellectually disabled, usually to a lesser degree than boys with the syndrome. (bionity.com)
  • Fragile X syndrome is the most common form of inherited mental retardation . (encyclopedia.com)
  • Fragile X syndrome is also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome. (encyclopedia.com)
  • Fragile X syndrome is caused by a mutation in the FMR-1 gene, located on the X chromosome . (encyclopedia.com)
  • In order to understand fragile X syndrome it is important to understand how human genes and chromosomes influence this condition. (encyclopedia.com)
  • Fragile X syndrome affects males and females of all ethnic groups. (encyclopedia.com)
  • It is estimated that there are about one in 4,000 to one in 6,250 males affected with fragile X syndrome. (encyclopedia.com)
  • There are approximately one-half as many females with fragile X syndrome as there are males. (encyclopedia.com)
  • People who carry a premutation do not usually have symptoms of fragile X syndrome, although there have been reports of individuals with a premutation and subtle intellectual or behavioral symptoms. (encyclopedia.com)
  • however, premutation carriers may exist through several generations of a family and no symptoms of fragile X syndrome will appear. (encyclopedia.com)
  • Individuals who carry the full mutation may have fragile X syndrome. (encyclopedia.com)
  • Another unique aspect of fragile X syndrome is that mosaicism is present in 15-20% those affected by the condition. (encyclopedia.com)
  • People who have repeats in this range do not have fragile X syndrome and are not at increased risk to have children with fragile X syndrome. (encyclopedia.com)
  • Fragile X syndrome is inherited in an X-linked dominant manner (characters are transmitted by genes on the X chromosome). (encyclopedia.com)
  • The expression of two tumor suppressor genes, fragile histidine triad (FHIT) and WW domain containing oxidoreductase (WWOX), encompassing common chromosome fragile regions, FRA3B at 3p14.2 and FRA16D at 16q23, is altered in many epithelial tumors. (elsevier.com)
  • Genome-wide analysis revealed properties of CFS-like recurrent deletions that distinguish them from deletions affecting tumor suppressor genes, including their isolation at specific loci away from other genomic deletion sites, a considerably smaller deletion size, and dispersal throughout the affected locus rather than assembly at a common site of overlap. (nih.gov)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikipedia.org)
  • The following is a partial list of genes on human chromosome 3. (wikipedia.org)
  • Genes Chromosomes Cancer. (cancerindex.org)
  • Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. (wikipedia.org)
  • This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. (wikipedia.org)
  • High frequency of deletions at breakpoints within these fragile sites has been associated with many cancers, including breast, lung, and gastric cancers (for review, see ) MicroRNA genes, which are preferentially involved in chromosomal alterations, are frequently located at fragile sites. (wikipedia.org)
  • Nine KOX zinc finger genes were localized on four human chromosomes by in situ hybridization of cDNA probes to metaphase chromosomes. (springer.com)
  • Six other KOX genes were localized on chromosome 19: KOX6 (ZNF14) and KOX13 (ZNF20) to 19p13.3-p13.2, KOX5 (ZNF13) and KOX22 (ZNF27) to 19q13.2-qter, and KOX24 (ZNF28) and KOX28 (ZNF30) to 19q13.4. (springer.com)
  • Pulsed field gel electrophoresis experiments showed that the pairs of KOX genes found on the chromosome bands 12q24.33, 16q22-q23, 19p13.3-p13.2, or 19q13.3-qter lie within 200-300 kb DNA fragments. (springer.com)
  • Aubry M, Marineau C, Zhang FR, Zahed L, Figlewicz D, Delattre O, Thomas G, Jong P de, Julien JP, Rouleau GA (1992) Cloning of six new genes with zinc fingers motifs mapping to short and long arms of human acrocentric chromosomes 22 (p and q11.2). (springer.com)
  • Since the nucleolus is a major site of RNA processing and ribonucleoprotein assembly, nucleoli are targeted by viruses, directly when viral RNA and proteins enter the nucleolus and indirectly when viruses induce increased expression of cellular polyamine genes. (frontiersin.org)
  • Modifications include a change in the total number of chromosomes, and changes of chromosomal structures, the deletion or duplication of genes or segments of a chromosome, and rearrangements of the genetic material either within or among chromosomes. (slideserve.com)
  • Loss of heterozygosity (LOH) of alleles on chromosome 10 has been reported in many cancers, leading to the identification of tumor suppressor genes on this chromosome. (aacrjournals.org)
  • Furthermore, the location and identity of the putative tumor suppressor genes on this chromosome that contribute to meningioma progression are unknown because the currently characterized tumor suppressor genes do not appear to be involved. (aacrjournals.org)
  • Therefore, this study was undertaken to ( a ) assess the frequency and complexity of LOH in meningioma progression, ( b ) map the LOH patterns of individual meningiomas to define the smallest regions of shared chromosomal deletion, and ( c ) compare the identified regions with chromosome 10 deletions in other cancers, and thereby initiate the localization of the putative tumor suppressor genes. (aacrjournals.org)
  • These results delineate chromosomal locations of putative tumor suppressor genes on chromosome 10 that likely play an early role in meningioma tumorigenesis as well as tumor progression. (aacrjournals.org)
  • Previous work has attributed Y chromosome loss to the lesser importance of genes it carries. (uta.edu)
  • Some diseases, such as hemophilia, are associated only with genes on the sex chromosomes. (uta.edu)
  • In that process, any important genes move from the Y to another chromosome and sex determination takes a different route. (uta.edu)
  • Some scientists have even theorized that the human Y chromosome only has about another 10 million years before all genes on the Y chromosome will be lost. (uta.edu)
  • The translocation leads to fusion of the proto-oncogene Abelson (ABL) and a particular DNA sequence known as breakpoint cluster region (BCR), thereby giving rise to 2 new chimeric genes 5' ABL-3' BCR on the derivative chromosome 9 and 5' BCR-3' ABL on the derivative chromosome 22. (biomedsearch.com)
  • In this context, we investigated the contribution of ribosomal genes to genome reshuffling since they are generally located in pericentromeric or subtelomeric regions, and form repeat clusters on different chromosomes. (biomedcentral.com)
  • Homologous recombination and nonhomologous end-joining repair pathways regulate fragile site stability," Genes and Development , vol. 19, no. 22, pp. 2715-2726, 2005. (hindawi.com)
  • TRAIP drives replisome disassembly and mitotic DNA repair synthesis at sites of incomplete DNA replication. (nih.gov)
  • A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break when the cell is exposed to partial replication stress. (wikipedia.org)
  • Late-replication may be a result of formation of non-B DNA structures like hairpins and toroids that stall the replication fork in AT rich regions, analogous to the proposed mechanism of rare fragile site instability. (wikipedia.org)
  • Certain transcribed regions known as chromosomal fragile sites are particularly prone to recombine and mutate in a manner that correlates with specific transcription and replication patterns. (springer.com)
  • Although frequently considered as independent systems or events, in recent years it has become clear that three of the most fundamental processes that support chromosome integrity and cell proliferation - DNA replication, repair, and recombination - are highly interconnected. (keystonesymposia.org)
  • Identification of an origin of bidirectional DNA replication in mammalian chromosomes. (currentprotocols.com)
  • Genome‐scale analysis of metazoan replication origins reveals their organization in specific but flexible sites defined by conserved features. (currentprotocols.com)
  • Fragile - sites are non ran-dom distributed loci on chromosomes which are prone to form breaks/gaps at metaphase stage of cell-division un-der specific culture conditions that either inhibit DNA replication or facilicitate repair mechanism. (indmedica.com)
  • Break-induced replication of the invaded chromosome results in a duplication of the sequence (shown as a triangle) initially present in one copy. (g3journal.org)
  • Genome accessibility and nuclear/chromosome structure and recombination -Matrix attachment sites (MARS) -nucleosomes, histone 1 -recombination hotspots -fragile sites -origins of replication 3. (bio.net)
  • This vigorous cellular replication comes with a price: When DNA is copied at a rapid pace to produce large numbers of cells, it is at risk of accruing damage, including the sorts of chromosome breaks and rearrangements that may trigger the development of lymphomas. (pewtrusts.org)
  • One example of a yeast fragile site is the replication slow zone (RSZ), so called because the rate of replication fork progression through these regions is slow compared to other regions within the same chromosome. (bl.uk)
  • Inactivation of the essential checkpoint kinase, Mec1, in mec1-ts mutants results in replication fork stalling followed by chromosome breakage at RSZs. (bl.uk)
  • These include: (i) replication fork restart processes (ii) spindle force, (iii) chromosome condensation and decatenation, (iv) chromosome segregation, and (v) cytokinesis. (bl.uk)
  • It is significant that their location corresponds to the regions where constitutive heterochromatic deletions occur that result in a variety of polymorphic X chromosomes in natural populations of Nesokia. (ias.ac.in)
  • Three strains had extensive overlapping deletions of the right arm of chromosome 15. (pnas.org)
  • These deletions on chromosome 10 are shared with other cancer types. (aacrjournals.org)
  • Deletions (bottom panel, far left) and duplications (bottom panel, second left) are structural rearrangements causing loss or gain, respectively, of part of a chromosome. (bmj.com)
  • After chromosome segregation in mitosis, the light pink cell remains heterozygous at all SNPs, while the red cell is homozygous for the YJM789 form of all SNPs distal to the invasion site. (genetics.org)
  • The SMC proteins were initially identified through genetic studies of chromosome segregation in Saccharomyces cerevisiae [ 13 ]. (ijbs.com)
  • Chromosome 3 is one of the 23 pairs of chromosomes in humans . (wikipedia.org)
  • Humans have two copies of chromosome 1, as they do with all of the autosomes , which are the non- sex chromosomes . (wikipedia.org)
  • A UT Arlington research team says their study of genetic information from more than 4,000 beetle species has yielded a new theory about why some species lose their Y chromosome and others, such as humans, hang on to it. (uta.edu)
  • Many species, including humans, have spaces on the X and Y chromosomes where the two chromosomes recombine or mingle. (uta.edu)
  • As a member of a subfamily chromosome-associated proteins known as SMCs (Structural Maintenance of Chromosomes), which are highly conserved from bacteria to humans, SMC1 is a core component of the cohesin complex that is required for sister chromatid cohesion [ 1 - 3 ]. (ijbs.com)
  • The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers. (nih.gov)
  • The FHIT locus is composed of ten exons distributed over at least 500 kb, with three 5' untranslated exons centromeric to the renal carcinoma-associated 3p14.2 breakpoint, the remaining exons telomeric to this translocation breakpoint, and exon 5 within the homozygously deleted fragile region. (nih.gov)
  • Since DNA sequence search shows that the FHIT gene has the E2F-1 recognition site in 5 ′ region, which regulates cell cycle, we tested the effect of E2F-1 overexpression in tumor cells. (elsevier.com)
  • Reporter assay showed that the E2F-1 site in FHIT 5 ′ region was involved in the down-stream transcription after exogenous E2F-1 introduction. (elsevier.com)
  • Chromatin immunoprecipitation detected exogenous E2F-1 binding to the recognition site in FHIT 5 ′ region. (elsevier.com)
  • Sites FRA3B (harboring the FHIT gene) and FRA16D (harboring the WWOX gene) are two well known examples and have been a major focus of research. (wikipedia.org)
  • The role of fragile histidine triad ( fhit ) gene in the etiology of cancer is a relatively recent area of research. (scialert.net)
  • suggesting that the alteration of the fhit gene through damage to the associated fragile region by carcinogens may contribute in a large part to the pathophysiology of cancer. (scialert.net)
  • The FHIT gene, which spans the FRA3B fragile site at chromosome 3p14.2, is a candidate tumor suppressor gene in breast and other cancers. (atcc.org)
  • Fragile gene product, Fhit, in oxidative and replicative stress responses. (curehunter.com)
  • Restoration of fragile histidine triad (FHIT) expression induces apoptosis and suppresses tumorigenicity in breast cancer cell lines. (curehunter.com)
  • Restoration of fragile histidine triad (FHIT) expression induces apoptosis and suppresses tumorigenicity in lung and cervical cancer cell lines. (curehunter.com)
  • A 200-300 kb region of chromosome 3p14.2, including the fragile site locus FRA3B, is homozygously deleted in multiple tumor-derived cell lines. (nih.gov)
  • Cancer-specific chromosome alterations in the constitutive fragile region FRA3B," Proceedings of the National Academy of Sciences of the United States of America , vol. 96, no. 13, pp. 7456-7461, 1999. (hindawi.com)
  • Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. (umassmed.edu)
  • (14) , using two chromosome 10p markers ( D10S674 and D10S89 ) and four chromosome 10q markers ( ZNF22, D10S676, D10S677 , and D10S169 ), found LOH for combined 10q loci in 3 of 56 (5.4%) benign, 4 of 10 (40%) atypical, and 5 of 9 (55.6%) malignant meningiomas. (aacrjournals.org)
  • However, it is difficult to assess the frequency or complexity of LOH occurring in the different grades by comparing the chromosome 10 LOH data in these reports because different loci were used, and the results for individual loci were not always reported separately. (aacrjournals.org)
  • Furthermore, because meningiomas do not tend to lose the entire chromosome 10 (17) , as is the case with the majority of astrocytic gliomas (18) , detailed LOH studies may well be useful in defining candidate tumor suppressor loci. (aacrjournals.org)
  • The silenced HML and HMR loci are located 10 and 20 kb from the telomeres on chromosome III. (rupress.org)
  • Our data provide evidence of a strong association of the chromosome 1p12 with thyroid cancer risk, and it is the first study describing susceptibility loci for thyroid cancer in this region. (aacrjournals.org)
  • Huebner K, Druck T, Croce CM, Thiesen HJ (1991) Twenty seven non overlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering. (springer.com)
  • Transmission electron micrographs of whole metaphase chromosomes isolated from Chinese Hamster Ovary (CHO) cells showing the characteristic paired chromatids and centromeric constrictions. (cellimagelibrary.org)
  • The work begins with a look at historical themes, such as the analysis of metaphase chromosomes using microscopy and staining techniques, advances in which provided our first broad glimpse into the genetic anatomy of a malignant cell. (wisepress.com)
  • Example of human chromosome labeling and identification using multi-color fluorescence in situ hybridization (FISH) with probes specific for the DNA of individual chromosomes. (cellimagelibrary.org)
  • Fluorescence in situ hybridization (FISH) of chromosome spreads and interphase nuclei of lymphoblastoid cell of higher primates using probes specific to individual chromosomes. (cellimagelibrary.org)
  • Structural (large scale abnormalities in genomic sequence of individual chromosomes). (bmj.com)
  • Identification of individual chromosomes pairs by Giemsa banding in Lohi sheep. (koreascience.or.kr)
  • Objective: The Philadelphia (Ph) chromosome, consisting of the t(9;22)(q34;q11) translocation, is observed in--90% of patients with chronic myeloid leukemia (CML). (biomedsearch.com)
  • High rates of "unselected" aneuploidy and chromosome rearrangements in tel1 mec1 haploid yeast strains. (duke.edu)
  • Fluorescence in situ hybridization (FISH) with whole-chromosome paints and BCR-ABL 1D probes were used to confirm and/or complement the findings, and identify rearrangements beyond the resolution of conventional cytogenetic methods. (biomedsearch.com)
  • i) rDNA clusters showed extensive diversity in number between species and an almost exclusive pericentromeric location, ii) a strong association between rDNA sites and centromeres was retrieved which may be related to their shared constraint of concerted evolution, iii) 24% of the observed breakpoints mapped near an rDNA cluster, and iv) a substantial rate of rDNA cluster change (insertion, deletion) also occurred in the absence of chromosomal rearrangements. (biomedcentral.com)
  • In particular, the identification of syntenic associations of homologous chromosomal segments has led to the delimitation of breakpoint sites, i.e., regions where genome synteny has been disrupted by chromosomal rearrangements. (biomedcentral.com)
  • Each of these conditions is a variation on the normal diploid number of chromosomes. (slideserve.com)
  • This volume collates world experts' insights into the molecular biology of cancer chromosomes, their abnormalities and the subsequent cellular consequences. (wisepress.com)
  • Chromosomal instabilities are commonly a consequence of chromosomal or chromosome segment abnormalities resulting in DNA copy number changes (CNCs) that occur during in tumor progression. (medsci.org)
  • Chromosome abnormalities in domestic sheep. (koreascience.or.kr)
  • The explosion of information on human genetic diseases has meant that there is a greater need than ever for students, practising physicians, laboratory technicians, and researchers to have a concise, up-to-date summary of the normal and abnormal behavior of chromosomes. (springer.com)
  • These structures represent chromosomes that are missing the genetic material beyond that centromere. (slideserve.com)
  • isochromosome which is a chromosome that contains the same genetic material on both arms. (slideserve.com)
  • They believe the size of an area where X and Y genetic information mingle or recombine can serve as a strong clue that a species is at risk of losing the Y chromosome during sperm production. (uta.edu)
  • Traditionally, scientists have explained the loss by saying that the Y chromosome must not contain enough important genetic information and so it is dispensable. (uta.edu)
  • Our daugther was referred to community paediatrician and with a genetic blood test diagnosed her with fragile x. (netmums.com)
  • These chromosomes consist of genetic material (DNA) needed for the production of proteins, which lead to growth, development, and physical/intellectual characteristics. (encyclopedia.com)
  • To date, more than 120 fragile sites have been identified in the human genome. (wikipedia.org)
  • It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project . (wikipedia.org)
  • We also develop novel methods using NextGen sequencing to identify chromosome fragile sites in the human genome. (upstate.edu)
  • Recently, the human genome sequence has enabled higher resolution screens for chromosome anomalies using both molecular cytogenetic and array based techniques. (bmj.com)
  • IMSEAR at SEARO: Folate sensitive and BrdU dependent fragile sites on human chromosomes. (who.int)
  • Rao, S. R. V. (1987) Folate-sensitive fragile sites on the X-chromosome heterochromatin of the Indian mole rat, Nesokia indica Cytogenetics and Cell Genetics, 44 (1). (ias.ac.in)
  • Folate-sensitive fragile sites have been demonstrated on the X chromosome of the Indian mole rat, Nesokia indica (subfamily Murinae), utilizing peripheral blood lymphocyte cultures. (ias.ac.in)
  • Rare fragile sites (RFSs) are classified into two sub-groups based on the compounds that elicit breakage: folate-sensitive groups (for examples, see ), and nonfolate-sensitive groups, which are induced by bromodeoxyuridine (BrdU) or distamycin A, an antibiotic that preferentially binds to AT-pairs of DNA. (wikipedia.org)
  • This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. (genecards.org)
  • An investigation to determine frequency and distribution of folate sensitive chromosomal fragile sites was carried out in a Pakistani breed of Lohi sheep to uncover fragile site phenomena. (koreascience.or.kr)
  • Rare, folate-sensitive fragile sites are the result of the unstable expansion of trinucleotide p(CCG)n repeats, which are normally polymorphic in copy number. (edu.au)
  • Our data demonstrate a high level of reuse of breakpoints among muroid rodents, further supporting the "Fragile Breakage Model" of chromosome evolution. (deepdyve.com)
  • Inversions (top panel, right side) are where the normal order of genomic material within a chromosome is altered by the abnormal repair of chromosomal breakpoints (block arrows and dotted lines). (bmj.com)
  • Both of these genomic structures coincide with breakpoints in the genus Mus , suggesting that the accumulation of a large number of repeats in the centromeric region may contribute to the high level of chromosome repatterning observed in this group. (biomedcentral.com)
  • This book continues to fulfill that need, and is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects. (springer.com)
  • The research identifies Kv1.2 as an entirely new molecular site that can be targeted by drugs or gene therapy in the future and the findings indicate the possibility of DHA being recommended for improving select FXS symptoms. (healthcanal.com)
  • Chromosome evolution in wild oat grasses (Aveneae) revealed by molecular phylogeny. (semanticscholar.org)
  • Investigation of chromosomal fragile associate sites, cytogenic and molecular characterization of malignant tumors, chromosome imprinting, investigation of chromosomal anomalies, clinical applications of FISH. (upstate.edu)
  • Molecular basis for expression of common and rare fragile sites," Molecular and Cellular Biology , vol. 23, no. 20, pp. 7143-7151, 2003. (hindawi.com)
  • 3 copies of ONE chromosome-trisomy-can survive. (studystack.com)
  • trisomy chromosome 21, often caused by nondisjunction of mother's egg. (studystack.com)
  • This region is known as a fragile area because it is unstable and prone to breakage and rearrangement. (medlineplus.gov)
  • I will stimulate the rapid division of B cells and identify the "fragile sites" within the genome that are prone to breaks and rearrangement. (pewtrusts.org)
  • Because males normally have only one copy of the X chromosome, those males with significant trinucleotide expansion at the FMR1 locus are symptomatic. (bionity.com)
  • At the same time, these chromosomal fragile sites engage in aberrant DNA structures in mitosis. (springer.com)
  • Chromosome 3 spans almost 200 million base pairs (the building material of DNA ) and represents about 6.5 percent of the total DNA in cells . (wikipedia.org)
  • In this study, we fine mapped the location of FRA14B and showed that the fragile region spans 765 kb at 14q23.3, containing the large gephyrin (GPHN) gene. (cancerindex.org)
  • The PRKN gene spans part of a region on chromosome 6 known as FRA6E. (medlineplus.gov)
  • Chromosome 1 spans about 249 million nucleotide base pairs , which are the basic units of information for DNA . (wikipedia.org)
  • 1995. Identifying chromosomal fragile sites from individuals: a multinomial statistical model. (koreascience.or.kr)
  • 1995. FSM version 995 an MSDOS program for the statistical identification of chromosomal fragile sites, User's Guide. (koreascience.or.kr)
  • These observations suggest that chromosome fragile sites play a pivotal role in DNA amplification in mammalian cells. (asm.org)
  • The analyses suggest that chromosome breakage within RSZs requires the actions of the evolutionarily conserved type II topoisomerase and condensin complex. (bl.uk)
  • For detailed information regarding each characterized fragile site, please visit HumCFS: a database of fragile sites in human chromosomes, published in BMC Genomics. (wikipedia.org)
  • Nucleolar expansion due to abnormal increases in polyamines could disrupt nearby chromatin, such as the inactive X chromosome, leading to expression of previously sequestered DNA. (frontiersin.org)
  • In the hypothesis it was proposed that enlargement of the nucleolus in response to cellular stress could disrupt neighboring chromatin, such as the inactive X chromosome. (frontiersin.org)
  • In addition to these conditions, more than one pair of homologous chromosomes may be involved. (slideserve.com)
  • a double tetrasomic contains an extra pair of two pairs of homologous chromosomes (2N+2+2). (slideserve.com)
  • Additionally, the Hepatitis B virus (HBV) and HPV-16 virus, the strain of human papilloma virus most likely to produce cancer, appear to integrate preferentially in or around fragile sites, and it has been proposed that this is crucial to the development of tumors. (wikipedia.org)
  • Contributions feature numerous colour tables and illustrations and this volume will provide a basis for understanding cancer chromosomes for many years to come. (wisepress.com)
  • Identification of the expression profile of apoptotic esophageal cancer cells by adenoviral-fragile histidine triad treatment. (curehunter.com)
  • Our previous studies suggest that the chromosome 1p12-13 is related to thyroid cancer incidence. (aacrjournals.org)
  • In a previous study, we have reported that the chromosome 1p12-13is related to thyroid cancer susceptibility ( 13 ). (aacrjournals.org)
  • Chromosome breakage at a major fragile site associated with P-glycoprotein gene amplification in multidrug-resistant CHO cells. (asm.org)
  • These observations underscore the importance of chromosome breakage in the initiation of DNA amplification in mammalian cells. (asm.org)
  • Here, we propose that the site of chromosome breakage consistent with the initial event of P-glycoprotein (P-gp) gene amplification via the breakage-fusion-bridge cycle in three independently established multidrug-resistant CHO cells was located at 1q31. (asm.org)
  • one member of each chromosome pair-23 chromosomes, gamate cells-sperm and egg cells. (studystack.com)
  • The mitotic checkpoint prevents a eukaryotic cell from commencing to separate its replicated genome into two daughter cells (anaphase) until all of its chromosomes are properly aligned on the metaphase plate, with the two copies of each chromosome attached to opposite poles of the mitotic spindle. (biomedsearch.com)
  • Spectral karyotyping (SKY) to identify chromosomes or chromosomal segments that are structurally and numerically altered in cells. (roswellpark.org)
  • In addition, there are some species where there is no pseudoautosomal region and special proteins shepherd the X and Y chromosome on their way to the sperm cells. (uta.edu)
  • When chromosomes break, cells must repair them to avoid becoming abnormal, cancerous or dead. (prolekare.cz)
  • Changes in chromosome dynamics during the early steps that create the single strands have not been analysed owing to lack of tools allowing analysis of this process in individual living cells. (prolekare.cz)
  • The mitotic checkpoint is also curious in the sense that, before metaphase alignment, chromosomes that are not being pulled in opposite directions by the mitotic spindle activate the checkpoint, but during anaphase, these same tensionless chromosomes can no longer activate the checkpoint. (biomedsearch.com)
  • MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. (cancerindex.org)
  • This analysis revealed a high level of chromosome breakpoint conservation between Rattus and Peromyscus and indicated that the chromosomes of Mus are highly derived. (deepdyve.com)
  • However, the mechanism by which fragile sites influence reproductive performance is unclear. (ias.ac.in)
  • We hypothesize that the underlying mechanism for mutagenesis induced by fragile motifs involves the formation of long single-stranded regions in the broken chromosome, invasion of the undamaged sister chromatid for repair, and faulty DNA synthesis employing Polζ. (prolekare.cz)
  • The most accurate repair mechanism is based on homologous recombination (HR), in which single strands generated next to the break seek an intact replica which is copied into the broken site. (prolekare.cz)
  • Fragile Breakage Model' ' of chromosome evolution. (deepdyve.com)
  • O'Neill, R. 2009-12-22 00:00:00 Multiple Genome Rearrangement (MGR) analysis was used to define the trajectory and pattern of chromosome rearrangement within muroid rodents. (deepdyve.com)
  • chromosome rearrangement within muroid rodents. (deepdyve.com)
  • Such rearrangement of the chromosome can be initiated by a DNA break (DSB) that, when inappropriately repaired, may alter chromosome structure. (bl.uk)
  • Transmission electron micrograph showing part of a decondensed mitotic chromosome. (cellimagelibrary.org)
  • MGR was applied using 107 chromosome homologies between Mus, Rattus, Peromyscus, the muroid sister taxon Cricetulus griseus, and Sciurus carolinensis as a non-Muroidea outgroup, with specific attention paid to breakpoint reuse and centromere evolution. (deepdyve.com)
  • Azzalin CM, Reichenbach P, Khoriauli L, Giulotto E, Lingner J (2007) Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends. (springer.com)
  • The physical mapping of three abundant tandemly repeated DNA sequences, CON1, CON2, and COM2, and the distributional pattern of AT- and GC-rich regions in the chromosomes of 32 species of the grass family Poaceae have been established by means of fluorescence in situ hybridization and fluorochrome banding with chromomycin and DAPI. (semanticscholar.org)
  • Thus there is a correlation between fragile sites, deletion sites, and karyotypic changes. (ias.ac.in)
  • Deletion of the short arm of chromosome 17. (icd10data.com)
  • Aneuploidy: the loss or the gain of one or more of normal set chromosomes. (slideserve.com)
  • For example, chromosome nondisjunction or reduced recombination may result in constitutive aneuploidy, which can lead to spontaneous abortion or congenital birth defects. (biomedcentral.com)
  • Chromosome instability syndromes. (nih.gov)
  • Harper ME, Saunders GF (1981) Localization of single copy DNA sequences on G-based human chromosomes by in situ hybridization. (springer.com)
  • Zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. (springer.com)
  • Functional repetitive sequences and fragile sites in chromosomes of Lolium perenne L. (semanticscholar.org)
  • In human, Y-chromosome consists of both euchromatin and heterochromatin [1] The chromosome science plays a significant role in diagnostic as well as in basic research. (indmedica.com)
  • Here, we investigated gene conversion stimulated by instability at fragile site FS2 in the yeast Saccharomyces cerevisiae . (genetics.org)
  • Nondisjunction occurs when paired chromosomes do not separate either during meiosis I or meiosis II. (slideserve.com)
  • oncogenes and fragile sites. (biomedsearch.com)
  • The relative expression levels of the viral oncogenes and their corresponding gene products appear to be directly influenced by the sequence context of individual integration sites. (aacrjournals.org)