Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
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.)
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
RED BLOOD CELL sensitivity to change in OSMOTIC PRESSURE. When exposed to a hypotonic concentration of sodium in a solution, red cells take in more water, swell until the capacity of the cell membrane is exceeded, and burst.
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.
The susceptibility of CAPILLARIES, under conditions of increased stress, to leakage.
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 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 human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) 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.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
Proteins that specifically bind to IRON.
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
Facilities for collecting and organizing information. They may be specialized by subject field, type of source material, persons served, location, or type of services.
Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).
A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
A center in the HEALTH RESOURCES ADMINISTRATION Division of Planning Methods and Technology which provides access to current information on health planning and resources development.
Facilities which provide information concerning poisons and treatment of poisoning in emergencies.
Services providing pharmaceutic and therapeutic drug information and consultation.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.
The use of statistical methods in the analysis of a body of literature to reveal the historical development of subject fields and patterns of authorship, publication, and use. Formerly called statistical bibliography. (from The ALA Glossary of Library and Information Science, 1983)
Tumors or cancer of the THYROID GLAND.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
A malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. (Stedman, 25th ed)
Surgical removal of the thyroid gland. (Dorland, 28th ed)
Tumors or cancer of the COLON.
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
A complex of related glycopeptide antibiotics from Streptomyces verticillus consisting of bleomycin A2 and B2. It inhibits DNA metabolism and is used as an antineoplastic, especially for solid tumors.
Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes.
A process in which normal lung tissues are progressively replaced by FIBROBLASTS and COLLAGEN causing an irreversible loss of the ability to transfer oxygen into the bloodstream via PULMONARY ALVEOLI. Patients show progressive DYSPNEA finally resulting in death.
White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.
A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.
The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.
A lipoprotein-associated PHOSPHOLIPASE A2 which modulates the action of PLATELET ACTIVATING FACTOR by hydrolyzing the SN-2 ester bond to yield the biologically inactive lyso-platelet-activating factor. It has specificity for phospholipid substrates with short-chain residues at the SN-2 position, but inactive against long-chain phospholipids. Deficiency in this enzyme is associated with many diseases including ASTHMA, and HYPERCHOLESTEROLEMIA.
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.
Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
A strain of mice arising from a spontaneous MUTATION (mdx) in inbred C57BL mice. This mutation is X chromosome-linked and produces viable homozygous animals that lack the muscle protein DYSTROPHIN, have high serum levels of muscle ENZYMES, and possess histological lesions similar to human MUSCULAR DYSTROPHY. The histological features, linkage, and map position of mdx make these mice a worthy animal model of DUCHENNE MUSCULAR DYSTROPHY.
Chairs mounted on wheels and designed to be propelled by the occupant.
An autosomally-encoded 376-kDa cytoskeletal protein that is similar in structure and function to DYSTROPHIN. It is a ubiquitously-expressed protein that plays a role in anchoring the CYTOSKELETON to the PLASMA MEMBRANE.

A possible involvement of aberrant expression of the FHIT gene in the carcinogenesis of squamous cell carcinoma of the uterine cervix. (1/224)

To investigate involvement of an aberrant expression of the FHIT (fragile histidine triad) gene in the process of carcinogenesis and progression in cervical carcinoma, we examined its expression by the reverse transcriptase polymerase chain reaction (RT-PCR) and cDNA sequence method in 32 cervical invasive carcinomas (25 squamous cell carcinomas and seven adeno- or adenosquamous carcinomas) and 18 of its precursor lesions [four low-grade and 14 high-grade cervical intraepithelial neoplasias (CINs)]. We also examined a link between the occurrence of the aberrant expression and human papillomavirus (HPV). We detected the aberrant FHIT transcripts in 11 of 25 (44%) cervical invasive squamous cell carcinomas and in 5 of 14 (36%) high-grade CINs (CIN 2 or 3), whereas they were not found in seven non-squamous type and four low-grade CINs (CIN 1). The alteration patterns of the FHIT gene expression in high-grade CINs were virtually similar to those found in invasive carcinomas, such that the exons 5-7 were consistently deleted associated or unassociated with loss of the exon 4 and/or 8. The incidence of the aberrant expression was not related to the presence of HPV and its type. These data indicate that the aberrant expression of the FHIT gene is observed in precursor lesions of cervical carcinoma as well as invasive carcinomas, with its incidence not increasing with advance of clinical stage. Given the squamous cell type dominant expression, the aberrant expression may play a critical role in the generation of squamous cell carcinoma of the uterine cervix, but not the consequence of the progression of the cancer.  (+info)

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome. (2/224)

The nail patella syndrome (NPS1) is an autosomal dominant disorder characterised by dysplasia of the finger nails and skeletal abnormalities. NPS1 has been mapped to 9q34, to a 1 cM interval between D9S315 and the adenylate kinase gene (AK1). We have mapped the breakpoints within the candidate NPS1 region in two unrelated patients with balanced translocations. One patient [46,XY,t(1;9)(q32.1;q34)] was detected during a systematic survey of old cytogenetic files in Denmark and southern Sweden. The other patient [46,XY,t(9;17)(q34.1;q25)] was reported previously. D9S315 and AK1 were used to isolate YACs, from which endclones were used to isolate PACs. Two overlapping PAC clones span the 9q34 breakpoints in both patients, suggesting that NPS1 is caused by haploinsufficiency due to truncation or otherwise inactivation of a gene at or in the vicinity of the breakpoints.  (+info)

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). (3/224)

The most common etiology for Prader-Willi syndrome and Angelman syndrome is de novo interstitial deletion of chromosome 15q11-q13. Deletions and other recurrent rearrangements of this region involve four common 'hotspots' for breakage, termed breakpoints 1-4 (BP1-BP4). Construction of an approximately 4 Mb YAC contig of this region identified multiple sequence tagged sites (STSs) present at both BP2 and BP3, suggestive of a genomic duplication event. Interphase FISH studies demonstrated three to five copies on 15q11-q13, one copy on 16p11.1-p11.2 and one copy on 15q24 in normal controls, while analysis on two Class I deletion patients showed loss of approximately three signals at 15q11-q13 on one homolog. Multiple FISH signals were also observed at regions orthologous to both human chromosomes 15 and 16 in non-human primates, including Old World monkeys, suggesting that duplication of this region may have occurred approximately 20 million years ago. A BAC/PAC contig for the duplicated genomic segment (duplicon) demonstrated a size of approximately 400 kb. Surprisingly, the duplicon was found to contain at least seven different expressed sequence tags representing multiple genes/pseudogenes. Sequence comparison of STSs amplified from YAC clones uniquely mapped to BP2 or BP3 showed two different copies of the duplicon within BP3, while BP2 comprised a single copy. The orientation of BP2 and BP3 are inverted relative to each other, whereas the two copies within BP3 are in tandem. The presence of large duplicated segments on chromosome 15q11-q13 provides a mechanism for homologous unequal recombination events that may mediate the frequent rearrangements observed for this chromosome.  (+info)

Role of FHIT in human cancer. (4/224)

Through investigation of hemizygous and homozygous deletions in common human cancers, including lung cancer, we have cloned and characterized a gene at chromosome region 3p14.2, FHIT, that is inactivated in epithelial tumors, particularly in tumors resulting from exposure to environmental carcinogens. In some tumors, particularly those associated with environmental carcinogens, alterations in the FHIT gene occur quite early in the development of cancer. In other cancers, Fhit inactivation seems to be a later event, possibly associated with progression to more aggressive neoplasias. Thus, detection of Fhit expression by immunohistochemistry in premalignant and malignant tissues may provide important diagnostic and prognostic information.  (+info)

Absence of chromosomal instability in spermatozoa of men affected by testicular cancer. (5/224)

Testicular germ cell cancer affects mainly young men. It is the most frequent type of cancer in 20-35 year old men. Since cancer treatment using antineoplasic drugs and ionizing radiation has a negative effect on the function of the gonads, testicular cancer patients are offered the opportunity to cryopreserve their semen samples before the beginning of therapy. For this reason it would be of interest to know whether there is chromosome instability in their spermatozoa prior to any treatment. Using the interspecific human-hamster fertilization system, we have analysed a total of 340 chromosome complements from spermatozoa of control donors and 320 chromosome complements from testicular cancer patients. There were no significant differences in the frequencies of chromosomal aberrations between controls and cancer patients (9.7 and 10.3% respectively; P = 0.4921). Our results indicate that spermatozoa from untreated testicular cancer patients do not show an increased chromosomal instability as compared to control donors.  (+info)

Cancer-specific chromosome alterations in the constitutive fragile region FRA3B. (6/224)

We have sequenced 870 kilobases of the FHIT/FRA3B locus, from FHIT intron 3 to intron 7. The locus is AT rich (61.5%) and Alu poor (6. 2%), and it apparently does not harbor other genes. In a detailed analysis of the 308-kilobase region between FHIT exon 5 and the telomeric end of intron 3, a region known to encompass a human papillomavirus-16 integration site and two clusters of aphidicolin-induced chromosome 3p14.2 breakpoints, we have precisely mapped 10 deletion and translocation endpoints in cancer-derived cell lines relative to positions of specific repetitive elements, regions of high genome flexibility and aphidicolin-induced breakpoints. Conclusions are (i) that aphidicolin-induced breakpoint clusters fall close to high-flexibility sequences, suggesting that these sequences contribute directly to aphidicolin-induced fragility; (ii) that 9 of the 10 FHIT allelic deletions in cancer cell lines resulted in loss of exons, with 7 deletion endpoints near long interspersed nuclear elements or long terminal repeat elements; and (iii) that cancer-specific deletions encompass multiple high-flexibility genomic regions, suggesting that fragile breaks may occur at these regions, whereas repair of the breaks involves homologous pairing of flanking sequences with concomitant deletion of the damaged fragile sequence.  (+info)

How many tumor suppressor genes are involved in human lung carcinogenesis? (7/224)

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)

A novel region of deletion on chromosome 6q23.3 spanning less than 500 Kb in high grade invasive epithelial ovarian cancer. (8/224)

Detailed deletion mapping of chromosome 6q sequences in invasive ovarian tumors have implicated several broad regions involving 6q14-16, 6q21-23, 6q25-26, and the telomeric portion in band 6q27 as regions of frequent loss in this malignancy. In order to define regions of loss involved in the development of ovarian cancer, we used 23 polymorphic markers on 6q to examine allelic loss in 25 high-grade, late stage ovarian tumors. Four non-overlapping deletion regions were observed: (1) at 6q21-22.3 (D6S301-D6S292); (2) within a 1 cM region at 23.2-23.3 between markers D6S978-D6S1637 (at D6S311); (3) at 6q26 (between markers D6S411-D6S1277) and (4) at 6q27 with the markers D6S297 and D6S193. The highest region of loss was observed with marker D6S311 (lost in 17 of 19 informative cases, 89%) in 6q23.3, followed by D6S977 and D6S1637 (71 and 55%, respectively). The average fractional allele loss in the high-grade tumors was around 35%. Previous reports have shown 6q27 as the region of most frequent loss in invasive ovarian cancer. However, our results indicate a novel region in 6q23.3 (spanning less than 500 Kb distance between the markers) with the highest loss, implicating this region of chromosome 6q to harbor a putative tumor suppressor gene involved in the development of invasive epithelial ovarian cancer.  (+info)

This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or both copies of the affected gene. Other repeat diseases, like Fragile X Syndrome (FXS) have been shown to have chromosome fragility. This has not been previously studied in FA. This research shows that the region of chromosome 9 that contains the FXN locus is intrinsically prone to breakage in vivo even in control cells. However, like FXS alleles, FRDA alleles show significantly elevated levels of chromosome abnormalities in the presence of an ATM inhibitor, consistent with the formation of a fragile site.. Read more: Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia. ...
Introduction: Genomic instability has been proposed to play a role in cancer development and can occur through different mechanisms including telomere association and telomere loss. Studies carried out in our unit have demonstrated that familial papillary thyroid cancer (fPTC) patients display an imbalance, at the germinal level, in telomere-telomerase complex. Aim: We aimed to verify whether familial fPTC patients show an increased spontaneous chromosome fragility. Methods: To this purpose, we compared telomeric fusions and associations as well as other chromosomal fragility features by conventional and molecular cytogenetic analyses, in phytohemagglutinin stimulated T-lymphocytes from fPTC patients, unaffected family members, sporadic papillary thyroid cancer patients, and healthy subjects. Results: We demonstrate that fPTC patients have a significant increase in spontaneous telomeric associations and telomeric fusions compared with healthy subjects and sporadic cases in the frame of an ...
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Fregoso,M. Laine,J.P. Aguilar-Fuentes,J. Moquet,V. Reynaud,E. Coin,F. Egly,J.M. Zurita,M. 2007. DNA repair and transcriptional deficiencies caused by mutations in the Drosophila p52 subunit of TFIIH generate developmental defects and chromosome fragility Molecular and Cellular Biology, 27, 3640-3650 ...
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 - 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.. ...
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. ...
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, ...
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...
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 ...
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
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.
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
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Odbojkarska šola ACH Zmajček je tudi letos priprave na sezono 2014/2015 začela v Cerknem, kjer so pridno vadili in trenirali pod budnim očesom trenerjev, ki so ocenili, da so igralci priprave opravili zelo uspešno.... ...
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 ...
THIS PROJECT DESCRIBES THE ISOLATION OF DNA PROBES LINKED TOTHE SITE IN THE HUMAN X CHROMOSOME INVOLVED IN FRAGILITY OF THE CHROMOSOME UNDER SOME GROWTH CONDITIONS (FRAGILE X SITE) AND KNOWN TO BE ASSOCIATED WITH A HIGH INCIDENCE OF MENTAL RETARDATION. SUCH SEQUENCES MAY BE USEFUL IN UNDER- STANDING THE MOLECULAR DEFECTS RESPONSIBLE FOR CHROMOSOMAL FRAGILITY, IN ELUCIDATING THE PATHOGENESIS OF THE CENTRAL NERVOUS SYSTEM DISORDER, AND IN PROVIDING TOOLS FOR ITS DETECTION. RESEARCHERS WILL INVESTIGATE THE POSSIBILITY THAT LARGE REGIONS OF THE HUMAN AND MOUSE X CHROMOSOMES HAVESIMILAR OR IDENTICAL GENETIC ORGANIZATION AND DETERMINE THE FINE STRUCTURE GENETIC MAP OF THE REGION OF THE MOUSE X CHROMOSOME HOMOLOGOUS TO THE HUMAN FRAGILE SITE AND ITS FLANKING REGIONS. A COMBINATION OF IN SITU HYBRIDIZATION, MAPPING IN RECOMBINANT INBRED (RI) MOUSE STRAINS, AND LINKAGE ANALYSIS IN HUMAN PEDIGREES WILL BE USED TO TEST ANDPROVE TIGHT LINKAGE OF PROBES TO THE FRAGILE X SITE. THE NEW METHODS OF CHROMOSOME ...
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. ...
Then there are the many confused or dubious assertions, such as that the improbable events that underlie his strategy of embracing Black Swans are both impossible to quantify and highly rewarding, or that fragility is like risk in that it is what causes things to fail and has a return premium but unlike risk is quantifiable, that finance professors dont understand real options, or that economists dont understand that f(E(x)),,E[f(x)], or that the biggest investing problem created by Markowitz is too much optimization. His equation for fragility has a couple of subjective parameters (K, and the density of alpha) that are unfalsifiable given his definition of Black Swans (its probability cant be estimated!), and equations with unknown parameters are like bad haikus, or rather, very helpful if you want to impress the mathematically challenged (in case you dont know math, jut ask him if a number of +0.23 is more than 1 sd above average, and what that implies for expected returns). Then there ...
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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.
Definition of fragile histidine triad. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
Schmidl, Martina, Adam, Nadia, Surmann-Schmitt, Cordula, Hattori, Takako, Stock, Michael, Dietz, Uwe, de Crombrugghe, Benoit, Poschl, Ernst and von der Mark, Klaus (2006) Twisted gastrulation modulates BMP- induced collagen II and X expression in chondrocytes in vitro and in vivo. Journal of Biological Chemistry, 281. pp. 31790-31800. ISSN 1083-351X Full text not available from this repository. (Request a copy ...
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Effect of Ground Motion Directionality on Fragility Characteristics of a Highway Bridge. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
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
Main project: Evaluation of alternative damping approaches for nonlinear time history analysis, and their influence on the development of fragility curves used in seismic risk, for low-to-moderate seismicity regions ...
UDK 34. 387. Tudengiteadus . - Pärnu : Tartu Ülikooli Pärnu Kolledž, 2009. - 204 lk. : ill. - (Tartu Ülikooli Pärnu Kolledži publikatsioonid = Publicationes Collegii Peronensis Universitatis Tartuensis, ISSN 1406-944X ; 5 ...
The vast majority of patients with fragile X syndrome show a folate-sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic level, and both amplification of the (CGG)n repeat and hypermethylation of the CpG island in the 5 fragile X gene (FMR-1) at the molecular level. We have studied the FMR-1 gene of a patient with the fragile X phenotype but without cytogenetic expression of FRAXA, a (CGG)n repeat of normal length and an unmethylated CpG island. We find a single point mutation in FMR-1 resulting in an Ile367Asn substitution. This de novo mutation is absent in the patients family and in 130 control X chromosomes, suggesting that the mutation causes the clinical abnormalities. Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA. ...
Allelic deletions involving the short arm of chromosome 3 (3p13-21.1) have been observed frequently in cervical carcinomas. Recently, a candidate tumor suppressor gene, FHIT (Fragile Histidine Triad), was cloned and mapped to this chromosomal region (3p14.2). Abnormal FHIT transcripts have been identified previously in a variety of tumor cell lines and primary carcinomas, although their significance and the molecular mechanisms underlying their origin remain incompletely defined. In addition, integration of human papillomavirus DNA has been identified at a fragile site (FRA3B) within the FHIT locus in cervical cancer. These observations motivated us to evaluate FHIT mRNA and protein expression in cervical cancer cell lines, primary cervical carcinomas, and normal tissues. Transcripts of the expected size and sequence were the predominant species identified by reverse transcription (RT)-PCR in cultured keratinocytes and all normal tissues evaluated. In contrast, aberrant FHIT transcripts were ...
BACKGROUND: Randomized controlled trials (RCTs) are often used to inform clinical practice and it is desirable that their results be robust. A fragility index (FI), defined as the smallest number of participants in whom an outcome change from non-event to event would turn a statistically significant result to a non-significant result, can be computed to measure robustness. We sought to determine the distribution of fragility indices across various research areas and summarized the factors associated with fragility.. METHODS: We searched PubMed between February 2014 and May 2019 and included reviews that reported on fragility indices and the associated factors. Two investigators independently screened articles for eligibility and extracted all relevant data from each review. Fragility indices were pooled using random effects meta-analysis.. RESULTS: Twenty-four (24) reviews met the inclusion criteria. They contained a median of 41 trials (first quartile [Q1]-third quartile [Q3]: 17-120). The ...
In this article, the author analyzes closely the most famous Eucharistic hymn written by St. Aquinas, Adoro Te devote, in the light of passages from the Summa Theologiae which treat the Holy Eucharist. In looking at Fra Angelicos La Crocefissione, which contains one of the renowned portraits of St. Thomas, the author finds similarities with the hymn ...
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
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The human fragile histidine triad (FHIT) gene encodes a protein that is involved in purine metabolism. Aberrant transcripts from this gene, typically from carcinogen-induced damage and translocations, have been found in about half of all esophageal, stomach, and colon carcinomas. Although the exact function of human FHIT protein is not known, animal studies have demonstrated its role as a tumor suppressor in breast and lung cancers. FHIT protein is also known as bis(5-adenosyl)-triphosphatase, diadenosine 5,5-P1,P3-triphosphate hydrolase, AP3A hydrolase, AP3Aase, dinucleosidetriphosphatase, and FRA3B.. ...
The human fragile histidine triad (FHIT) gene encodes a protein that is involved in purine metabolism. Aberrant transcripts from this gene, typically from carcinogen-induced damage and translocations, have been found in about half of all esophageal, stomach, and colon carcinomas. Although the exact function of human FHIT protein is not known, animal studies have demonstrated its role as a tumor suppressor in breast and lung cancers. FHIT protein is also known as bis(5-adenosyl)-triphosphatase, diadenosine 5,5-P1,P3-triphosphate hydrolase, AP3A hydrolase, AP3Aase, dinucleosidetriphosphatase, and FRA3B.. ...
Erythrocyte fragility refers to the propensity of erythrocytes (red blood cells, RBC) to hemolyse (rupture) under stress. It can be thought of as the degree or proportion of hemolysis that occurs when a sample of red blood cells are subjected to stress (typically physical stress, and most commonly osmotic and/or mechanical stress). Depending on the application as well as the kind of fragility involved, the amount of stress applied and/or the significance of the resultant hemolysis may vary. When multiple levels of stress are applied to a given population/sample of cells, a fragility profile can be obtained by measuring the relative or absolute extent of hemolysis existing at each such level, in addition to finding one or more single-number indexes (either measured directly or interpolated) associated with particular respective levels of hemolysis and/or corresponding stress. Fragility testing can be useful to assess cells ability (or lack thereof) to withstand sustained or repeated stress. ...
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The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis. The fragile X syndrome was one of the first examples of a novel class of disorders caused by a trinucleotide repeat expansion. In the normal population, the CGG repeat varies from six to 54 units. Affected subjects have expanded CGG repeats (,200) in the first exon of the FMR1 gene (the full mutation). Phenotypically normal carriers of the fragile X syndrome have a repeat in the 43 to 200 range (the premutation). The cloning of the FMR1 gene led to the characterisation of its protein product FMRP, encouraged further clinical studies, and opened up the possibility of more accurate family studies and fragile X screening programmes.. ...
TY - JOUR. T1 - The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC). AU - Clark, Rosie. AU - Gregory, Steve. AU - Ring, Susan. AU - Jacobs, Patricia. AU - Ennis, Sarah. AU - Murray, Anna. AU - Ellis, Genette. AU - Golding, Jean. AU - Northstone, Kate. AU - Pembrey, Marcus. PY - 2019/8/2. Y1 - 2019/8/2. N2 - The FRAXA and FRAXE alleles of the FMR1 and FMR2 genes located on the X chromosome contain varying numbers of trinucleotide repeats. Large numbers of repeats at FRAXA (full mutations) manifest as Fragile X syndrome, associated with mental impairment that affects males more severely. In this paper, we present the dataset of frequencies of FRAXA and FRAXE repeat size extracted from DNA samples collected from boys enrolled in the Avon Longitudinal Study of Parents and Children (ALSPAC). DNA data were extracted from samples collected in ALSPAC clinics from several types of samples: cord blood, venepuncture blood taken at 43 months, 61 ...
In this study, we have demonstrated that 44% of colorectal cancers have markedly reduced expression of Fhit protein. A similar reduction of Fhit protein expression has been reported in other human tumors such as lung (4) , cervical (12) , renal (11) , pancreatic (10) , head and neck (6) , and breast (5) carcinomas. The frequent loss of Fhit protein expression, the expression of aberrant FHIT transcripts, and numerous deletions within the FHIT gene suggest that FHIT is a candidate suppressor gene common to many cancers (reviewed in Ref. 1 ). In addition to the loss of Fhit protein expression, our studies found additional evidence that suggests that Fhit is important in colon tumorigenesis. A trend of increased proportions of colorectal cancers expressed reduced levels of Fhit (a) with decreasing degrees of differentiation, (b) with more advanced stages (Dukes stage C and D) compared with less advanced stages (Dukes stage A and B) of primary tumors, and (c) in metastatic lesions compared with ...
1FHI: Genetic, biochemical, and crystallographic characterization of Fhit-substrate complexes as the active signaling form of Fhit.
Dvorana VŠD Hoče, gledalcev 200, sodnici Tovornik in Miklošič (obe Maribor).. Hoče : Črnuče 3:0 (20, 16, 23). Hoče: Cafuta 10, Klinc (L), Šijanec 13, Drvarič 1, Kolman 7, Špindler 15, Lobnik, Franc 7, Repa (L), Berglez, Šikanič, Ivančič.. Črnuče: Trobiš 11, Mihelčič, Hodžič-Šlejkovec 2, Čopi 4, Gornik, Tepič 2, Marovt, Rutar 4, Slovnik 4, Valenčič 7, Kumer (L), Slobodnjak (L).. Trenerji pravijo, da je v tekmah, ki ne odločajo o ničemer, težko ohraniti zbrano glavo. To se je izkazalo tudi včeraj v Hočah na zadnji tekmi zelene skupine. Kljub temu, da so se naši fantje želeli izkazati pred avtobusno odpravo črnuških navijačev, jim to včeraj ni šlo od rok. Obe ekipi sta igrali s premešanima postavama, vendar gostje proti visoko motiviranim domačinom enostavno niso pokazali igre na prvoligaški ravni.. Toda spomnimo se, kakšna so bila pričakovanja Črnučanov pred začetkom sezone. Trener Brumen je za svojo ekipo, polno prvoligaških novincev napovedoval ...
Do you kiss your loved ones goodbye when you leave? Do you tell them you love them, even if theyve pissed you off? Im not just talking about when theyre deployed or in danger or when youre not going to see them for a long time. Im talking every day. Im a stickler for that. I will say I love you to my loved ones every time Im done speaking to them. On the phone, in person. Even if Im flaming at mad, Ill still say I love you. Because I know how true it is. I wasnt exactly happy with Jonathan our last phone conversation (maybe one day Ill tell that story) but I still told him I loved him, because I still did. Even if Id been a super bitch to him on the phone ...
Thus the decision to withhold the 12-lead is in Talebs view, a fragile one. If you lose, you (and the patient) can be broken. You want always to avoid the state of fragility. You want to be antifragile. Your gut may tell you its not cardiac, but in this situation where the possibility of failure exists, having a redundant system like a 12-lead provides you protection. At a low cost of doing a 12-lead, you prevent a catastrophe - missing a STEMI. ...
... chemotherapy toxicity and may display chromosome fragility" (PDF). Genetics in Medicine. 20 (4): 452-457. doi:10.1038/gim. ... the DNA of a homologous chromosome that is not broken forming a displacement loop (D-loop). After strand invasion, the further ...
Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. PKP1 has been shown to ... genes map to human chromosomes 1q and 17, respectively". Hum Genet. 100 (3-4): 486-8. doi:10.1007/s004390050539. PMID 9272178. ... Skin fragility syndrome GRCh38: Ensembl release 89: ENSG00000081277 - Ensembl, May 2017 GRCm38: Ensembl release 89: ... "Entrez Gene: PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)". Hofmann I, Mertens C, Brettel M, Nimmrich V, ...
Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay ... Furthermore, cells will show chromosomal aberrations, the most frequent being monosomy 7 and partial trisomies of chromosome 3q ... as this gene is on the X chromosome. These genes are involved in DNA repair. The carrier frequency in the Ashkenazi Jewish ... which means that if the mother carries one mutated Fanconi anemia allele on one X chromosome, a 50% chance exists that male ...
"Human chromosome fragility", Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 1779 (1): 3-16, doi:10.1016/j. ... A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend ... Common fragile sites are considered part of normal chromosome structure and are present in all (or nearly all) individuals in a ... Sutherland, GR; Baker, E; Seshadri, RS (Jul 1980). "Heritable fragile sites on human chromosomes. V. A new class of fragile ...
... chromosome instability MeSH C23.550.210.110.180 - chromosome fragility MeSH C23.550.210.170 - chromosome breakage MeSH C23.550. ... chromosome fragility MeSH C23.550.382.250 - eosinophilic granuloma MeSH C23.550.382.375 - granuloma annulare MeSH C23.550. ... ring chromosomes MeSH C23.550.210.815 - sex chromosome aberrations MeSH C23.550.210.815.970 - xyy karyotype MeSH C23.550. ... 210.175 - chromosome deletion MeSH C23.550.210.420 - inversion, chromosome MeSH C23.550.210.430 - isochromosomes MeSH C23.550. ...
... chromosome fragility MeSH G13.920.590.175.175 - chromosome breakage MeSH G13.920.590.175.177 - chromosome deletion MeSH G13.920 ... chromosome fragility MeSH G13.380.350 - gene dosage MeSH G13.380.355 - genetic predisposition to disease MeSH G13.380.360 - ... ring chromosomes MeSH G13.920.590.175.815 - sex chromosome aberrations MeSH G13.920.590.175.815.970 - xyy karyotype MeSH ... 420 - inversion, chromosome MeSH G13.920.590.175.430 - isochromosomes MeSH G13.920.590.175.570 - micronuclei, chromosome- ...
Freudenreich CH (September 2007). "Chromosome fragility: molecular mechanisms and cellular consequences". Frontiers in ... Holocentric chromosomes were described for the first time in 1935 to identify chromosomes with a diffuse kinetochore (or with a ... Holocentric chromosomes are chromosomes that possess multiple kinetochores along their length rather than the single centromere ... the term holocentric chromosome has referred to chromosomes that: i) they lack the primary constriction corresponding to ...
The COL1A1 gene is located on the long (q) arm of chromosome 17 between positions 21.3 and 22.1, from base pair 50,183,289 to ... which results in bone fragility and other symptoms. Osteogenesis imperfecta, type II: Many different types of mutations in the ... specific heterozygous arginine-to-cysteine substitution mutations in COL1A1 that are also associated with vascular fragility ...
A haploinsufficiency of the ATP2C1 gene located on chromosome 3, which encodes the protein hSPCA1, causes malformation of the ... Ectodermal dysplasia or skin fragility syndrome is caused by plakophillin 1 mutations. This is manifested by detachment of ...
Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15.[5][6] ... The fragility of the connective tissue usually results in aortic aneurysms due to the wall having the inability to withstand ... FBN-1'' is a gene approximately 200kb and is made up of a large coding sequence divided into 65 exons located on chromosome 15 ... MFS is caused by a mutation in the ''FBN1'' gene positioned at chromosome 15q21.1 resulting in a deconstructed form of ...
1999). "cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein". Matrix ... a connective tissue disorder characterized by bone fragility and low bone mass. GRCh38: Ensembl release 89: ENSG00000170275 - ... characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP)". Cytogenet. Cell Genet ...
Upon its recruitment by FANCD2, FAN1 acts to restrain DNA replication fork progression and to prevent chromosome abnormalities ... Analysis of blood samples revealed only mild ICL agent sensitivity and chromosomal fragility consistent with Fanconi Anemia. A ... suggests that the gapped intermediate that forms following ICL unhooking may be repaired through HR when homologous chromosomes ...
Type 1 has mutations in the protein disulfide-isomerase (P4HB) gene located on the long arm of chromosome 17 (17q25). Type 2 ... Cole DEC, Carpenter, TO (1987) Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial ... located on the short arm of chromosome 3 (3p22.3). Clinically these forms are very similar and are best differentiated by gene ... have mutations in the protein transport protein Sec24D (SEC24D) gene located on the long arm of chromosome 4 (4q26). A third ...
The human P4HB gene is localized in chromosome 17q25. Unlike other prolyl 4-hydroxylase family proteins, this protein is ... Furthermore, heterozygous missense mutation in P4HB can cause Cole-Carpenter syndrome, a severe bone fragility disorder. P4HB ...
Riddoch syndrome Right middle lobe syndrome Riley-Day Syndrome Riley-Day syndrome Ring chromosome 14 syndrome Ring chromosome ... syndrome Singleton Merten syndrome Situs ambiguus Sjögren's syndrome Sjögren-Larsson syndrome Skeeter syndrome Skin fragility ... myelodysplastic syndrome Childhood tumor syndrome Chinese Restaurant Syndrome Chromosomal deletion syndrome Chromosome 5q ...
The most common mutations are D187N/Y (G654A/T on gene GSN, chromosome 9) with additional reports of G167R, N184K, P432R, A551P ... skin fragility with ecchymosis, facial mask, diffuse hair loss, dry skin, carpal tunnel syndrome, nephrotic syndrome, ...
... , also known as LUM, is an extracellular matrix protein that, in humans, is encoded by the LUM gene on chromosome 12. ... skin fragility and corneal opacity in the absence of lumican". The Journal of Cell Biology. 141 (5): 1277-86. doi:10.1083/jcb. ... to chromosome 12q21.3-q22". Genomics. 27 (3): 481-8. doi:10.1006/geno.1995.1080. PMID 7558030. Iozzo RV, Schaefer L (Mar 2015 ...
The first case was in 1897 of a male who was described by Bruck as having bone fragility and bone contractures. Bruck was ... Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17". Proceedings of the National Academy of ... Diagnosis of Bruck syndrome must distinguish the association of contractures and skeletal fragility. Ultrasound is used for ... 1998). "Brack syndrome: a rare combination of bone fragility and multiple congenital joint contractures". Journal of Pediatric ...
Typically, autism cannot be traced to a Mendelian (single-gene) mutation or to a single chromosome abnormality, and none of the ... These symptoms do not imply sickness, fragility, or emotional disturbance. Of the five PDD forms, Asperger syndrome is closest ... About 10-15% of autism cases have an identifiable Mendelian (single-gene) condition, chromosome abnormality, or other genetic ... consensus guidelines in the US and UK are limited to high-resolution chromosome and fragile X testing. A genotype-first model ...
... of chromosome 15 at position 15.1, from base pair 40,470,961 to base pair 40,474,571. The CHST14 gene is 3,611 bases long, ... and multisystem fragility-related manifestations". American Journal of Medical Genetics. Part A. 152A (6): 1333-46. doi:10.1002 ... combined with progressive fragility of affected structures, with increased incidence of bruising, recurrent joint dislocations ...
Homologous chromosomes move and rapidly initiate contact at the sites of double-strand breaks in genes in G0-phase human cells ... DNA topoisomerases participate in fragility of the oncogene RET. PLoS One. 2013 Sep 11;8(9):e75741. Mehta RS, Carty SE, Ohori ...
The chromosomal location for this TCHH gene is located on chromosome 1. The condition usually improves over time, and will have ... and due to their historical utility in controlling nail fragility and improving hair growth after 4 months of supplementation. ... Uncombable Hair Syndrome 3 is caused by a defect in the PADI3 gene (peptidylarginine-deiminase 3) and located on chromosome 1. ... Tchromosomal location of Transglutaminase 3 is located on chromosome 20. An experiment was done where Transglutaminase 3 ...
The gene that codes for PIGA is located on the X chromosome, which means that only one active copy of the gene for PIGA is ... The Ham test involves placing red blood cells in mild acid; a positive result (increased RBC fragility) indicates PNH or ...
"Entrez Gene: C20orf42 chromosome 20 open reading frame 42". FERMT1 Info with links in the Cell Migration Gateway Human FERMT1 ... in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome". J. Invest. Dermatol. 122 (1): 78-83 ...
Diab, M., Raff, M., Gunther, D.F. (2002). Osseous fragility in Marshall-Smith syndrome. Clinical Report: Osseous fragility in ... This gene is located on the short arm of chromosome 19 (19p13.1).[citation needed] Clinical course Respiratory difficulties ( ...
... and a similar number and structure of chromosomes and autosomes. A number, but not all, of extant typical owls seem to have ... complex environment factors often correlated with global warming are probably at the forefront of the fragility of the snowy ...
Skin fragility syndrome GRCh38: Ensembl release 89: ENSG00000057294 - Ensembl, May 2017 GRCm38: Ensembl release 89: ... to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization". Cytogenet. Cell Genet. 88 (3-4): 286-7. doi ... A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. Plakophilin-2 is a member of the ...
A family with recessive osteogenesis imperfecta has been reported to have a mutation in the TMEM38B gene on chromosome 9.[45] ... Spinal fusion can be performed to correct scoliosis, although the inherent bone fragility makes this operation more complex in ... OI caused by homozygous or compound heterozygous mutations in the WNT1 gene on chromosome 12q13. It is autosomal recessive.[44] ... OI caused by mutations in FKBP10 on chromosome 17q21.[39] The mutations cause a decrease in secretion of trimeric procollagen ...
The TCIRG1 gene is present in chromosome locus 11q13, which encodes for the a3 subunit of vacuolar H+ ATPase (V-ATPase) that is ... patients with DSS develop osteopenia and bone fragility. DSS also affects specific areas of the human skeleton, such as the ... The TNFRSF11A gene is present in chromosome locus 18q21.33, which encodes for the receptor activator of NF-κB (RANK). RANK is ... The SLC29A3 gene is present in chromosome locus10q22.1, which encodes for the equilibrative nucleoside transporter 3 (ENT3), a ...
The gene was identified by positional cloning.[4] The EVC gene maps to the chromosome 4 short arm (4p16). The function of a ... Skin fragility syndrome. Ectodermal dysplasia. *Naegeli syndrome/Dermatopathia pigmentosa reticularis. *Hay-Wells syndrome ...
European Chromosome 11 Network - Support group for patients with chromosome 11 disorders, their families and relatives ... Ring chromosome 11- in this case genetic material from both long and short arm of the chromosome get deleted, and the remaining ... The affected children have deletions on chromosome 11 as well as some extra genetic material from another chromosome.[13] ... 11Q Research & Resource - U.S.-based support group for patients with chromosome 11 disorders, their families and relatives ...
In most individuals, this DQ2.5 isoform is encoded by one of two chromosomes 6 inherited from parents (DQ2.5cis). Most coeliacs ... bone weakening and risk of fragility fractures). ... located on the short arm of the sixth chromosome. ... and these individuals are at similar risk for coeliac disease as those with a single DQ2.5-bearing chromosome 6, but in this ...
Chromosome 17[edit]. The most common cause of CMT (70-80% of the cases) is the duplication of a large region on the short arm ... plakophilin: Skin fragility syndrome. *Arrhythmogenic right ventricular dysplasia 9. *centrosome: PCNT (Microcephalic ... of chromosome 17 that includes the gene PMP22. Some mutations affect the gene MFN2, on chromosome 1, which codes for a ...
Chromosome 5q deletion syndrome. *Sideroblastic anemia. *Paroxysmal nocturnal hemoglobinuria. *Refractory cytopenia with ... Skin fragility syndrome. Ectodermal dysplasia. *Naegeli syndrome/Dermatopathia pigmentosa reticularis. *Hay-Wells syndrome ...
Fathers will not pass X-linked traits to their sons since they do not pass on the X chromosome to their male offspring. ... plakophilin: Skin fragility syndrome. *Arrhythmogenic right ventricular dysplasia 9. *centrosome: PCNT (Microcephalic ... which means the mutated gene responsible for the condition is located on the X chromosome. Males with X-linked nonsyndromic ...
increased DNA damage and chromosome aberrations; progeria; aspects of premature aging; altered expression of numerous DNA ... increased DNA damage and chromosome aberrations, sensitivity to DNA-damaging agents and deficiency in homologous recombination[ ... Skin fragility syndrome. Ectodermal dysplasia. *Naegeli syndrome/Dermatopathia pigmentosa reticularis. *Hay-Wells syndrome ...
CHM Chromosome 22q13.3 deletion syndrome; 606232; SHANK3 Chromosome 5q14.3 deletion syndrome; 613443; MEF2C Chrondrodysplasia, ... ZBTB16 Skin fragility-woolly hair syndrome; 607655; DSP Skin/hair/eye pigmentation 9, dark/light hair; 611742; ASIP Slowed ... LHCGR Premature chromosome condensation with microcephaly and mental retardation; 606858; MCPH1 Premature ovarian failure 2B; ... chromosome 6-linked; 600110; ELOVL4 Macular dystrophy, patterned; 169150; PRPH2 Macular dystrophy, retinal, 2; 608051; PROM1 ...
Dhar MK, Sehgal S, Kaul S (May 2012). "Structure, replication efficiency and fragility of yeast ARS elements". Research in ... ARSs are found distributed across 16 chromosomes, repeated every 30-40 kb. Between species, these ARS sequences are variable, ...
November 2008). "Y‐chromosome variation among Sudanese: Restricted gene flow, concordance with language, geography, and history ... Therefore, the mud architecture is no longer practical because of its fragility, as well as cultural changes and foreign ... "Genetic Patterns of Y-chromosome and Mitochondrial DNA Variation, with Implications to the Peopling of the Sudan" (PDF). ...
The teeth can also look normal in color, but also have a physical impression of extreme fragility and thinness in appearance. ... The onset of TDO begins with a 4 base pair deletion on chromosome 17q21, causing a mutation, specifically frameshift, and the ...
The COL3A1 gene is located on the long (q) arm of chromosome 2 at 2q32.2, between positions 188,974,372 and 189,012,745. The ... These mice developed severe skin wounds, demonstrated vascular fragility in the form of reduced tensile strength and died ...
As the early mapping of genes on the bacteriophage T4 chromosome progressed, it became evident that the arrangement of the ... "Biological Co-Adaptation of Morphological and Composition Traits Contributes to Mechanical Functionality and Skeletal Fragility ... co-located on the chromosome, that are evolutionarily conserved across numerous taxa. Some conserved blocks are operons, where ...
... as this fragility is involved in the development of tumors. A team from the Institut de Génétique et de Biologie Moleculaire et ... Why are certain chromosome regions prone to breakages? The answer is crucial, ... New light shed on chromosome fragility. December 26, 2011 Why are certain chromosome regions prone to breakages? The answer is ... crucial, as this fragility is involved in the development of tumors. A team from the Institut de Génétique et de Biologie ...
This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or ... Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia Details Written by Jen Farmer Category: Scientific ... Other repeat diseases, like Fragile X Syndrome (FXS) have been shown to have chromosome fragility. This has not been previously ... Read more: Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia ...
Molecular bases underlying chromosome fragility at Replication Slow Zones in Saccharomyces cerevisiae ... Next, the mechanism underlying chromosome fragility at RSZs was investigated by examining the contribution of various ... chromosome segregation, and (v) cytokinesis. The analyses suggest that chromosome breakage within RSZs requires the actions of ... The Rrm3 helicase and Psy2 phosphatase complex were found to suppress chromosome breakage at RSZs in a manner dependent on Tel1 ...
Workshop Molecular Cross Talk Among Chromosome Fragility Syndromes. Zoom *Title K.J. Patel y Hein Te Riele. Workshop Molecular ...
Chromosome fragility and the abnormal replication of theFMR1locus in fragile X syndrome. ... Our data suggest a model for chromosome fragility in FXS in which the repeat impairs replication from an origin of replication ... The molecular basis of the chromosome fragility is unknown. Previous work has suggested that the stable intrastrand structures ... Such alleles are associated with a fragile site, FRAXA, a gap or constriction in the chromosome that is coincident with the ...
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Skin fragility-woolly ... FAQs About Chromosome Disorders. *Medical and Science Glossaries. * Healthcare Professionals expand submenu for Healthcare ... Registries for Skin fragility-woolly hair-palmoplantar keratoderma syndrome:. The National Registry for Ichthyosis & Related ... PubMed is a searchable database of medical literature and lists journal articles that discuss Skin fragility-woolly hair- ...
Molecular bases underlying chromosome fragility at Replication Slow Zones in Saccharomyces cerevisiae. Doctoral thesis , UCL ( ... Molecular bases underlying chromosome fragility at Replication Slow Zones in Saccharomyces cerevisiae ... Molecular bases underlying chromosome fragility at Replication Slow Zones in Saccharomyces cerevisiae. ... Next, the mechanism underlying chromosome fragility at RSZs was investigated by examining the contribution of various ...
Telomere abnormalities and chromosome fragility in patients affected by familial papillary thyroid cancer. ... Aim: We aimed to verify whether familial fPTC patients show an increased spontaneous chromosome fragility. Methods: To this ... Telomere abnormalities and chromosome fragility in patients affected by familial papillary thyroid cancer. ... Aim: We aimed to verify whether familial fPTC patients show an increased spontaneous chromosome fragility. Methods: To this ...
Spatial chromosome folding and active transcription drive DNA fragility and formation of oncogenic MLL translocations. Mol Cell ... Topoisomerase II-induced chromosome breakage and translocation is determined by chromosome architecture and transcriptional ... Atkin ND, Raimer HM, Wang Y-H. Broken by the cut: a journey into the role of topoisomerase II in DNA fragility. Genes. 2019;10: ... Chromatin hyperacetylation impacts chromosome folding by forming a nuclear subcompartment. Mol Cell. 2020;78:112-126.e112. ...
Replication-Dependent Mechanism of Chromosome Fragility at the Site of Inverted Repeats in Saccharomyces cerevisiae. . ... Replication-Dependent Mechanism of Chromosome Fragility at the Site of Inverted Repeats in Saccharomyces cerevisiae - Descarga ... Replication-Dependent Mechanism of Chromosome Fragility at the Site of Inverted Repeats in Saccharomyces cerevisiae. ... From this data, we propose a model for a replication-dependent mechanism of chromosomal fragility at the site of inverted ...
Freudenreich CH (September 2007). "Chromosome fragility: molecular mechanisms and cellular consequences". Frontiers in ... Holocentric chromosomes were described for the first time in 1935 to identify chromosomes with a diffuse kinetochore (or with a ... Holocentric chromosomes are chromosomes that possess multiple kinetochores along their length rather than the single centromere ... the term holocentric chromosome has referred to chromosomes that: i) they lack the primary constriction corresponding to ...
... were arrested in methaphase and analyzed for chromosome fragility. Mean chromosome breaks per cell in the left-sided colorectal ... Chromosome sensitivity to bleomycin-induced mutagenesis in lymphocytes from colorectal cancer patients under 40 years of age ... Methods: We studied chromosomal fragility in peripheral blood lymphocytes of patients under the age of 40 with large bowel ...
X chromosomes in mammals are special because genes do not jump from the sex chromosome to other chromosome. And therefore you ... And by the time we finished transformation of the mouse X chromosome into a human X chromosome, we will actually count three ... So today well focus on a slightly more simple problem of transforming mouse X chromosome into human X chromosome. ... Week 4: Genome Rearrangements and Fragility. ,p,Welcome to Week 4 of the class!,/p, ,p,You now know how to compare two DNA (or ...
Human chromosome fragility. Biochim. Biophys. Acta. 1779, 3-16.CrossRefPubMedGoogle Scholar ... Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome. Human Mol. Genetics. 23, 2940-2952. ... The role of DNA damage response pathways in chromosome fragility in fragile X syndrome. Nucleic Acids Res. 37, 4385-4392. ... fragile X syndrome mental retardation chromosome fragility FRAXA FMR1 fluorescent in situ hybridization ...
Increased chromosome fragility in lymphocytes of short normal children treated with recombinant human growth hormone. In: Human ... Increased chromosome fragility in lymphocytes of short normal children treated with recombinant human growth hormone. Human ... Increased chromosome fragility in lymphocytes of short normal children treated with recombinant human growth hormone. / ... title = "Increased chromosome fragility in lymphocytes of short normal children treated with recombinant human growth hormone", ...
Mutagen-induced chromosome fragility. * Sunlight (cancer of the lower lip and malignant disease of skin) ...
Sperm fragility assay. Fragility of the caudal epididymis sperm of mutant and wild-type mice was determined by dropping ... Partial Deletion of Chromosome 8 β-defensin Cluster Confers Sperm Dysfunction and Infertility in Male Mice Download PDF České ... The three human orthologues to Defb15, Defb35 and Defb13 (DEFB106, DEFB105 and DEFB107 respectively) are on the chromosome 8 ... proLékaře.cz / Odborné časopisy / PLOS Genetics / 2013 - 10 / Partial Deletion of Chromosome 8 β-defensin Cluster Confers Sperm ...
Chromosome Fragility * Chromosome Mapping * DNA, Complementary / analysis * DNA, Complementary / genetics * Epilepsy / genetics ...
Freudenreich CH . Chromosome fragility: molecular mechanisms and cellular consequences. Front Biosci 2007; 12:4911-4924. ... McClintock B . The stability of broken ends of chromosomes in Zea Mays. Genetics 1941; 26:234-282. ... Lopes M, Foiani M, Sogo JM . Multiple mechanisms control chromosome integrity after replication fork uncoupling and restart at ... Failure to repair DSBs or their misrepair can result in chromosome loss, chromosomal rearrangements, apoptosis, or ...
Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites. Pages 489-526. Feng, Wenyi (et al.) ... Interaction of Rif1 Protein with G-Quadruplex in Control of Chromosome Transactions ...
Chromosome fragility: When Replication Goes Awry. We are interested in the mechanisms of how replication defects lead to DNA ... We also develop novel methods using NextGen sequencing to identify chromosome fragile sites in the human genome. ...
Chromosome fragility: molecular mechanisms and cellular consequences. Catherine H. Freudenreich. [Frontiers In Bioscience, ... Hairpin- and cruciform-mediated chromosome breakage: causes and consequences in eukaryotic cells. Kirill S. Lobachev, Alison ...
Genome Organization Drives Chromosome Fragility. Canela A, Maman Y, Jung S, Wong N, Callen E, Day A, Kieffer-Kwon K, Pekowska A ... In 2005, we devised a method to monitor chromosome translocations between c-myc and IgH in vitro. We then performed a series of ...
Researchers from the University of Zurich and University Childrens Hospital Zurich have discovered the first X-chromosome- ... in the X chromosome. The disease is inherited in an X-chromosome-recessive manner and affects men and boys as only they carry a ... The patients suffer from heightened bone fragility, bone deformities and stunted growth. In both families, this new form of ... Researchers from the University of Zurich and University Children's Hospital Zurich have discovered the first X-chromosome ...
Human chromosome fragility. Biochim. Biophys. Acta. 2008;1779:3-16 56. Lieberthal W, Koh JS, Levine JS. Necrosis and apoptosis ... Marker chromosomes like translocated Y chromosome, metacentric minute chromosomes and three large acrocentic chromosomes have ... DU 145 karyotype analyses show the threefold existence of the chromosome 8. The impact of alterations of chromosome 8 and the ... Allelic loss on chromosome 8p12-21 in microdissected prostatic intraepithelial neoplasia. Cancer Res. 1995;55:2959-2962 ...
Lyon MF (1962) Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 14:135-148Google Scholar ... Lloyd SJ (1978) Osmotic fragility of erythrocytes in Duchenne muscular dystrophy. Br Med J 2:252Google Scholar ... Berg G, Conte F (1974) Duchenne dystrophy in a female with a structurally abnormal X-chromosome. Neurology 24:356Google Scholar ... Spowart G, Buckton KE, Skinner R, Emery AEH (1982) X-chromosome in Duchenne muscular dystrophy. Lancet i:1251Google Scholar ...
Chromosome analysis is typically done to detect Bloom syndrome. Most often, chromosome fragility testing is performed to make a ... Chromosome Location: BLM gene mutation at locus 15q26.1. *Molecular Genetics: A cytogenetic diagnosis is made via increased ... rate of chromosome breakage and sister chromatid exchange. Incidence and Carrier Frequency[edit]. *Since this is an inherited ...
Researchers from the University of Zurich and University Childrens Hospital Zurich have discovered the first X-chromosome- ... The patients suffer from heightened bone fragility, bone deformities and stunted growth. In both families, this new form of ... Chromosome 3, Chromosome 4, Chromosome 5, Chromosome 6, Chromosome 7, Chromosome 8, Chromosome 9, Chromosome X, Chromosome Y, ... Tags: Bone, Cell, Children, Chromosome, Chromosome 1, Chromosome 2, ...
... in the X chromosome. The disease is inherited in an X-chromosome-recessive manner and affects men and boys as only they carry a ... The patients suffer from heightened bone fragility, bone deformities and stunted growth. In both families, this new form of ... Further reports about: , Biomarkers , Metabolism , Osteogenesis imperfecta , X chromosome , bone metabolism , brittle-bone ... Biomarkers »Metabolism »Osteogenesis imperfecta »X chromosome »bone metabolism »brittle-bone disease »diseases ...
These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific ... 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 ... 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. ...
  • 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)
  • 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)
  • Extreme chromosome 17 copy number instability is a prognostic factor in patients with gastroesophageal adenocarcinoma: A retrospective cohort study. (umassmed.edu)
  • Misregulation of Scm3p/HJURP causes chromosome instability in Saccharomyces cerevisiae and human cells. (umassmed.edu)
  • Mutants in Ctf18-RFC increased all three forms of triplet repeat instability-expansions, contractions, and fragility-with effect over a wide range of allele lengths from 20-155 repeats. (prolekare.cz)
  • Reduced levels of DNA polymerase delta induce chromosome fragile site instability in yeast. (duke.edu)
  • 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)
  • Methods: To this purpose, we compared telomeric fusions and associations as well as other chromosomal fragility features by conventional and molecular cytogenetic analyses, in phytohemagglutinin stimulated T-lymphocytes from fPTC patients, unaffected family members, sporadic papillary thyroid cancer patients, and healthy subjects. (unica.it)
  • From this data, we propose a model for a replication-dependent mechanism of chromosomal fragility at the site of inverted repeats. (duhnnae.com)
  • We studied chromosomal fragility in peripheral blood lymphocytes of patients under the age of 40 with large bowel cancer. (nih.gov)
  • and ii) they possess multiple kinetochores dispersed along the chromosomal axis so that microtubules bind to chromosomes along their entire length and move broadside to the pole from the metaphase plate. (wikipedia.org)
  • Holocentric chromosomes evolved several times during both animal and plant evolution and are currently reported in about eight hundred diverse species, including plants, insects, arachnids and nematodes As a consequence of their diffuse kinetochores, holocentric chromosomes may stabilize chromosomal fragments favouring karyotype rearrangements. (wikipedia.org)
  • Indeed, in phytophagous insects (such as aphids and lepidopterans) holocentrism could be related to the production by plants of compounds able to induce chromosomal breakages (clastogens), whereas in other cases, holocentrism allows facingDNA damage resulting from desiccation and/or other chromosome-breaking factors. (wikipedia.org)
  • Despite these differences, holocentric chromosomes present intrinsic benefits since chromosomal mutations, such as fissions and fusions, are potentially neutral in holocentric chromosomes in respect to monocentric ones. (wikipedia.org)
  • For most of the species, data about holocentrism are related to the analysis of the behaviour of chromosomes during anaphase migration since holocentric sister chromatids migrate in parallel to the spindle poles, in contrast to monocentric ones in which pulling forces are exerted on a single chromosomal point and chromosome arms trail behind. (wikipedia.org)
  • Several observations of DMD in girls bearing X-autosomal translocations and linkage studies on two X chromosomal DNA restriction fragment length polymorphisms indicate that the DMD locus is situated on the short arm of the X chromosome, between Xp11 and Xp22. (springer.com)
  • Chromosomal breakage occurs during apoptosis and chromosome rearrangement. (springer.com)
  • UCT Mainz investigators demonstrated an essential role of spatial chromosomal folding and active transcription in driving DNA fragility and formation of oncogenic translocations (Gothe HJ. (unimedizin-mainz.de)
  • Chromosomal translocations in yeast induced by low levels of DNA polymerase: a model for chromosome fragile sites. (duke.edu)
  • Lymphocytes were collected at 0, 6 and 12 months of rhGH therapy, and we assessed the rate of spontaneous chromosome aberrations, the frequency of sister chromatid exchanges, the proliferative rate indices, the expression of common fragile sites induced by aphidicolin, and the sensitivity towards the radiomimetic action of bleomycin. (elsevier.com)
  • At 6 months of therapy, there was a significant increase in bleomycin-induced chromosome aberrations, which remained unchanged after 1 year of treatment. (elsevier.com)
  • An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. (umassmed.edu)
  • 1984. Nonrandom distribution of methotrexate-induced aberrations on human chromosomes. (koreascience.or.kr)
  • However, like FXS alleles, FRDA alleles show significantly elevated levels of chromosome abnormalities in the presence of an ATM inhibitor, consistent with the formation of a fragile site. (curefa.org)
  • Telomere abnormalities and chromosome fragility in patients affected by familial papillary thyroid cancer. (unica.it)
  • Chromosome G-banding patterns are visualised under the microscope leading to the identification of differences in chromosome number (aneuploidies), large balanced and unbalanced structural rearrangements and mosaic structural and numerical abnormalities. (bmj.com)
  • The diagnosis of chromosome abnormalities below 5 Mb can be improved using fluorescently labelled DNA probes, which bind to specific DNA sequences. (bmj.com)
  • Fanconi anaemia (FA) is an autosomal recessive, genetically heterogeneous disorder, characterised by interstrand crosslink-induced chromosome breaks, congenital abnormalities and predisposition to malignancies. (scielo.org.za)
  • Chromosome abnormalities in domestic sheep. (koreascience.or.kr)
  • The affected sisters also had higher levels of abnormalities in the chromosomes compared with their unaffected mother. (elifesciences.org)
  • This research shows that the region of chromosome 9 that contains the FXN locus is intrinsically prone to breakage in vivo even in control cells. (curefa.org)
  • Inactivation of the essential checkpoint kinase, Mec1, in mec1-ts mutants results in replication fork stalling followed by chromosome breakage at RSZs. (bl.uk)
  • The analyses suggest that chromosome breakage within RSZs requires the actions of the evolutionarily conserved type II topoisomerase and condensin complex. (bl.uk)
  • The Rrm3 helicase and Psy2 phosphatase complex were found to suppress chromosome breakage at RSZs in a manner dependent on Tel1, another checkpoint kinase. (bl.uk)
  • Since it is known that the tendency to develop cancer is closely related to chromosome breakage, we decided to investigate whether recombinant human growth hormone (rhGH) therapy can increase chromosome fragility. (elsevier.com)
  • A natural question to ask is whether there are 'fragile regions' hidden in your genome where chromosome breakage has occurred more often over millions of years. (coursera.org)
  • The site lies in the middle of a tumor suppressor gene and chromosome breakage in this area is highly associated with cancer. (phys.org)
  • What we did was take two of these regions of predicted high flexibility, plus a region near a cancer cell breakpoint and a control region, and test whether any of these regions could cause breakage of a yeast chromosome," Freudenreich said. (phys.org)
  • This is exciting because it is the first known sequence element within a human common fragile site shown to increase chromosome breakage. (phys.org)
  • Chromosome rearrangements such as translocations and deletions are frequently associated with human cancers. (bl.uk)
  • An increase in spontaneous chromosome rearrangements at 6 and 12 months of therapy was also observed. (elsevier.com)
  • High rates of "unselected" aneuploidy and chromosome rearrangements in tel1 mec1 haploid yeast strains. (duke.edu)
  • Diversification of homologues is a unique phenomenon very likely caused by the long-term absence of a recombination and consequential accumulation of chromosome rearrangements in the genome of A. huronensis during species evolution. (biomedcentral.com)
  • Attendees will include those interested in disease-causing repeat expansions, chromosome fragility and rearrangements related to transcription and replication, genome editing and mutational processes, and the biological roles of unusual, non-B DNA structures. (faseb.org)
  • Genomes evolve through a series of local mutations as well as larger-scale genome rearrangements (such as inversions, translocations and duplications) where one or more chromosomes break in one or more locations (called breakpoints) and fragments are reorganized. (biomedcentral.com)
  • This model relies on the implicit assumption that most breaks of synteny (disruption of the order of markers, genes or regulatory elements, along a chromosome caused by genome rearrangements) do not have significant functional implications. (biomedcentral.com)
  • Rearrangements are large scale modifications of the genome, such as inversions or transpositions of DNA segments, translocations between non homologous chromosomes, fusions or fissions of chromosomes, deletions or duplications of small or large portions. (biomedcentral.com)
  • Control of cell identity genes occurs in insulated neighborhoods in mammalian chromosomes. (nature.com)
  • Identification of an origin of bidirectional DNA replication in mammalian chromosomes. (currentprotocols.com)
  • The main cluster is on chromosome 8 in both human and mouse with 10 and 31 β-defensin genes respectively. (prolekare.cz)
  • In human, seven of the chromosome 8 genes lie at two distinct loci approximately 5 Mb apart as a highly copy number variable (CNV) cluster, which vary between 2 and 7 copies per genome [3] . (prolekare.cz)
  • In addition to Chr11, other genes on different chromosomes may contribute to STZ susceptibility in NSY mice. (hindawi.com)
  • Genes on B chromosomes: Old questions revisited with new tools. (ipk-gatersleben.de)
  • Genes Chromosomes Cancer. (umassmed.edu)
  • For both sexes, there was no overrepresentation of sex-biased genes or sex-specific modules on the putative sex chromosome. (g3journal.org)
  • Something is wrong with their chromosomes that then messes up the genes that are in those areas. (phys.org)
  • Large-scale genome rearrangement events modify the order of genes and non-coding conserved regions on chromosomes. (biomedcentral.com)
  • Karyotype structure and chromosome fragility in the grass Phleum echinatum Host. (ipk-gatersleben.de)
  • The cytogenetic analysis confirmed the karyotype composed from eight chromosome triplets (3n = 24) as well as the existence of a pair of NORs located on each chromosome of the second triplet. (biomedcentral.com)
  • Since the 1970s, such imbalances have traditionally been detected through the analysis of chromosomes by karyotype assessment. (bmj.com)
  • In 2005, we devised a method to monitor chromosome translocations between c-myc and IgH in vitro. (cancer.gov)
  • These include: (i) replication fork restart processes (ii) spindle force, (iii) chromosome condensation and decatenation, (iv) chromosome segregation, and (v) cytokinesis. (bl.uk)
  • Meiotic recombination generates genetic diversity in sexually reproducing organisms and facilitates proper synapsis and segregation of homologous chromosomes in gametes. (elifesciences.org)
  • Contrary to our initial expectations, we find that highly degenerated Y chromosomes of many members of the Coleoptera suborder Polyphaga are rarely lost and that cases of Y chromosome loss are strongly associated with chiasmatic segregation during male meiosis. (tamu.edu)
  • We propose the "Fragile Y Hypothesis" that recurrent selection to reduce recombination between the X and Y chromosome leads to the evolution of a small pseudoautosomal region, which, in taxa that require XY chiasmata for proper segregation during meiosis, increases the probability of aneuploid gamete production, with Y chromosome loss. (tamu.edu)
  • This hypothesis predicts that taxa that evolve achiasmatic segregation during male meiosis will rarely lose the Y chromosome. (tamu.edu)
  • Increasing evidence suggests that telomere secondary structures that are essential for chromosome end protection and appropriate chromosome segregation might also represent a hindrance during DNA replication. (europa.eu)
  • 2005. On the nature of folic acid sensitive fragile sites in human chromosomes. (koreascience.or.kr)
  • Our data suggest a model for chromosome fragility in FXS in which the repeat impairs replication from an origin of replication (ORI) immediately adjacent to the repeat. (ovid.com)
  • The patients suffer from heightened bone fragility, bone deformities and stunted growth. (medicalnewstoday.com)
  • The disease is characterized by abnormal bone fragility, osteopenia, blue color of the sclerae, defective dentition, presenile hearing loss, and ligamentous laxity. (ajnr.org)
  • Here, we identify the dual histone methylation reader ZCWPW1, which is tightly co-expressed during spermatogenesis with Prdm9 , as an essential meiotic recombination factor required for efficient repair of PRDM9-dependent DSBs and for pairing of homologous chromosomes in male mice. (elifesciences.org)
  • In the strand invasion step that follows, an overhanging 3' end of the broken DNA molecule then "invades" the DNA of a homologous chromosome that is not broken forming a displacement loop (D-loop). (wikipedia.org)
  • Such alleles are associated with a fragile site, FRAXA, a gap or constriction in the chromosome that is coincident with the repeat and is induced by folate stress or thymidylate synthase inhibitors like fluorodeoxyuridine (FdU). (ovid.com)
  • The presence of a fragile site FRAXA on the X chromosome is typical for patients with this pathology. (springer.com)
  • The method allows one to detect five types of signals on the X chromosome, three of which are normal, while two are associated with the emergence of fragile site FRAXA. (springer.com)
  • FRAXA refers to fragile site A on the X chromosome. (bioportfolio.com)
  • Streptozotocin- (STZ-) induced diabetes is under polygenic control, and the genetic loci for STZ susceptibility are mapped to chromosome (Chr) 11 in Nagoya-Shibata-Yasuda (NSY) mice. (hindawi.com)
  • It has long been thought that in Eusocial insect selection to increase genetic diversity within a colony should indirectly select for increases in the number of chromosomes. (tamu.edu)
  • In this study, we have generated genetic and proteomic analyses of TRF1 depleted telomeres in order to compare CFS with telomere fragility. (europa.eu)
  • Allele loss involving chromosome arm 3p is one of the most frequent and earliest known genetic events in lung cancer pathogenesis and may affect several potential tumor suppressor gene regions. (aacrjournals.org)
  • Alterations in human chromosomes or the deletion of an important gene product are often due to a mutation, which can spring an abundant strand of genetic mutations and improper coding. (artscolumbia.org)
  • Aim: We aimed to verify whether familial fPTC patients show an increased spontaneous chromosome fragility. (unica.it)
  • Results: We demonstrate that fPTC patients have a significant increase in spontaneous telomeric associations and telomeric fusions compared with healthy subjects and sporadic cases in the frame of an otherwise common spontaneous chromosome fragility pattern. (unica.it)
  • Unexpectedly, we observed that despite the similarity of mechanism of induction by replication hindrance (using aphidicolin drug), telomere fragility and CFS do not share the same mechanism of resolution dependent on structure specific nuclease MUS81. (europa.eu)
  • However, holocentric chromosome may also present limitations to crossing over causing a restriction of the number of chiasma in bivalents and may cause a restructuring of meiotic divisions resulting in an inverted meiosis. (wikipedia.org)
  • Thus, the formation of the SC may facilitate meiotic recombination by physically connecting the two chromosomes. (elifesciences.org)
  • Beetle karyotypes are particularly powerful since they normally include information about the meiotic behavior of sex chromosomes. (tamu.edu)
  • FANCM protein was preferentially expressed along the chromosomes in pachytene cells, which undergo meiotic recombination. (elifesciences.org)
  • Such rearrangement of the chromosome can be initiated by a DNA break (DSB) that, when inappropriately repaired, may alter chromosome structure. (bl.uk)
  • Importantly, the colocalization of IGF1, AVP, and life span quantitative trait loci in the distal region of chromosome 2 suggests this locus carries gene(s) that could regulate IGF1, AVP, and life span. (jove.com)
  • Other repeat diseases, like Fragile X Syndrome (FXS) have been shown to have chromosome fragility. (curefa.org)
  • The fact that the replication problem occurs even in the absence of FdU suggests that this phenomenon may havein vivoconsequences, including perhaps accounting for the loss of the X chromosome containing the fragile site that causes Turner syndrome (45, X0) in female carriers of such alleles. (ovid.com)
  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Skin fragility-woolly hair-palmoplantar keratoderma syndrome. (nih.gov)
  • Chromosome analysis is typically done to detect Bloom syndrome. (wikibooks.org)
  • Some expanded triplet repeats also cause chromosome fragility, as in fragile X syndrome [1] - [3] . (prolekare.cz)
  • 76 Skin fragility-woolly hair syndrome: An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia. (malacards.org)
  • Skin Fragility-Woolly Hair Syndrome, also known as sfwhs , is related to woolly hair syndrome and skin fragility-woolly hair-palmoplantar keratoderma syndrome . (malacards.org)
  • An important gene associated with Skin Fragility-Woolly Hair Syndrome is DSP (Desmoplakin). (malacards.org)
  • For example, the absence of a fluorescent probe signal on one copy of chromosome 22 at the q11.2 locus indicates 22q11.2 deletion syndrome (see table 1 ). (bmj.com)
  • Turner Syndrome and Cat-cry Syndrome are both alterations of chromosome structure due to deletion. (artscolumbia.org)
  • In Turner Syndrome, there is a missing X chromosome and in the Cat-cry Syndrome chromosome-18 has been lost or deleted. (artscolumbia.org)
  • Turner Syndrome was described first by Turner in 1938 (Jack H. Hung 1989 p.45) and it was established that this disorder was due to the deletion of an X chromosome in 1959 by Ford, Jones, Polani, de Ameida and Briggs. (artscolumbia.org)
  • 2 In brief, thousands of probes spread across all chromosomes are used to interrogate chromosome copy number and any deviation from the expected number of copies is reported, such that a locus in which a group of probes are missing indicates a deletion of material, while extra copies are consistent with a gain of material. (bmj.com)
  • We think the longer the repeat, the more the abnormal DNA structure forms, and the more fragile your chromosome is, but we haven't completely been able to nail that down," Freudenreich said. (phys.org)
  • Mutations on chromosome 17 or chromosome 7 result in a decreased synthesis of structurally normal type I collagen, the synthesis of structurally abnormal type I collagen, or both ( 1 - 4 ). (ajnr.org)
  • Fragility can cause deletions and deletions can cause cancer, so you want to understand the fragility because that might be what's causing cancer," she continued. (phys.org)
  • Replication-Dependent Mechanism of Chromosome Fragility at the Site of Inverted Repeats in Saccharomyces cerevisiae - Descarga este documento en PDF. (duhnnae.com)
  • Lohi chromosomes expressed lesions in only 7 and 24 bands in the control and FUdR cultures respectively. (koreascience.or.kr)
  • Most small cell lung carcinomas (91%) and squamous cell carcinomas (95%) demonstrated larger 3p segments of allele loss, whereas most (71%) of the adenocarcinomas and preneoplastic/preinvasive lesions had smaller chromosome areas of 3p allele loss. (aacrjournals.org)
  • Researchers from the University of Zurich and University Children's Hospital Zurich have discovered the first X-chromosome-inherited type of the congenital disease osteogenesis imperfecta, also known as brittle-bone disease. (medicalnewstoday.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)
  • 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)
  • Forcing cells to generate really long telomeres caused telomeric fragility, which can lead to initiation of cancer. (thefreedictionary.com)
  • In the past ten years, researchers in genome stability have observed that many kinds of cancer are associated with areas where human chromosomes break. (phys.org)
  • To further study the role of chromosome 3p allele loss in the pathogenesis of lung cancer, we performed high resolution loss of heterozygosity (LOH) studies on 97 lung cancer and 54 preneoplastic/preinvasive microdissected respiratory epithelial samples using a panel of 28 3p markers. (aacrjournals.org)
  • A hypothesis that triplets are composed from three homologue chromosomes of approximately the same length and same centromere position was tested statistically for multiple dependent variables using a non-parametric Friedman's ANOVA. (biomedcentral.com)
  • To test this long-standing hypothesis, we investigated the relationship between eusociality and chromosome number across Hymenoptera . (tamu.edu)
  • In a Tufts University study published in the Aug. 3 journal Molecular Cell , two molecular biologists have used yeast artificial chromosomes to prove the hypothesis. (phys.org)
  • Furlong EEM, Levine M. Developmental enhancers and chromosome topology. (nature.com)
  • Sex (sx) determination is among the most interesting areas of study in modern genetics, with research spanning a large range of topics, including developmental mechanisms, behavior, sex chromosome biology and evolution. (genetics.org)
  • DNA repair and transcriptional deficiencies caused by mutations in the Drosophila p52 subunit of TFIIH generate developmental defects and chromosome fragility Molecular and Cellular Biology, 27, 3640-3650. (unam.mx)
  • In break-induced replication (BIR, steps 4a - 5b - 6b), the D-loop is assembled into a full replication fork, copying the entire distal part of the chromosome to result in loss-of heterozygosity (LOH). (nature.com)
  • These data demonstrated that NSY-Chr14 was a STZ-susceptible chromosome and that STZ susceptibility was mapped to the distal segment of NSY-Chr14. (hindawi.com)
  • 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)
  • Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair. (duke.edu)
  • Freudenreich and Zhang used yeast artificial chromosomes to test this idea because it allowed them to look at the region in a more detailed way than looking at human chromosomes and to monitor the replication process. (phys.org)
  • They expect the results will be similar when tested in human cells based on previous research using yeast chromosomes. (phys.org)
  • Before molecular methods became available, the presence of holocentric chromosomes was evaluated mostly using cytology and, considering that many species are difficult to study cytologically, it can be surmised that the true presence of holocentrism may be underestimated. (wikipedia.org)
  • We also develop novel methods using NextGen sequencing to identify chromosome fragile sites in the human genome. (upstate.edu)
  • A quantitative fluorescence in situ hybridization analysis demonstrates that familial cases display a significant decrease in the telomeric peptide nucleic acid-fluorescence in situ hybridization signal intensity in the metaphase chromosome. (unica.it)
  • In particular, they hypothesized that if the direction of kinetochore origin turns by 90° and occurs along the chromosome axes up to the telomeric regions, it is possible to "generate" holocentric chromosomes without any further step. (wikipedia.org)
  • A refined radiation hybrid map of the telomeric region of bovine chromosome 18q25-q26 compared with human chromosome 19q13. (thefreedictionary.com)
  • All specimens of Astyanax aff paranae showed a discrete localization of heterochromatin in the centromeric region of the chromosomes, plus some pairs with conspicuous telomeric blocks. (thefreedictionary.com)
  • We have previously demonstrated that oxidative stress-induced apoptosis could be a potential mechanism mediating chromosome breakages in nasopharyngeal epithelial cells. (springer.com)
  • Lymphocytes exposed to the radiomimetic agent, bleomycin, were arrested in methaphase and analyzed for chromosome fragility. (nih.gov)
  • Why are certain chromosome regions prone to breakages? (phys.org)
  • Catherine Freudenreich, associate professor of biology at the School of Arts and Sciences at Tufts University, and doctoral student Haihua Zhang focused on one particular human common fragile site - an area that is a normal part of chromosome structure but is prone to breaking. (phys.org)
  • Attainment of negative Philadelphia chromosome hematopoiesis was assessed with cytogenetics and quantitative polymerase chain reaction. (nih.gov)
  • We hypothesised that oxidative stress-induced apoptosis may result in chromosome breaks preferentially at the MAR/SAR sites. (springer.com)
  • In both families, this new form of osteogenesis imperfecta was caused by two different mutations of the same gene (MBTPS2) in the X chromosome. (medicalnewstoday.com)
  • In both families, this new form of oste-ogenesis imperfecta was caused by two different mutations of the same gene (MBTPS2) in the X chromosome. (innovations-report.com)
  • Mutations can spring from deletion, duplication or inversion of a chromosome. (artscolumbia.org)
  • 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. (bioportfolio.com)
  • Most often, chromosome fragility testing is performed to make a cytogenetic diagnosis. (wikibooks.org)
  • Cytogenetic mapping with centromeric BAC contigs shows that this recombination-poor region comprises more than half of barley chromosome 3H. (ipk-gatersleben.de)
  • A set of cytogenetic markers allows the precise identification of all A-genome chromosomes in diploid and polyploid wheat. (ipk-gatersleben.de)
  • A cytogenetic analysis of the new local triploid population of the caryophyllidean tapeworm Atractolytocestus huronensis , a unique parthenogenetic species with the ability to colonise new regions, was performed to understand the inner structure of its chromosome complement. (biomedcentral.com)
  • These findings suggest that Tel1 is somehow implicated in chromosome stability at RSZs. (bl.uk)
  • Past research had predicted the flexibility of the DNA helix in this particular common fragile site by calculating the twist angle between consecutive base pairs and found that there were several points of high flexibility, suggesting that the flexibility was connected to the fragility. (phys.org)
  • This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or both copies of the affected gene. (curefa.org)
  • These chromosomes are also termed holokinetic, because, during cell division, chromatids move apart in parallel and do not form the classical V-shaped figures typical of monocentric chromosomes. (wikipedia.org)
  • β -cell fragility may be shared between type 1 and type 2 diabetes [ 6 , 12 , 13 ]. (hindawi.com)
  • Less is known in mammals about a causative role of repair on contractions or fragility, although CAG repeat contractions in a human cell line depend on elements of mismatch and nucleotide-excision repair [5] . (prolekare.cz)
  • The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. (imperial.ac.uk)
  • 1993. Analysis of aphidicolineinduced chromosome fragile sites in domestic pig (Sus scrofa) Cytogenet cell Genet. (koreascience.or.kr)
  • Sickle cell disease is another disorder but is not caused by the deletion of a chromosome. (artscolumbia.org)
  • These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. (imperial.ac.uk)