TY - JOUR. T1 - Pregnancy outcomes of reciprocal translocation carriers who have a history of repeated pregnancy loss. AU - Ozawa, Nobuaki. AU - Maruyama, Tetsuo. AU - Nagashima, Takashi. AU - Ono, Masanori. AU - Arase, Toru. AU - Ishimoto, Hitoshi. AU - Yoshimura, Yasunori. PY - 2008/10. Y1 - 2008/10. N2 - Cytogenetic investigation of 2,324 Japanese couples with repeated pregnancy loss revealed that 4.91% of couples (n = 114) had chromosome abnormalities including reciprocal translocation (n = 74), Robertsonian translocation (n = 23), and inversion (n = 10). Parental reciprocal translocation was a significant predictor of subsequent miscarriage (adjusted odds ratio: 3.6, 95% confidence interval: 1.8-7.1), and most of the miscarriages of the carrier couples were inevitable because of abnormal karyotypes, despite appropriate treatments.. AB - Cytogenetic investigation of 2,324 Japanese couples with repeated pregnancy loss revealed that 4.91% of couples (n = 114) had chromosome abnormalities ...
TY - JOUR. T1 - DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation. AU - Kato, Takema. AU - Inagaki, Hidehito. AU - Tong, Maoqing. AU - Kogo, Hiroshi. AU - Ohye, Tamae. AU - Yamada, Kouji. AU - Tsutsumi, Makiko. AU - Emanuel, Beverly S.. AU - Kurahashi, Hiroki. PY - 2011/9/14. Y1 - 2011/9/14. N2 - Background. Cumulative evidence suggests that DNA secondary structures impact DNA replication, transcription and genomic rearrangements. One of the best studied examples is the recurrent constitutional t(11;22) in humans that is mediated by potentially cruciform-forming sequences at the breakpoints, palindromic AT-rich repeats (PATRRs). We previously demonstrated that polymorphisms of PATRR sequences affect the frequency of de novo t(11;22)s in sperm samples from normal healthy males. These studies were designed to determine whether PATRR polymorphisms affect DNA secondary structure, thus leading to variation in translocation frequency. ...
Definition of robertsonian translocation in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is robertsonian translocation? Meaning of robertsonian translocation as a legal term. What does robertsonian translocation mean in law?
Selective Chromatid Segregation Mechanism Explains the Etiology of Chromosome 11 Translocation-Associated Psychotic Disorders: A Review Abstract.
Chromosome translocations that form fusion transcripts and/or activate expression of genes by promoter insertion are key events in leukaemias and lymphomas, and mesenchymal tumours, but it has been fashionable to think they are irrelevant to the common epithelial cancers such as breast cancer. However, that view is now being challenged [1-4]; in particular, we have shown that NRG1 is translocated in breast cancers [3]. It seems likely that some translocations in breast cancers target specific genes at their breakpoints, and this is particularly likely for reciprocal translocations. ...
Translocation is the exchange of chromosome segments, usually between nonhomologous chromosomes. There are two primary types of translocations: reciprocal translocations and Robertsonian translocations. A reciprocal translocation occurs when segments from nonhomologous chromosomes break off, with segment attaching to the other chromosome and vice-versa. A Robertsonian translocation occurs when two acrocentric chromosomes (chromosomes with tiny short arms, meaning the centromere is near one end) fuse at the centromere and lose their short arms.. Reciprocal translocations usually involve only two chromosomes, meaning the total chromosome number is unchanged. Reciprocal translocation are typically harmless, despite being more common in individuals so retarded that they require institutional care. There are three kinds of reciprocal translocation: alternate; adjacent-1; and adjacent-2.. Robertsonian translocations lead to a balanced karyotype with only 45 chromosomes. Because acrocentric short arms ...
Genome instability, associated with chromosome breakage syndromes and most human cancers, is still poorly understood. In the yeast Saccharomyces cerevisiae, numerous genes with roles in the preservation of genome integrity have been identified. DNA-damage-checkpoint-deficient yeast cells that lack Sgs1, a RecQ-like DNA helicase related to the human Blooms-syndrome-associated helicase BLM, show an increased rate of genome instability, and we have previously shown that they accumulate recurring chromosomal translocations between three similar genes, CAN1, LYP1 and ALP1. Here, the chromosomal location, copy number and sequence similarity of the translocation targets ALP1 and LYP1 were altered to gain insight into the formation of complex translocations. Among 844 clones with chromosomal rearrangements, 93 with various types of simple and complex translocations involving CAN1, LYP1 and ALP1 were identified. Breakpoint sequencing and mapping showed that the formation of complex translocation types is
Translocations affecting chromosome subband 6p25.3 containing the IRF4 gene have been recently described as characteristic alterations in a molecularly distinct subset of germinal center B-cell-derived lymphomas. Secondary changes have yet only been described in few of these lymphomas. Here, we performed array-comparative genomic hybridization and molecular inversion probe microarray analyses on DNA from 12 formalin-fixed paraffin-embedded and two fresh-frozen IRF4 translocation-positive lymphomas, which together with the previously published data on nine cases allowed the extension of copy number analyses to a total of 23 of these lymphomas. All except one case carried chromosomal imbalances, most frequently gains in Xq28, 11q22.3-qter, and 7q32.1-qter and losses in 6q13-16.1, 15q14-22.31, and 17p. No recurrent copy-neutral losses of heterozygosity were observed. TP53 point mutations were detected in three of six cases with loss of 17p. Overall this study unravels a recurrent pattern of ...
Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from 16 laboratorie
Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when the translocation results in gene interruption. However, these people are at risk of production of unbalanced gametes during meiosis, as a result of various forms of chromosome segregation. This may cause infertility, non-implantation of the embryo, shorter embryo or foetus survival, as well as congenital defects and developmental disorders in children after birth. The increasing popularity of cytogenetic molecular techniques, such as microarray-based CGH (aCGH), contributed to the improved detection of chromosomal abnormalities in patients with intellectual disability, however, these modern techniques do not allow the identification of the balanced in potential carriers. Therefore, classical chromosome analysis with GTG technique still plays an important role in the
Hi there, I am researching chromosome 2 fusion theory. The theory that chromosome 2 and 3 was fused by a Robertsonian Translocation in two human-chimp common ancestors which mated giving us our chromosome 2 and 46 chromosomes instead of the other higher primates 48.. I was attempting to understand what the odds of this occurring were, to which end I want to know the odds that a chimp baby will be born with this mutation. I understand that 1 in 1000 human babies are born with a Robertsonian Translocation, is it the same for chimps?. ...
Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal ...
This study demonstrates, with empirical evidence that experimental translocation leads to changes in the stress physiology of birds handled in a manner typical of many conservation activities. Furthermore, the effects of the progressive sequence of capture, handling, transport, captivity and release to a new location seem to be additive, meaning that the sequence of acute stressors typically associated with the process of translocation causes meaningful physiological stress in birds. Translocated chukar had decreased baseline CORT concentrations, a reduced capacity to mount a CORT response to an acute stressor, a decreased sensitivity to negative feedback and significant weight loss.. Interestingly, days elapsed prior to recapture was not associated with the magnitude of these changes, indicating that the changes to HPA function occurred quickly and persisted beyond the cessation of exposure to translocation-associated acute stressors. Unfortunately, our study did not allow follow-up beyond ...
Background: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocatio...
A Robertsonian translocation is a chromosomal abnormality that generally doesnt cause health problems. However, it can affect pregnancy, especially when it results in a fetus with a genetic condition that is incompatible with life. Well tell you what you can do if you have or suspect you have this translocation.
Background: A long-term occupational exposure of healthcare staff to cytostatics and ionizing radiation is associated with a possible manifestation of their genotoxic, carcinogenic and teratogenic effects. Material and methods: A total number of 101 employees working with cytostatics or ionizing radiation were examined (some of them repeatedly) in a cancer treatment facility. The control group consisted of 118 persons excluded from the risk exposure. Fluorescence in situ hybridization with three pairs of whole-chromosomal probes and a pancrossomeric probe was used and the translocation frequency was determined. Results: The total number of chromosomal rearrangements of healthcare professionals and control group correlates with age. Taking into account the age dependence, an increased level of chromosomal reconstruction was found in the case of 11 individuals, 10 of which were female, working on the positions of pharmacist, general nurse, physician. Nine of those case involved the work with ...
This study is a case-control study of incident childhood leukemia (all subtypes) diagnosed since mid-1995. Children newly diagnosed with leukemia are enrolled in the study. Criteria for inclusion in the study are: under 15 years of age, no prior cancer diagnosis, residency in the state of California at the time of diagnosis, and availability of an English or Spanish speaking parent or guardian. Pre-treatment biological specimens, including bone marrow and peripheral blood, are obtained for analysis in the UCB lab of Dr M. Smith. The lab will use Fluorescence In Situ Hybridization (FISH) to detect chromosome specific aneuploidy and translocations. A number of chromosomal translocations, including t(9;22) and t(8;21), are known to be centrally involved in the development of childhood leukemia. Molecular characterization of the cases with translocations may provide insight into the timing of critical exposures and the nature of the etiological agent involved.. One comparison subject (control) is ...
Malignant lymphomas are classified based on morphology, immunophenotype, genetics and clinical features. The pathological diagnosis is generally considered difficult and prone to mistakes. Since non-random chromosomal translocations are specifically involved in specific entities, their detection is an important adjunct for increasing the reliability of the diagnosis. Recently, split-signal fluorescent in situ hybridization (FISH) has become available as a robust method to detect chromosomal breaks in paraffin embedded formalin fixed tissues. A bright field approach would bring this technology within the reach of every laboratory of pathology. Our study was initiated to prove consistency between chromogenic in situ hybridization (DuoCISH) and FISH, both using split signal probes developed for the detection of chromosomal breaks. 540 cases of 11 lymphoma entities and reactive, benign lymphoid tissues, collected from 8 different laboratories of pathology, placed on 15 FISH pre-stained tissue micro ...
This phase II MATCH trial studies how well treatment that is directed by genetic testing works in patients with solid tumors or lymphomas that have progressed following at least one line of standard treatment or for which no agreed upon treatment approach exists. Genetic tests look at the unique genetic material (genes) of patients tumor cells. Patients with genetic abnormalities (such as mutations, amplifications, or translocations) may benefit more from treatment which targets their tumors particular genetic abnormality. Identifying these genetic abnormalities first may help doctors plan better treatment for patients with solid tumors, lymphomas, or multiple myeloma ...
A very specific translocation causes Burkitts lymphoma, a cancer that plagues children in equatorial Africa. It involves a DNA break in an immune system antibody gene and the much more rare break in a cancer-promoting gene called c-myc. Previous work had shown that AID was responsible for breaking antibody genes but not c-myc. In fact, scientists thought a host of other factors might be involved in the c-myc break, but AID had been all but ruled out.. Despite the prior studies, Davide Robbiani, a research associate in Nussenzweigs lab and a Leukemia and Lymphoma Society Fellow, believed AID was the culprit. To prove it, he and his colleagues started by deleting the promoter region of the c-myc oncogene, rendering the gene inactive, in a mutant line of mice. By looking for -- and not finding -- the specific translocation in these mice, he showed that c-myc had to be active in order for its DNA break to take place.. He then inserted a DNA tag into the mouse genome that allowed him to induce a ...
Aims: The object of the present study was to develop a novel multiplex reverse transcription-polymerase chain reaction (RT-PCR)-based assay to detect four common recurrent chromosomal translocations t(9;22)(q34;q11), t(15;17)(q22;q12), t(8;21)(q22;q22), and t(1;19)(q23;q13). Results: This novel multiplex RT-PCR method can specifically detect these six positive plasmids with known transcripts, and the sensitivities ...
Research Interests. Genetic aberrations are important indicators of prognosis in acute lymphoblastic leukaemia (ALL) and are widely used in risk stratification. Translocations involving the immunoglobulin heavy chain locus (IGH) are hallmarks of mature B-cell malignancies, where they drive pathogenesis. IGH translocations have been described in B-cell precursor ALL (BCP-ALL), where they target different genes with the same consequence; the partner gene is overexpressed as a result of its close proximity to the IGH enhancer. We have previously reported recurrent BCP-ALL translocation partner genes including five members of the CCAAT/enhancer binding protein (CEBP) family of transcription factors, showing opposing functions for deregulation in myeloid and lymphoid leukemogenesis; the inhibitory transcription factor, ID4, in the translocation, t(6;14)(p22;q32), defining a subgroup characterized by deletion of CDKN2A/B and PAX; the cytokine receptor for erythropoietin (EPOR) at 19p13; type I ...
Notch homolog 1, translocation-associated (Drosophila), also known as NOTCH1, is a human gene encoding a single-pass transmembrane receptor.
In this application, we propose to elucidate the molecular function of ATM in suppression of oncogenic translocations in developing lymphocytes and generate nov...
The chromosomal translocation t(1;19)(q23;p13) and its variant form der(19)t(1;19) found in 3-5% of acute lymphoblastic leukemia (ALL) results in the expression of the E2A-PBX1 fusion transcript. Although strongly associated with a pre-B immunophenotype, we report the occurrence of t(1;19) in bone m …
In this study, we have reported a means to specifically prevent p42/p44MAPK nuclear translocation without affecting its activation. Different methods can theoretically be used to achieve the blockage of MAPK nuclear translocation. The one we employed here was to create an artificial anchor for MAPK based on two criteria: a specific interaction with MAPK and a cytoplasmic localization. Several proteins could possibly fulfil the criteria to create a cytoplasmic anchor for MAPK. For instance, the activator of MAPK, MKK1, is a cytoplasmic protein that also binds specifically to MAPK (Bardwell et al., 1996; Fukuda et al., 1997) and has therefore been proposed to play the role of an MAPK anchor in vivo (Fukuda et al., 1997). Moreover expression of MKK1 in Xenopus has been shown to impair MAPK nuclear translocation (Fukuda et al., 1997). However, in our fibroblast CCL39 cell line, the ability of MKK1 expression to prevent MAPK nuclear translocation was much weaker than that of inactive MKP‐3. This ...
STAU1 - STAU1 (untagged)-Human staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T1 available for purchase from OriGene - Your Gene Company.
does anyone have any information about the translocation of these two chromosomes? it seems to be a partial translocation only two thirds of each was translocated. any info on viability of a fetus would be greatly appreciated thank-you very much ...
Induction of t(11;14) IgH enhancer/promoter-cyclin D1 gene translocation using CRISPR/Cas9. Tsuyama N, Abe Y, Yanagi A, Yanai Y, Sugai M, Katafuchi A, Kawamura F, Kamiya K, Sakai A. Oncol Lett. 2019 Jul;18(1):275-282. doi: 10.3892/ol.2019.10303. Epub 2019 May 2. ...
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
The term translocation is used when the location of specific chromosome material changes. There are two main types of translocations: reciprocal and Robertsonian
The FATE gene maps to Xq28 where one case of a translocation breakpoint has been found in an infertile man. Moreover, the FATE promoter contains a putative SF-1-binding site, and F
The Summative Study of the Nano Mini-exhibition took place during the spring and summer of 2012. After being observed during their Mini-exhibition experience, 455 visitors across six different partner institutions participated in surveys and interviews with NISE Net evaluation team ...
TY - JOUR. T1 - Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11)(p15;p15) in human myeloid leukaemia. AU - Nakamura, Takuro. AU - Largaespada, David A.. AU - Lee, Maxwell P.. AU - Johnson, Laura A.. AU - Ohyashiki, Kazuma. AU - Toyama, Keisuke. AU - Chen, Sai Juan. AU - Willman, Cheryl L.. AU - Chen, I. Ming. AU - Feinberg, Andrew P.. AU - Jenkins, Nancy A.. AU - Copeland, Neal G.. AU - Shaughnessy, John D.. N1 - Copyright: Copyright 2007 Elsevier B.V., All rights reserved.. PY - 1996/2. Y1 - 1996/2. N2 - Expression of Hoxa7 and Hoxa9 is activated by proviral integration in BXH2 murine myeloid leukaemias. This result, combined with the mapping of the HOXA locus to human chromosome 7p15, suggested that one of the HOXA genes might be involved in the t(7;11)(p15;p15) translocation found in some human myeloid leukaemia patients. Here we show that in three patients with t(7;11), the chromosome rearrangement creates a genomic fusion between the HOXA9 gene and the ...
Clinical features in patients with segmental aneuploidy often vary depending on the size of the chromosomal segment involved. Monosomy 2p is usually observed as a part of more complex syndromes among probands of balanced reciprocal translocation carriers. Patients with dup4q syndrome have variable clinical features, which are both related to the size of duplicated segment of the 4q and specific associated monosomy. Clinical findings of our patient were compatible with those previously reported in dup4q and del2p patients. Herein are presented the clinical and cytogenetic findings in a 4-year-old female with an unbalanced karyotype 46,XX,der(2)t(2;4)(p25.1;q31.3)pat. Clinical phenotypes of 2p;4q translocation cases are variable, because the involved breakpoints vary case-by-case. We also compare similarity of the clinical features of our proband and other patients carrying either duplication of the distal part of 4q and patients carrying a deletion of distal part of 2p as described in the ...
ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthermore, while there have been unique patterns of amplification noted among the NUP214-ABL fusion genes, there have been few such reports among cases with BCR-ABL fusion genes. Here we report a unique case of a 44-year old patient with T-ALL in which the blasts demonstrated a derivative chromosome 9 involving a 9;22 translocation and a dicentric Philadelphia chromosome 22 with a homogeneously staining region at the interface of the 9;22 translocation, leading to BCR-ABL1 gene amplification. Fluorescence in-situ hybridization (FISH) showed abnormal BCR/ABL1 fusions with the BCR-ABL1 gene amplification in 48% of the interphase cells analyzed. The translocation was confirmed by SNP array. We present a novel derivative chromosome 9 that shows BCR-ABL gene fusion along with a dicentric Philadelphia
INTRODUCTION Acute myeloid leukemias with MLL rearrangements are frequently associated with myelomonocytic and monoblastic/monocytic morphology, with an increased risk of leukocytosis and leukostasis-related complications. Yet, little is known regarding the clinical presentation of adult AML patients with MLL translocations based on the specific translocation partner. PATIENTS AND METHODS Two recent AML cases with t(10;11)(p12;q23) translocations are detailed, with their shared presenting symptoms highlighted, followed by a review of the current literature. RESULTS The specific t(10;11)(p12;q23) MLL translocation is a rare recurrent translocation partner, most commonly seen in pediatric and young adult AML. A high incidence of early morbidity from leukocytosis-related complications are frequently seen, including diffuse intravascular coagulation and tumor lysis syndrome with multiorgan system failure, even without a true leukocytosis. CONCLUSION With prompt therapy and intensive supportive care
Nonhomologous end-joining (NHEJ) repairs DNA double-strand breaks (DSBs) during V(D)J recombination in developing lymphocytes and during immunoglobulin (Ig) heavy chain (IgH) class switch recombination (CSR) in peripheral B lymphocytes. We now show that CD21-cre-mediated deletion of the Xrcc4 NHEJ gene in p53-deficient peripheral B cells leads to recurrent surface Ig-negative B lymphomas (CXP lymphomas). Remarkably, CXP lymphomas arise from peripheral B cells that had attempted both receptor editing (secondary V[D]J recombination of Igκ and Igλ light chain genes) and IgH CSR subsequent to Xrcc4 deletion. Correspondingly, CXP tumors frequently harbored a CSR-based reciprocal chromosomal translocation that fused IgH to c-myc, as well as large chromosomal deletions or translocations involving Igκ or Igλ, with the latter fusing Igλ to oncogenes or to IgH. Our findings reveal peripheral B cells that have undergone both editing and CSR and show them to be common progenitors of CXP tumors. Our ...
Genotype-phenotype correlations for chromosomal imbalances are often limited by overlapping effects of partial trisomy and monosomy resulting from unbalanced translocations and by poor resolution of banding analysis for breakpoint designation. Here we report the clinical features of isolated partial trisomy 7q21.2 to 7q31.31 without overlapping phenotypic effects of partial monosomy in an 8 years old girl. The breakpoints of the unbalanced rearranged chromosome 7 could be defined precisely by array-CGH and a further imbalance could be excluded. The breakpoints of the balanced rearranged chromosomes 9 and 10 were identified by microdissection of fluorescence labelled derivative chromosomes 9 and 10. The probands mother showed a complex balanced translocation t(9;10)(p13;q23) with insertion of 7q21.2-31.31 at the translocation breakpoint at 9p13. The daughter inherited the rearranged chromosomes 9 and 10 but the normal chromosome 7 from her mother, resulting in partial trisomy 7q21.2 to 7q31.31. The
The truncated chromosome 22 that results from the reciprocal translocation t(9;22)(q34;q11) is known as the Philadelphia chromosome (Ph) and is a hallmark of chronic myeloid leukemia (CML). In leukemia cells, Ph not only impairs the physiological signaling pathways but also disrupts genomic stability. This aberrant fusion gene encodes the breakpoint cluster region-proto-oncogene tyrosine-protein kinase (BCR-ABL1) oncogenic protein with persistently enhanced tyrosine kinase activity. The kinase activity is responsible for maintaining proliferation, inhibiting differentiation, and conferring resistance to cell death. During the progression of CML from the chronic phase to the accelerated phase and then to the blast phase, the expression patterns of different BCR-ABL1 transcripts vary. Each BCR-ABL1 transcript is present in a distinct leukemia phenotype, which predicts both response to therapy and clinical outcome. Besides CML, the Ph is found in acute lymphoblastic leukemia, acute myeloid leukemia, and
TY - JOUR. T1 - Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development. AU - Morton, Lindsay M.. AU - Purdue, Mark P.. AU - Zheng, Tongzhang. AU - Wang, Sophia S.. AU - Armstrong, Bruce. AU - Zhang, Yawei. AU - Menashe, Idan. AU - Chatterjee, Nilanjan. AU - Davis, Scott. AU - Lan, Qing. AU - Vajdic, Claire M.. AU - Severson, Richard K.. AU - Holford, Theodore R.. AU - Kricker, Anne. AU - Cerhan, James R.. AU - Leaderer, Brian. AU - Grulich, Andrew. AU - Yeager, Meredith. AU - Cozen, Wendy. AU - Zahm, Shelia Hoar. AU - Chanock, Stephen J.. AU - Rothman, Nathaniel. AU - Hartge, Patricia. PY - 2009/4/1. Y1 - 2009/4/1. N2 - Chromosomal translocations are the hallmark genetic aberration in non-Hodgkin lymphoma (NHL), with specific translocations often selectively associated with specific NHL subtypes. Because many NHL-associated translocations involve cell cycle, apoptosis, and lymphocyte development regulatory ...
TY - JOUR. T1 - A stochastic model for DNA translocation through an electropore. AU - Yu, Miao. AU - Tan, Wenchang. AU - Lin, Hao. N1 - Funding Information: The authors acknowledge funding support from an NSF Award CBET-0747886 with Dr. William Schultz and Dr. Henning Winter as contract monitors. PY - 2012/11. Y1 - 2012/11. N2 - A 1D Fokker-Planck simulation of DNA translocation through an electropore under finite pulses is presented. This study is motivated by applications relevant to DNA electrotransfer into biological cells via electroporation. The results review important insights. The translocation may occur on two disparate time scales, the electrophoretic time (~ ms), and the diffusive time (~ s), depending on the pulse length. Furthermore, a power-law correlation is observed, F-PST ~ (Vmtp)a/Nb, where F-PST is the final probability of successful translocation, Vm is the transmembrane potential, tp is the pulse length, and N is the DNA length in segments. The values for a and b are close ...
TY - JOUR. T1 - Human ERG is a proto-oncogene with mitogenic and transforming activity. AU - Hart, A. H.. AU - Corrick, C. M.. AU - Tymms, M. J.. AU - Hertzog, P. J.. AU - Kola, I.. PY - 1995/1/1. Y1 - 1995/1/1. N2 - The ETS related gene, ERG, is one of 20 or more genes belonging to the ETS family of transcription factors. Translocation of the ERG gene t(21;22) results in the chimeric fusion transcript seen in approximately 10% of Ewings sarcomas. In addition, recent studies have shown that a reciprocal translocation t(21;16) of ERG gives rise to two aberrant transcripts seen in some forms of acute myeloid leukaemia. In vitro studies have linked the up regulation of ERG expression with stromal cell independence in erythroleukemic clones and shown that the ERG related genes ETS1 and ETS2 have a mitogenic and transforming activity when overexpressed in NIH3T3 cells. Interestingly ERGB/FLI-1, which is also involved in Ewings sarcoma translocations and shares a very high sequence identity with ERG ...
Definition : Molecular assay reagents intended for use in identifying exchanges (i.e., translocations) between chromosome 11 band q23 and chromosome 19 band p13.3, usually involving genes MLL and ENL, respectively. This translocation is present in patients with both acute lymphoblastic leukemia and acute nonlymphocytic leukemia (ALL and ANLL, respectively); most cases are found in infants (congenital leukemia). Its detection may be used as a tumor marker.. Entry Terms : Congenital Leukemia Diagnostic Reagents , Acute Non-Lymphocytic Leukemia Diagnostic Reagents , Acute Lymphoblastic Leukemia Diagnostic Reagents , Leukemia Diagnostic Reagents , Chromosome Translocation t(11;19)(q23p13.3) Detection Reagents , Reagents, Molecular Assay, Chromosome Anomaly, Translocation, t(11;19)(q23p13.3). UMDC code : 24056 ...
TY - JOUR. T1 - Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. AU - Stetten, G.. AU - Tuck-Muller, C. M.. AU - Blakemore, Karin. AU - Wong, C.. AU - Kazazian, Haig. AU - Antonarakis, S. E.. PY - 1990. Y1 - 1990. UR - http://www.scopus.com/inward/record.url?scp=0025670533&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0025670533&partnerID=8YFLogxK. M3 - Article. C2 - 2077349. AN - SCOPUS:0025670533. VL - 7. SP - 479. EP - 484. JO - Molecular Biology and Medicine. JF - Molecular Biology and Medicine. SN - 0735-1313. IS - 6. ER - ...
There is a long and growing list of gene translocation events that are linked to cancer. Whether the result of intra- or interchromosomal exchanges, these translocations commonly involve genes encoding a kinase or a transcription factor. The resulting fusion genes are often the principal drivers of tumorigenesis and therefore serve as diagnostic markers and/or targets for specific therapies (e.g., kinase inhibitors). Fusion mRNAs from translocation events can be detected by highly sensitive methodologies based on polymerase chain reaction (PCR); however, these approaches can be frustrated by the fact that a particular target gene may be fused to any of more than a dozen different partner genes, requiring numerous primers to cover all possible fusion events. In contrast, FISH can detect a translocation-related break in a target gene irrespective of which partner gene has been fused to it. This is done by labeling two pools of probes with different fluorophores; for example, one pool may be ...
Double strand breaks in DNA are the initiating lesion for the translocation events that underlie the genome instability that causes cancer. However, the three dimensional organisation of the genetic material within the nucleus also influences the outcome of translocations because proximity of DNA strands increases the risk of their inappropriate joining. DNA replication has a dramatic effect both on break formation and on 3D nuclear organisation, but its roles in oncogenic translocations are undefined.. My group has a longstanding interest in DNA replication and its regulation. We have recently developed new techniques (Repli3C, Repli4C and Repli-C) to analyse the changes in genome organisation that accompany DNA replication. These methodologies are similar to the existing techniques of chromosome conformation capture (3C, 4C, Hi-C) but with the addition of EdU incorporation and affinity purification to enrich for newly replicated regions. In this project we will optimise and refine these ...
Translocation t(8;16)(p11;p13) is found in 6.5% of acute myeloid leukemias (AML) of the M4/M5 FAB subtype. These poor prognosis AML are associated with erythrophagocytosis in blast cells. The translocation fuses MYST3/MOZ on chromosome region 8p11, which encodes a histone acetyltransferase (HAT), to CBP/CREBBP on chromosome region 16p13, which encodes a transcriptional co-activator and acetyltransferase. 1-4 Reverse transcriptase-polymerase chain reaction (RT-PCR) identified three types of MYST3-CBP and CBP-MYST3 fusion transcripts in some previous studies,1-7 but was unsuccessful in some others suggesting the existence of translocation variants.1,8,9 We describe here two new types of MYST3-CBP fusion transcripts.. Patient #1, a 55-year old female presented with AML-M5a 2 years after breast cancer. The white blood cell (WBC) count was 2.9×109/L with 17% blast cells. The bone marrow aspirate was hypercellular with 90% of monocytic blast cells with features of erythrophagocytosis. The karyotype ...
TY - JOUR. T1 - Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication. AU - Horbinski, Craig. AU - Carter, Erika M.. AU - Heard, Patricia L.. AU - Sathanoori, Malini. AU - Hu, Jie. AU - Vockley, Jerry. AU - Gunn, Shelly. AU - Hale, Daniel. AU - Surti, Urvashi. AU - Cody, Jannine D.. PY - 2008/11/15. Y1 - 2008/11/15. N2 - Recurrent constitutional non-Robertsonian translocations are very rare. We present the third instance of cryptic, unbalanced translocation between 4q and 18q. This individual had an apparently normal karyotype; however, after subtelomere fluorescence in situ hybridization (FISH), he was found to have a cryptic unbalanced translocation between 4q and 18q [ish der(18)t(4;18)(q35;q23) (4qtel+, 18qtel-)]. Oligonucleotide array comparative genomic hybridization (aCGH) refined the breakpoints in this child and in the previously reported child and indicated that the breakpoints were within 20 kb of each ...
Synovial sarcoma is an aggressive soft tissue tumor characterized by a specific chromosomal translocation between chromosome 18 and X. This translocation can generate a fusion transcript encoding SYT-SSX1, a transforming oncoprotein. We present evidence that SYT-SSX1 induces insulin-like growth fact …
Aside: On Collagen Pages 601-602. Just a word about the protein collagen, which may form more that 50% by weight of certain tissues in your body. This is an extracellular fibrillar polymer, which has some similar functions to cellulose in plants, but which is built of protein (not polysaccharide).. The textbook tells you some neat things about this molecule, which is neat especially if you are , for example, double-jointed. The textbook does not tell you of the relevance to collagen to our present topic.. Collagen differs from other most other proteins, but is similar to a few others like keratin and elastin, because it contains two modified amino acids (hydroxyproline and hydroxylysine). Both of these amino acids are coded normally on the rough ER, as proline and lysine BUT as they are transferred to the ER, some of these amino acids are hydroxylated by an enzyme which is part of the translocation machinery in the ER membrane.. So, it is important to understand that translocation may also ...
Children with Down syndrome (DS) have a markedly increased risk of acute lymphoblastic and myeloid leukemias (ALL+AML). To identify chromosomal changes cooperating with +21 that may provide information on the pathogenesis of these leukemias, we analyzed 215 DS-ALL and 189 DS-AML. Unlike previous smaller series, a significant proportion of DS-ALL had the typical B-cell precursor ALL abnormalities high hyperdiploidy (HeH; 11%) and t(12;21)(p13;q22) (10%). The HeH DS-ALL were characterized by gains of the same chromosomes as non-DS-HeH, suggesting the same etiology/pathogenesis. In addition, specific genetic subtypes of DS-ALL were suggested by the significant overrepresentation of cases with +X, t(8;14)(q11;q32), and del(9p). Unlike DS-ALL, the common translocations associated with non-DS-AML were rare in DS-AML, which instead were characterized by the frequent presence of dup(1q), del(6q), del(7p), dup(7q), +8, +11, del(16q), and +21. This series of DS leukemias - the largest to date - reveals ...
The JNK signaling pathway is activated when cells such as neurons are exposed to environmental stress. The JIP proteins are likely to act in this pathway because they bind to JNK, as well as to upstream activators of JNK. A report from Whitmarsh et al. now strengthens the argument that JIPs are scaffolding proteins that coordinate the formation of a JNK-activating module. JIP1 localized to the cell body and to the growth-cone tips of extended neurites in unstimulated murine hippocampal neurons, but upon exposure to various stress stimuli, JIP1 relocalized to the perinuclear region where activated JNK was also found. Neurons from a JIP1-null mouse did not demonstrate stress-induced JNK activation or apoptosis, demonstrating that JIP is required for JNK activation in vivo. Because JIP1 was isolated in a complex with kinesin from mouse brain tissue, the authors speculate that JIP translocation may involve cellular motor proteins. Such a transport mechanism may facilitate signal transduction from ...
The transcription factor RUNX1/AML1 is an important regulator of hematopoiesis and RUNX1 gene is one of the most frequent target of chromosomal translocations in cells of the myeloid lineage [1]. Interestingly, the RUNX1 gene covers 260 kbp of chromosome 21 but surprisingly, all genomic breakpoints for the leukemia causing translocations (8; 21) and (16;21) are found in intron 5 of the gene [2]. Presently, factors involved in maintaining the structural integrity and/or enhancing susceptibility of these regions to undergo recombination are unknown. Moreover, the breakpoint junctions are devoid of common DNA motifs that can explain the high recombination frequency observed. Interestingly however, topoisomerase II and DNase I hypersensitive sites have been found to correlate with breakpoints suggesting that chromatin organization may be responsible for, or contribute to, chromosomal translocation formation [3, 4]. DNA regions that exhibit DNase I hypersensitivity have been extensively associated ...
This software draws an image for one chromosomal rearrangement.. Enter the description of ONE rearrangement (in numbers: 1; it is exactly 1, not 2, not 3!) giving raise to one or more derivative chromosome(s) in the text field below, select the desired map viewer with which chromosomal bands are to be linked, banding resolution and color style, then click Draw. The CyDAS software will then compute an image map containing the ideogram(s) of the derivative chromosome, with links to the NCBI or Ensembl map viewer.. It is absolutely indispensible that break points are specified; denoting them at a lower resolution than the resolution for the image may yield inconsistencies. Ring chromosomes are shown linearized.. Hint: a complete karyogram can be drawn with the example program #4.. ...
Introduction: EWS-FLI1 and related chromosomal translocations are prevalent in Ewing sarcoma and play a major role in modulating oncogenic transcription. Development of drugs that affect EWS-FLI1 oncoprotein function may lead to successful treatment for these patients. Mithramycin (MTM) was shown to inhibit transcriptional targets of EWS-FLI1, but it has a narrow therapeutic window attributed to its nonspecific toxicities. To overcome this, semisynthetic methods were developed to generate MTM analogs with unique pharmacologic properties. Mechanistic and pharmacologic studies are presented here.. Methods: Studies were conducted using MTM and lead analogs (mithramycin-SK (MTM-SK), mithramycin-SA-tryptophan (MTM-SA-Trp), and mithramycin-SA-phenylalanine (MTM-SA-Phe)). EWS-FLI1 promoter occupancy was investigated using chromatin immunoprecipitation real-time PCR (ChIP-RTPCR). The effect of drug treatment on expression of genes controlled by EWS-FLI1 was evaluated by quantitative real-time PCR ...
TY - JOUR. T1 - Translocation t(1;19)(q23;p13) in adult acute lymphoblastic leukemia-a distinct subtype with favorable prognosis. AU - Yilmaz, Musa. AU - Kantarjian, Hagop M.. AU - Toruner, Gokce. AU - Yin, C. Cameron. AU - Kanagal-Shamanna, Rashmi. AU - Cortes, Jorge E.. AU - Issa, Ghayyas. AU - Short, Nicholas J.. AU - Khoury, Joseph D.. AU - Garcia-Manero, Guillermo. AU - Ravandi, Farhad. AU - Kadia, Tapan. AU - Konopleva, Marina. AU - Wierda, William G.. AU - Jain, Nitin. AU - Estrov, Zeev. AU - Sasaki, Koji. AU - Pierce, Sherry. AU - OBrien, Susan M.. AU - Jabbour, Elias J.. PY - 2020. Y1 - 2020. N2 - The recurring translocation t(1;19) (q23;p13) with TCF3-PBX1 rearrangements are uncommon in adult acute lymphoblastic leukemia (ALL), and their prognostic impact remains to be described in the era of modern chemotherapies. We investigated 427 adult patients with newly diagnosed pre-B ALL, 16 (4%) had t(1;19)(q23;p13) at diagnosis. All 16 patients achieved complete remission after induction ...
MNX1 is a homeodomain containing transcription factor that has been implicated in the development of a number of human diseases. Loss of function mutations of MNX1 were identified as the primary cause of the rare inherited Currarino syndrome, which includes the development of sacral masses, often teratomas. In one fourth of infant acute myeloid leukaemia (AML) cases the gene is involved in a t(7;12) translocation. In most cases, the translocation leads to the fusion of MNX1 with ETV6 (located on chromosome 12). In other cases, the breakpoint on chromosome 7 is centromeric to the MNX1 locus, but involves a concomitant deletion of the distal portion of chromosome 7q, including MNX1. Thus, a common feature of the chromosome 7 aberration is the inactivation of one copy of MNX1. Furthermore, the MNX1 promoter is frequently hypermethylated, and transcriptionally inactivated, in childhood and adult acute lymphoblastic leukaemia (ALL) (33% of childhood and 39% of adult cases). The present work ...
Homeobox protein Hox-A9 is a protein that in humans is encoded by the HOXA9 gene. In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila fly. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. As HOXA9 dysfunction has been implicated in acute myeloid leukemia, and expression of the gene has been shown to differ markedly between erythrocyte lineages of different stages of development, the gene is of particular interest from a hematopoietic perspective. As HOXA9 is ...
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
OBJECTIVE: The Philadelphia (Ph) chromosome, consisting of the t(9;22)(q34;q11) translocation, is observed in ~90% of patients with chronic myeloid leukemia (CML). Variant Ph translocations are observed in 5%-10% of CML patients. In variant translocations 3 and possibly more chromosomes are involved. Herein we report 6 CML patients with variant Ph translocations.METHODS: Bone marrow samples were examined using conventional cytogenetic meth ods. Fluorescence in situ hybridization (FISH) with whole-chromosome paints and BCR-ABL 1D probes were used to confirm and/or complement the findings, and identify rearrangements beyond the resolution of conventional cytogenetic methods. RESULTS: Variant Ph translocations in the 6 patients were as follows: t(7;22)(p22;q11), t(9;22;15)(q34;q11;q22), t(15;22)(p11;q11), t(1;9;22;3)(q24;q34;q11;q21), t(12;22)(p13;q11), and t(4;8;9;22)(q11;q13;q34;q11).CONCLUSION: Among the patients, 3 had simple and 3 had complex variant Ph translocations. Two of the presented ...
Intra-cellular and inter-cellular protein translocation can be observed by microscopic imaging of tissue sections prepared immunohistochemically. A manual densitometric analysis is time-consuming, subjective and error-prone. An automated quantification is faster, more reproducible, and should yield results comparable to manual evaluation. The automated method presented here was developed on rat liver tissue sections to study the translocation of bile salt transport proteins in hepatocytes. For validation, the cholestatic liver state was compared to the normal biological state. An automated quantification method was developed to analyze the translocation of membrane proteins and evaluated in comparison to an established manual method. Firstly, regions of interest (membrane fragments) are identified in confocal microscopy images. Further, densitometric intensity profiles are extracted orthogonally to membrane fragments, following the direction from the plasma membrane to cytoplasm. Finally, several
Burkitt lymphoma (BL) is the most common B-cell lymphoma in children. Within the International Cancer Genome Consortium (ICGC), we performed whole genome and transcriptome sequencing of 39 sporadic BL. Here, we unravel interaction of structural, mutational, and transcriptional changes, which contribute to MYC oncogene dysregulation together with the pathognomonic IG-MYC translocation. Moreover, by mapping IGH translocation breakpoints, we provide evidence that the precursor of at least a subset of BL is a B-cell poised to express IGHA. We describe the landscape of mutations, structural variants, and mutational processes, and identified a series of driver genes in the pathogenesis of BL, which can be targeted by various mechanisms, including IG-non MYC translocations, germline and somatic mutations, fusion transcripts, and alternative splicing ...
Burkitt lymphoma (BL) is the most common B-cell lymphoma in children. Within the International Cancer Genome Consortium (ICGC), we performed whole genome and transcriptome sequencing of 39 sporadic BL. Here, we unravel interaction of structural, mutational, and transcriptional changes, which contribute to MYC oncogene dysregulation together with the pathognomonic IG-MYC translocation. Moreover, by mapping IGH translocation breakpoints, we provide evidence that the precursor of at least a subset of BL is a B-cell poised to express IGHA. We describe the landscape of mutations, structural variants, and mutational processes, and identified a series of driver genes in the pathogenesis of BL, which can be targeted by various mechanisms, including IG-non MYC translocations, germline and somatic mutations, fusion transcripts, and alternative splicing ...
in Cancer Genetics & Cytogenetics (2006), 166(1), 1-11. Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Francais de Cytogenetique Hematologique collected a series of 107 patients ... [more ▼]. Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Francais de Cytogenetique Hematologique collected a series of 107 patients with various hematologic disorders and acquired structural abnormalities of the long arm of chromosome 21. The abnormalities were subclassified into 10 groups, according to the location of the 21q breakpoint and the type of abnormality. Band 21q22 was implicated in 72 patients (excluding duplications, triplications, and amplifications). The involvement of the RUNX1 gene was confirmed in 10 novel translocations, but the gene partners were not identified. Eleven novel translocations rearranging band 21q22 with hands 1q25, ...
Most of the time, Down syndrome isnt inherited. Its caused by a mistake in cell division during early development of the fetus.. Translocation Down syndrome can be passed from parent to child. However, only about 3 to 4 percent of children with Down syndrome have translocation and only some of them inherited it from one of their parents.. When balanced translocations are inherited, the mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children.. ...
After a fairly normal and easy labor and delivery, Cal made his debut! He wasnt breathing well on his own and needed respiratory support. Because we knew he might be born with some abnormalities, we had lots of doctors ready to care for him right when he was born. A heart echo was one of the things they did right away, and the results came back showing quite a few defects with his little heart. At that point it was pretty clear he had the unbalanced chromosome translocation, but the microarray test results confirming this would take over a week to get back ...
Researchers at the UC San Diego School of Medicine have pinpointed a mechanism that may help explain how chromosomal translocations - the supposedly random shuffling of large chunks of DNA that frequently lead to cancer - arent so random after all. They have developed a model of such chromosomal mix-ups in prostate cancer which indicates that the male sex hormone (androgen) receptor unexpectedly plays a key role in driving specific translocations in the development of cancer.
The data presented in this study demonstrate that activation of PKC-ε on stimulation of the A1R in the rat or mouse heart elicits the translocation of the kinase to a RACK2 protein of the cardiomyocyte. Previously, we reported A1R activation promotes the translocation of PKC-ε, but not PKC-δ, to the t-tubules of the cardiomyocyte (30). The present data indicate that RACK2 was the target protein for this translocation. Our present observations include the measurement of contractile activity of isolated cardiomyocytes and the visualization with imaging (rat) and coimmunoprecipitation of the kinase and RACK2 (rat and mouse). Translocation of PKC-ε to RACK2 occurred whether the PKC-ε was activated nonspecifically by a phorbol ester, or by A1R activation with PIA, or with the selective agonist CCPA. The action induced by CCPA was selective for the A1R, as indicated by the inhibition elicited by the A1R antagonist DPCPX. Furthermore, PKC-ε translocation most likely results from an A1R-induced ...
Fish strains: The AB strain (Chakrabartiet al. 1983) was used in the screens that identified cycb213 and cycb229. Other strains used to produce hybrids for mapping include DAR, Tü, and TL (Postlethwaitet al. 1994; Haffteret al. 1996).. Nomenclature: We followed previous linkage group designations (Postlethwaitet al. 1994; Johnsonet al. 1996). Each linkage group corresponds to a different chromosome because each has been assigned a centromere (Johnsonet al. 1996).. Following guidelines for Drosophila rearrangements, the b213 reciprocal translocation is described as T(LG2;LG12)b213, and the two elements of the translocation are termed T(LG2; LG12)b213, 2P12D (for the rearranged chromosome with the centromere-proximal segment of LG 2 and distal segment of LG 12) and T(LG2;LG12)b213, 12P2D. Segregation of these rearranged chromosomes and their normal order counterparts results in euploid and aneuploid meiotic products (see Figure 7). For convenience of discussion, we refer to the haploid genotype ...
Results: Positive for IgH/CCND1 fusion(19%). INTERPRETATION: There was no cytogentic evidence of an abnormal clone in this bone marrow specimen at this band level. However, adjunct FISH studies detected a rearrangement of the IgH region at 4q32 in 31% of the interphase cells from this specimen. Subsequent studies revealed variant IgH/CCND1 fusion in 19% of the cells analyzed. Specifically, there results are positive for a variant t(11;14). Additional studies were negative for a t(14;16), trisomies 9, 11, and 15 and for deletions of 6q21, 13q14, 13q34 and 17p13.1. ...
TEL is a transcriptional repressor containing a SAM domain that forms a helical polymer. In a number of hematologic malignancies, chromosomal translocations lead to aberrant fusions of TEL-SAM to a variety of other proteins, including many tyrosine kinases. TEL-SAM polymerization results in constitutive activation of the tyrosine kinase domains to which it becomes fused, leading to cell transformation. Thus, inhibitors of TEL-SAM self-association could abrogate transformation in these cells. In previous work, we determined the structure of a mutant TEL-SAM polymer bearing a Val to Glu substitution in center of the subunit interface. It remained unclear how much the mutation affected the architecture of the polymer, however. Here we determine the structure of the native polymer interface. To accomplish this goal, we introduced mutations that block polymer extension, producing a heterodimer with a wild-type interface. We find that the structure of the wild-type polymer interface is quite similar to the
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Labeled FISH probes for identification of gene translocation using Fluorescent In Situ Hybridization Technique. (Technology) (FT0011) - Products - Abnova
Blood 2016 128(22); 2685. Background: The chromosomal translocation t(7;11)(p15,p15) encodes the oncogenic transcription factor NUP98-HOXA9 which results in a fusion of the nucleoporin 98kDa (NUP98) and homeobox A9 (HOXA9) genes. The oncogenic mechanisms underlying this translocation remain poorly understood and patients are currently inadequately served by traditional cytotoxic chemotherapy regimens.. Aims:To decipher the underlying biology of the NUP98-HOXA9 fusion protein and develop rational therapeutic strategies targeting its oncogenic mechanism. Methods: Human cellular models expressing NUP98-HOXA9, HOXA9 wt or NUP98 wt were established by retroviral transduction of HEK293FT human cell line and human hematopoietic progenitors (CD34+, hHP) isolated from donor cord blood. Chromatin immunoprecepitation experiments followed by sequencing (ChIP-seq) and quantitative ChIP (qChIP) were used to define fusion specific binding locations. Cloning regulatory regions of selected target genes in a ...
IGH translocations induce up-regulation of different oncogenes order propecia 1 mg on line hair loss 6 months after giving birth, it is Learning Objectives possible that all IGH translocations involved in MM converge on a ● To understand that myeloma should no longer be considered common pathway that is essential in the pathogenesis of the disease as a single entity and cause the inhibition of differentiation and an increase in cell ● To understand that better tools for diagnosis and monitoring survival and proliferation order 5 mg propecia with visa hair loss in men quilters. Gene expression profiling (GEP) analysis treatment efficacy are being implemented has demonstrated that expression of the cyclin proteins (CCND1, ● To understand that the treatment goal is to find the best CCND2, and CCND3) is increased in almost all MM patients, possible balance among efficacy, toxicity, and cost supporting the hypothesis that there is a potential unifying event in its pathogenesis. The ...
What is the difference between Translocation and Crossing Over? Translocation occurs between non-homologous chromosomes while crossing over occurs between...
Translocation Down syndrome Translocation reciprocal or eucentric translocation (Figure A, right) is a two-break aberration that results in an exact in- terchange of chromosomal segments between two nonhomologous chromosomes and ...
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Data from 305 enrolled patients were available. The most common type of molecular testing was fluorescence in situ hybridization (FISH) performed on the primary tumor (236 of 305 patients; 77.4%), with positive testing for an EWSR1 or FUS translocation in 211 (89.4%). Reverse transcription-polymerase chain reaction (RT-PCR) on the primary tumor was performed in 61 of 305 (20%), with positive results in 48 of 61 patients (78.7%). Next-generation sequencing was reported in 7 patients on primary tumor and in 3 patients on metastatic sites. Evaluating all types of testing on either primary or metastatic tumor, 16 of 305 patients (5.2%) had no reported translocation testing. Evaluating all results from all testing, 44 of 305 patients (14.4%) lacked documentation of an abnormality consistent with a molecular diagnosis of Ewing sarcoma. ...
Maize B-A translocations result from reciprocal interchanges between a supernumerary B chromosome and an arm of an essential A chromosome. Because of the freque