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https://www.readbyqxmd.com/read/27030989/overexpression-and-biological-function-of-ubiquitin-specific-protease-42-in-gastric-cancer
#1
Kun Hou, Zhenya Zhu, Yong Wang, Chunhui Zhang, Shiyong Yu, Qi Zhu, Bo Yan
Ubiquitin-specific protease 42 (USP42) is a member of deubiquitinating enzymes (DUBs). The alterations of DUBs are implicated in the pathogenesis of a wide variety of tumors. However, there are few studies on the expression and biological function of USP42 in gastric cancer (GC). Here, the expression levels of USP42 were significantly higher in GC tissues than in non-tumorous tissues. USP42 expression was significantly correlated with tumor size, TNM stage, lymph node metastasis and overall survival of patients with GC...
2016: PloS One
https://www.readbyqxmd.com/read/25336640/ubiquitin-specific-peptidase-42-usp42-functions-to-deubiquitylate-histones-and-regulate-transcriptional-activity
#2
Andreas K Hock, Arnaud M Vigneron, Karen H Vousden
Ubiquitin-specific peptidase 42 (USP42) is a deubiquitylating enzyme that can target p53 and contribute to the stabilization of p53 in response to stress. We now show that USP42 can also regulate transcription independently of p53. USP42 co-localized with RNA polymerase II (RNA Pol II) in nuclear foci, bound to histone H2B, and deubiquitylated H2B. Depletion of USP42 increased H2B ubiquitylation at a model promoter and decreased both basal and induced transcription from a number of promoters. These results are consistent with a role for USP42 in regulating transcription by deubiquitylating histones...
December 12, 2014: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/25298786/5-runx1-3-usp42-chimeric-gene-in-acute-myeloid-leukemia-can-occur-through-an-insertion-mechanism-rather-than-translocation-and-may-be-mediated-by-genomic-segmental-duplications
#3
Antonella Zagaria, Luisa Anelli, Nicoletta Coccaro, Giuseppina Tota, Paola Casieri, Angelo Cellamare, Angela Minervini, Crescenzio Francesco Minervini, Claudia Brunetti, Cosimo Cumbo, Giorgina Specchia, Francesco Albano
BACKGROUND: The runt-related transcription factor 1 (RUNX1) gene is a transcription factor that acts as a master regulator of hematopoiesis and represents one of the most frequent targets of chromosomal rearrangements in human leukemias. The t(7;21)(p22;q22) rearrangement generating a 5'RUNX1-3'USP42 fusion transcript has been reported in two cases of pediatric acute myeloid leukemia (AML) and further in eight adult cases of myeloid neoplasms. We describe the first case of adult AML with a 5'RUNX1-3'USP42 fusion gene generated by an insertion event instead of chromosomal translocation...
2014: Molecular Cytogenetics
https://www.readbyqxmd.com/read/24646765/acute-myeloid-leukemia-with-t-7-21-p22-q22-and-5q-deletion-a-case-report-and-literature-review
#4
Jianling Ji, Eric Loo, Sheeja Pullarkat, Lynn Yang, Carlos A Tirado
The gene RUNX1 at chromosome 21q22 encodes the alpha subunit of Core binding factor (CBF), a heterodimeric transcription factor involved in the development of normal hematopoiesis. Translocations of RUNX1 are seen in several types of leukemia with at least 21 identified partner genes. The cryptic t(7;21)(p22;q22) rearrangement involving the USP42 gene appears to be a specific and recurrent cytogenetic abnormality. Eight of the 9 cases identified in the literature with this translocation were associated with acute myeloid leukemia (AML), with the remaining case showing refractory anemia with excess blasts, type 2...
2014: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/23877199/myeloid-leukemia-with-t-7-21-p22-q22-and-5q-deletion
#5
Ioannis Panagopoulos, Ludmila Gorunova, Petter Brandal, Margaret Garnes, Anne Tierens, Sverre Heim
The rare but recurrent RUNX1-USP42 fusion gene is the result of a t(7;21)(p22;q22) chromosomal translocation and has been described in 6 cases of acute myeloid leukemia (AML) and one case of refractory anemia with excess of blast. In the present study, we present the molecular genetic analysis and the clinical features of a t(7;21)(p22;q22)-positive AML case. PCR amplified two RUNX1-USP42 cDNA fragments but no reciprocal USP42-RUNX1 fragment indicating that the RUNX1-USP42 is the leukemogenic fusion gene. Sequencing of the two amplified fragments showed that exon 6 or exon 7 of RUNX1 (accession number NM_001754 version 3) was fused to exon 3 of USP42 (accession number NM_032172 version 2)...
October 2013: Oncology Reports
https://www.readbyqxmd.com/read/22867997/a-cytogenetic-study-of-397-consecutive-acute-myeloid-leukemia-cases-identified-three-with-a-t-7-21-associated-with-5q-abnormalities-and-exhibiting-similar-clinical-and-biological-features-suggesting-a-new-rare-acute-myeloid-leukemia-entity
#6
Eric Jeandidier, Carine Gervais, Isabelle Radford-Weiss, Estelle Zink, Catherine Gangneux, Alice Eischen, Anne Cécile Galoisy, Catherine Helias, Laurent Dano, Ornella Cammarata, Georges Jung, Inès Harzallah, Eric Guérin, Lionel Martzolff, Bernard Drénou, Bruno Lioure, Céline Tancrédi, Valérie Rimelen, Laurent Mauvieux
The RUNX1 gene is implicated in numerous chromosomal translocations that occur in acute myeloid leukemia (AML) and result in chimeric genes. In this study, 397 consecutive AML cases were analyzed using RUNX1 fluorescence in situ hybridization (FISH) probes. Three cases of the recently described translocation, t(7;21)(p22;q22), were identified, which expressed RUNX1-USP42 (ubiquitin-specific protease 42) fusion transcripts, associated with 5q abnormalities and hyperploidy. These cases displayed homogeneous morphological features (including phagocytosis) and aberrantly expressed CD56 and CD7 lymphoid antigens...
July 2012: Cancer Genetics
https://www.readbyqxmd.com/read/22085928/regulation-of-p53-stability-and-function-by-the-deubiquitinating-enzyme-usp42
#7
Andreas K Hock, Arnaud M Vigneron, Stephanie Carter, Robert L Ludwig, Karen H Vousden
The p53 tumour suppressor protein is a transcription factor that prevents oncogenic progression by activating the expression of apoptosis and cell-cycle arrest genes in stressed cells. The stability of p53 is tightly regulated by ubiquitin-dependent degradation, driven mainly by the ubiquitin ligase MDM2. In this study, we have identified USP42 as a DUB that interacts with and deubiquitinates p53. USP42 forms a direct complex with p53 and controls level of ubiquitination during the early phase of the response to a range of stress signals...
November 15, 2011: EMBO Journal
https://www.readbyqxmd.com/read/21319259/microhomologies-and-topoisomerase-ii-consensus-sequences-identified-near-the-breakpoint-junctions-of-the-recurrent-t-7-21-p22-q22-translocation-in-acute-myeloid-leukemia
#8
Amélie Giguère, Josée Hébert
RUNX1 rearrangements are common genetic abnormalities in acute leukemia. The t(7;21)(p22;q22) translocation, recently described in three cases of myeloid neoplasias, fuses the ubiquitin specific peptidase 42 gene, USP42, a member of the deubiquitinating enzyme family, to RUNX1. In this study, we characterized the semicryptic t(7;21)(p22;q22) translocation, identified by fluorescent in situ hybridization and spectral karyotyping, in a novel case of acute myeloid leukemia. Sequence analysis of the reverse transcription-polymerase chain reaction products confirmed the presence of two in-frame RUNX1-USP42 and one reciprocal in-frame USP42-RUNX1 fusion transcripts...
April 2011: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/21240971/microhomologies-and-topoisomerase-ii-consensus-sequences-identified-near-the-breakpoint-junctions-of-the-recurrent-t-7-21-p22-q22-translocation-in-acute-myeloid-leukemia
#9
Amélie Giguère, Josée Hébert
RUNX1 rearrangements are common genetic abnormalities in acute leukemia. The t(7;21)(p22;q22) translocation, recently described in three cases of myeloid neoplasias, fuses the ubiquitin specific peptidase 42 gene, USP42, a member of the deubiquitinating enzyme family, to RUNX1. In this study, we characterized the semicryptic t(7;21)(p22;q22) translocation, identified by fluorescent in situ hybridization and spectral karyotyping, in a novel case of acute myeloid leukemia. Sequence analysis of the reverse transcription-polymerase chain reaction products confirmed the presence of two in-frame RUNX1-USP42 and one reciprocal in-frame USP42-RUNX1 fusion transcripts...
January 14, 2011: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/20064152/molecular-characterisation-of-a-recurrent-semi-cryptic-runx1-translocation-t-7-21-in-myelodysplastic-syndrome-and-acute-myeloid-leukaemia
#10
Nicola Foster, Kajsa Paulsson, Mark Sales, Joan Cunningham, Michael Groves, Nigel O'Connor, Suriya Begum, Tracy Stubbs, Dominic J McMullan, Michael Griffiths, Norman Pratt, Sudhir Tauro
A proportion of cytogenetic abnormalities in myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML) may escape detection by high-resolution genomic technologies, but can be identified by conventional cytogenetic and molecular analysis. Here, we report the detection of a reciprocal translocation t(7;21)(p22;q22) in the marrow of two adults with MDS and AML, using conventional cytogenetic analysis and fluorescence-in situ-hybridization (FISH). Reverse-transcription polymerase chain reaction (RT-PCR) and sequence analysis identified a fusion between RUNX1 and the gene encoding ubiquitin specific peptidase-42 (USP42), with splice-variants and variable break-points within RUNX1...
March 2010: British Journal of Haematology
https://www.readbyqxmd.com/read/16904385/the-expression-of-usp42-during-embryogenesis-and-spermatogenesis-in-mouse
#11
Yu-Kyung Kim, Yong-Soo Kim, Kyong-Jai Yoo, Hey-Jin Lee, Dong-Ryul Lee, Chang Yeol Yeo, Kwang-Hyun Baek
Mouse Usp42, a novel ubiquitin specific protease gene, was isolated from mouse embryonic stem cells. It consists of 1,324 amino acids with a predicted molecular weight of 146kDa and contains the conserved Cys, Asp (I), His and Asn/Asp (II) domains defined as one of characteristics for deubiquitinating enzymes. RT-PCR analysis showed that the Usp42 transcript is expressed in NIH3T3 cells, B- and T-lymphocytes, and L1210 cells. Northern blot analysis revealed that Usp42 is expressed mainly in brain, lung, thymus and testis, and at mouse E10...
January 2007: Gene Expression Patterns: GEP
https://www.readbyqxmd.com/read/16357831/a-novel-and-cytogenetically-cryptic-t-7-21-p22-q22-in-acute-myeloid-leukemia-results-in-fusion-of-runx1-with-the-ubiquitin-specific-protease-gene-usp42
#12
K Paulsson, A N Békássy, T Olofsson, F Mitelman, B Johansson, I Panagopoulos
Although many of the chromosomal abnormalities in hematologic malignancies are identifiable cytogenetically, some are only detectable using molecular methods. We describe a novel cryptic t(7;21)(p22;q22) in acute myeloid leukemia (AML). FISH, 3'RACE, and RT-PCR revealed a fusion involving RUNX1 and the ubiquitin-specific protease (USP) gene USP42. The genomic breakpoint was in intron 7 of RUNX1 and intron 1 of USP42. The reciprocal chimera was not detected - neither on the transcriptional nor on the genomic level - and FISH showed that the 5' part of USP42 was deleted...
February 2006: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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