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https://www.readbyqxmd.com/read/29772310/recombination-activity-of-human-rag2-mutations-and-correlation-with-the-clinical-phenotype
#1
Irit Tirosh, Yasuhiro Yamazaki, Francesco Frugoni, Francesca A Ververs, Eric J Allenspach, Yu Zhang, Siobhan Burns, Waleed Al-Herz, Lenora Noroski, Jolan E Walter, Andrew R Gennery, Mirjam van der Burg, Luigi D Notarangelo, Yu Nee Lee
BACKGROUND: Mutations in the Recombinase Activating Gene 1 and 2 (RAG1, RAG2) are associated with a broad range of clinical and immunological phenotypes in humans. OBJECTIVE: Using a flow cytometry-based assay, we aimed to measure the recombinase activity of naturally occurring RAG2 mutant proteins, and to correlate results with the severity of the clinical and immunological phenotype. METHODS: Abelson virus-transformed Rag2-/- pro-B cells engineered to contain an inverted GFP cassette flanked by recombination signal sequences (RSS) were transduced with retroviruses encoding either wild-type or 41 naturally occurring RAG2 variants...
May 14, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29760281/the-rag-2-inhibitory-domain-gates-accessibility-of-the-v-d-j-recombinase-to-chromatin
#2
Alyssa Ward, Gita Kumari, Ranjan Sen, Stephen Desiderio
Accessibility of antigen receptor loci to RAG is correlated with the presence of H3K4me3, which binds to a plant homeodomain (PHD) in the RAG-2 subunit and promotes V(D)J recombination. A point mutation in the PHD, W453A, eliminates binding of H3K4me3 and impairs recombination. The debilitating effect of the W453A mutation is ameliorated by second-site mutations that locate an inhibitory domain in the interval from 352 through 405 of RAG-2. Disruption of the inhibitory domain stimulates V(D)J recombination within extrachromosomal substrates and at endogenous antigen receptor loci...
May 14, 2018: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29743177/hypomorphic-rag1-mutations-alter-the-pre-immune-repertoire-at-early-stages-of-lymphoid-development
#3
Lisa M Ott de Bruin, Marita Bosticardo, Alessandro Barbieri, Sherry G Lin, Jared H Rowe, Pietro L Poliani, Kimberly Ching, Daniel Eriksson, Nils Landegren, Olle Kämpe, John P Manis, Luigi D Notarangelo
Hypomorphic RAG1 mutations allowing residual T and B cell development have been found in patients presenting with delayed-onset combined immune deficiency with granulomas and/or autoimmunity (CID-G/AI) and abnormalities of the peripheral T and B cell repertoire. To examine how hypomorphic Rag1 mutations affect the earliest stages of lymphocyte development, we used CRISPR/Cas9 to generate mouse models with equivalent mutations found in patients with CID-G/AI. Immunological characterization showed partial development of T and B lymphocytes, with persistence of naïve cells, preserved serum immunoglobulin, but impaired antibody responses and presence of autoantibodies, thereby recapitulating the phenotype seen in patients with CID-G/AI...
May 9, 2018: Blood
https://www.readbyqxmd.com/read/29741206/low-concentrations-of-permethrin-and-malathion-induce-numerical-and-structural-abnormalities-in-kmt2a-and-igh-genes-in-vitro
#4
M P Navarrete-Meneses, A I Pedraza-Meléndez, C Salas-Labadía, D Moreno-Lorenzana, P Pérez-Vera
Pesticides are commonly used worldwide and almost every human is potentially exposed to these chemicals. Exposure to pesticides such as permethrin and malathion has been associated with hematological malignancies in epidemiological studies. However, biological evidence showing if these chemicals induce genetic aberrations involved in the etiology of leukemia and lymphoma is missing. In our previous work, we have shown that a single high exposure (200 μm, 24 hours) of permethrin and malathion induce damage in genes associated with hematological malignancies in peripheral blood mononuclear cells analyzed by interphase fluorescence in situ hybridization (FISH)...
May 9, 2018: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/29735481/simultaneous-presence-of-non-and-highly-mutated-keyhole-limpet-hemocyanin-klh-specific-plasmablasts-early-after-primary-klh-immunization-suggests-cross-reactive-memory-b-cell-activation
#5
Claudia Giesecke, Tim Meyer, Pawel Durek, Jochen Maul, Jan Preiß, Joannes F M Jacobs, Andreas Thiel, Andreas Radbruch, Reiner Ullrich, Thomas Dörner
There are currently limited insights into the progression of human primary humoral immunity despite numerous studies in experimental models. In this study, we analyzed a primary and related secondary parenteral keyhole limpet hemocyanin (KLH) immunization in five human adults. The primary challenge elicited discordant KLH-specific serum and blood effector B cell responses (i.e., dominant serum KLH-specific IgG and IgM levels versus dominant KLH-specific IgA plasmablast frequencies). Single-cell IgH sequencing revealed early appearance of highly (>15 mutations) mutated circulating KLH-specific plasmablasts 2 wk after primary KLH immunization, with simultaneous KLH-specific plasmablasts carrying non- and low-mutated IgH sequences...
May 7, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29731414/rna-helicase-ddx1-converts-rna-g-quadruplex-structures-into-r-loops-to-promote-igh-class-switch-recombination
#6
Claudia Ribeiro de Almeida, Somdutta Dhir, Ashish Dhir, Amin E Moghaddam, Quentin Sattentau, Anton Meinhart, Nicholas J Proudfoot
Class switch recombination (CSR) at the immunoglobulin heavy-chain (IgH) locus is associated with the formation of R-loop structures over switch (S) regions. While these often occur co-transcriptionally between nascent RNA and template DNA, we now show that they also form as part of a post-transcriptional mechanism targeting AID to IgH S-regions. This depends on the RNA helicase DDX1 that is also required for CSR in vivo. DDX1 binds to G-quadruplex (G4) structures present in intronic switch transcripts and converts them into S-region R-loops...
April 30, 2018: Molecular Cell
https://www.readbyqxmd.com/read/29728513/regulation-of-the-dna-repair-complex-during-somatic-hypermutation-and-class-switch-recombination
#7
Anjani Kumar, Anshu Priya, Tanzeel Ahmed, Christine Grundström, Neema Negi, Thomas Grundström
B lymphocytes optimize Ab responses by somatic hypermutation (SH), which introduces point mutations in the variable regions of the Ab genes and by class-switch recombination (CSR), which changes the expressed C region exon of the IgH. These Ab diversification processes are initiated by the deaminating enzyme activation-induced cytidine deaminase followed by many DNA repair enzymes, ultimately leading to deletions and a high mutation rate in the Ab genes, whereas DNA lesions made by activation-induced cytidine deaminase are repaired with low error rate on most other genes...
May 4, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29726428/effect-of-nursing-assessment-on-predictive-delirium-models-in-hospitalised-patients
#8
Sai P K Veeranki, Dieter Hayn, Diether Kramer, Stefanie Jauk, Günter Schreier
Delirium is an acute neuropsychiatric syndrome which is common in elderly patients during their hospitalisation and is associated with an increased mortality and morbidity. Since delirium is a) often underdiagnosed and b) preventable if early signs are detected,igh expectations are set in delirium risk assessment during hospital admission. In our latest studies, we showed that delirium prediction using machine learning algorithms is possible based on the patients' health history. The aim of this study is to compare the influence of nursing assessment data on prediction models with clinical and demographic data...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29706548/the-energetics-and-physiological-impact-of-cohesin-extrusion
#9
Laura Vian, Aleksandra Pękowska, Suhas S P Rao, Kyong-Rim Kieffer-Kwon, Seolkyoung Jung, Laura Baranello, Su-Chen Huang, Laila El Khattabi, Marei Dose, Nathanael Pruett, Adrian L Sanborn, Andres Canela, Yaakov Maman, Anna Oksanen, Wolfgang Resch, Xingwang Li, Byoungkoo Lee, Alexander L Kovalchuk, Zhonghui Tang, Steevenson Nelson, Michele Di Pierro, Ryan R Cheng, Ido Machol, Brian Glenn St Hilaire, Neva C Durand, Muhammad S Shamim, Elena K Stamenova, José N Onuchic, Yijun Ruan, Andre Nussenzweig, David Levens, Erez Lieberman Aiden, Rafael Casellas
Cohesin extrusion is thought to play a central role in establishing the architecture of mammalian genomes. However, extrusion has not been visualized in vivo, and thus, its functional impact and energetics are unknown. Using ultra-deep Hi-C, we show that loop domains form by a process that requires cohesin ATPases. Once formed, however, loops and compartments are maintained for hours without energy input. Strikingly, without ATP, we observe the emergence of hundreds of CTCF-independent loops that link regulatory DNA...
April 24, 2018: Cell
https://www.readbyqxmd.com/read/29704159/diversity-of-immunoglobulin-ig-isotypes-and-the-role-of-activation-induced-cytidine-deaminase-aid-in-fish
#10
REVIEW
Bhakti Patel, Rajanya Banerjee, Mrinal Samanta, Surajit Das
The disparate diversity in immunoglobulin (Ig) repertoire has been a subject of fascination since the emergence of prototypic adaptive immune system in vertebrates. The carboxy terminus region of activation-induced cytidine deaminase (AID) has been well established in tetrapod lineage and is crucial for its function in class switch recombination (CSR) event of Ig diversification. The absence of CSR in the paraphyletic group of fish is probably due to changes in catalytic domain of AID and lack of cis-elements in IgH locus...
April 27, 2018: Molecular Biotechnology
https://www.readbyqxmd.com/read/29699947/evaluation-of-the-diagnostic-value-of-immunoglobulin-clonal-gene-rearrangements-in-patients-with-parotid-gland-malt-lymphoma-using-biomed-2-protocol
#11
Yamin Zhang, Dan Yu, Ke Huang, Chongshang Huang, Hangfei Liu, Xiafei Sun, Jiaxiong Wang, Huiyong Zhu
OBJECTIVES: The aim of this study was to evaluate the diagnostic value of immunoglobulin (Ig) clonal gene rearrangements for mucosa-associated lymphoid tissue (MALT) lymphoma of the parotid gland. STUDY DESIGN: We collected and retrospectively analyzed clinical data of 21 patients referred to our institution between 2009 and 2017. Eight patients had been primarily diagnosed MALT lymphoma of the parotid gland and the remaining patients with lymphoepithelial lesion...
March 21, 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29697211/molecular-profiling-and-clonal-tracking-of-secreted-rheumatoid-factors-in-primary-sj%C3%A3-gren-s-syndrome
#12
Jing J Wang, Joanne H Reed, Alex D Colella, Amanda J Russell, William Murray-Brown, Tim K Chataway, Katherine J L Jackson, Christopher C Goodnow, Tom P Gordon
OBJECTIVE: Rheumatoid factors (RFs) are associated with systemic disease in primary Sjögren's syndrome (SS) and may be pathogenic as mixed cryoglobulins. Current detection methods cannot resolve RFs at a molecular level. Here, we perform the first proteomic and transcriptomic analysis of secreted and membrane-bound RF IgM in primary SS and identify unique heavy (H)-chain peptide signatures for RF clonotype tracking. METHODS: Purified H-chains of serum RFs (IgH-RF) from 15 primary SS patients were subjected to de novo mass spectrometric sequencing...
April 26, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29695689/-role-of-the-nucleolus-in-rearrangements-of-the-igh-locus
#13
O V Iarovaia, E S Ioudinkova, S V Razin, Y S Vassetzky
The review summarizes the results from a series of studies focusing on the role that the nucleolus plays in maturation of the IGH locus and the choice of its partner genes in leukemia-associated translocations. The role of nuclear compartmentalization and nuclear localization of translocated oncogenes in ectopic activation of their transcription is discussed.
March 2018: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/29693365/identification-of-key-candidate-genes-and-pathways-in-endometrial-cancer-by-integrated-bioinformatical-analysis
#14
Lihong Liu, Fangxu Chen, Aihui Xiu, Bo Du, Hao Ai, Wei Xie
Endometrial Cancer is the most common female genital tract malignancy, its pathogenesis is complex, not yet fully described. To identify key genes of Endometrial Cancer we downloaded the gene chip GSE17025 from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) were identified through the GEO2R analysis tool. Functional and pathway enrichment analysis were performed for DEGs using DAVID database. The network of protein–protein-interaction (PPI) was established by STRING website and visualized by Cytoscape...
April 25, 2018: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/29686053/identification-of-a-transcriptionally-forward-%C3%AE-gene-and-two-%C3%AF-genes-within-the-pigeon-columba-livia-igh-gene-locus
#15
Tian Huang, Xifeng Wang, Run Si, Hao Chi, Binyue Han, Haitang Han, Gengsheng Cao, Yaofeng Zhao
Compared with mammals, the bird Ig genetic system relies on gene conversion to create an Ab repertoire, with inversion of the IgA-encoding gene and very few cases of Ig subclass diversification. Although gene conversion has been studied intensively, class-switch recombination, a mechanism by which the IgH C region is exchanged, has rarely been investigated in birds. In this study, based on the published genome of pigeon ( Columba livia ) and high-throughput transcriptome sequencing of immune-related tissues, we identified a transcriptionally forward α gene and found that the pigeon IgH gene locus is arranged as μ-α-υ1-υ2...
April 23, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29678710/pediatric-type-follicular-lymphoma-in-the-dura-a-case-report-and-literature-review
#16
Junya Yamaguchi, Seiichi Kato, Eri Iwata, Kosuke Aoki, Ryusuke Kabeya, Atsushi Natsume, Toshihiko Wakabayashi
BACKGROUND: Primary central nervous system lymphoma (PCNSL) is a relatively common tumor of the central nervous system. Although PCNSLs generally arise from the parenchyma, lymphomas arising primarily from the dura are termed dural lymphomas (DL). Mucosa-associated lymphoid tissue is the most unique histological feature of DL. Due to its rarity, clinical characteristics and treatments for DL have not been fully elucidated to date. CASE DESCRIPTION: A 31-year-old man with no past medical history presented with numbness in his left upper limb...
April 17, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29666005/unexpected-favorable-outcome-in-a-patient-with-high-grade-b-cell-lymphoma-with-abnormalities-of-myc-bcl6-and-bcl2-loci
#17
Thomas Adams, Deborah Fuchs, Patricia K Shadoan, Laurel Johnstone, Branden M Lau, Lee McGhan, Faiz Anwer, Hussam Al-Kateb
High grade B-cell lymphoma (HGBCL) by WHO 2016 classification requires rearrangements of MYC and BCL2 and/or BCL6, practically covering the so called "double-hit" or "triple hit" lymphomas. We report a case of HGBCL "triple-hit" lymphoma in a 64-year old female. Cytogenetic and fluorescence in situ hybridization (FISH) studies revealed complex karyotype including rearrangement of MYC to a novel, non-IG partner on chromosome 18, and rearrangement of BCL2, BCL6 and IGH as well as ins(3)(q21q27...
April 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29664669/primary-nonsecretory-plasma-cell-leukemia-with-multiple-chromosomal-abnormalities-a-case-report
#18
Satoshi Nakayama, Tomohiro Oda, Shinya Minabe, Yukiharu Bamba, Haruko Ukawa, Rika Sato, Masaki Kawabata, Toshikatsu Horiuchi, Junichi Watanabe, Fumihiko Kimura, Hideyuki Shimazaki, Sho Ogata, Kuniaki Nakanishi
Primary nonsecretory plasma cell leukemia (PCL) is an extremely rare type of multiple myeloma. Here, we report a case of nonsecretory PCL with no previous history of multiple myeloma. The case exhibited extremely low levels of serum immunoglobulin and light chain, no detectable serum M-protein or free light chain restriction, no urine BJP, and no cytoplasmic light chain expression in flow cytometry. In fluorescence in situ hybridization, tumor cells exhibited fusion genes for IgH/BCL1 and IgH/cMyc, disappearance of the p53 signal, and a split signal for IgK(2p11), but no split signal for IgL (22q11)...
January 1, 2018: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/29629947/identification-of-double-hit-lymphomas-using-updated-who-criteria-insights-from-routine-myc-immunohistochemistry-in-272-consecutive-cases-of-aggressive-b-cell-lymphomas
#19
Hany Sakr, James R Cook
Aggressive lymphomas with MYC and BCL2 and/or BCL6 translocations ("double hit" lymphomas, DHL) represent a distinct diagnostic category in the updated World Health Organization (WHO) classification. The diagnostic yield of MYC immunohistochemistry (IHC) for the identification of DHL is currently uncertain. MYC IHC was performed in 272 consecutive cases of aggressive B-cell lymphoma, and results correlated with fluorescence in situ hybridization (FISH) for MYC translocations. Among 156 patients with IHC and FISH data, MYC IHC identified MYC translocations with 89% sensitivity, 38% specificity, 92% negative predictive value, and 29% positive predictive value...
April 7, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/29618685/-splenic-diffuse-red-pulp-small-b-cell-lymphoma-diagnosed-by-splenectomy-initially-mimicking-hairy-cell-leukemia-japanese-variant
#20
Yukika Yamada, Miyoko Miura, Mayu Tagari, Kazuo Oshimi, Tomokazu Shiragata, Wataru Suga, Tatsurou Takahashi, Kazuyoshi Shimizu, Kouichi Ohshima, Keizou Kajiwara
A 62-year-old man presented to the hospital with thrombocytopenia, and splenomegaly was detected. His blood films prepared by natural air drying revealed medium-sized lymphocytes with unevenly distributed large and small villous projections. The cytoplasm was basophilic, nuclei were oval with clumped chromatin, and nucleoli were absent in most cells. Immune phenotypes CD19+, CD20+, CD11c+, FMC7+, IgM+, and Igκ+ were detected. TRAP stain appeared negative, IgH JH chain genes were monoclonally rearranged, and BRAF V600E mutation was not detected...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
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