scholarly journals RAG2 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Rag2 Gene

A heterozygous mutation in the RAG2 gene with cutaneous and systemic manifestations partially resembling Omenn syndrome

2021 ◽  
Author(s):  
Andrea Estébanez ◽  
Jaime Verdú‐Amorós ◽  
Esmeralda Silva ◽  
Rebeca Velasco ◽  
Ana Cuesta ◽  
...  
Keyword(s):  
Heterozygous Mutation ◽  
Omenn Syndrome ◽  
Rag2 Gene ◽  
Systemic Manifestations

scholarly journals Hierarchical assembly and disassembly of a transcriptionally active RAG locus in CD4+CD8+ thymocytes

2018 ◽  
Vol 216 (1) ◽  
pp. 231-243 ◽  
Author(s):  
Abani Kanta Naik ◽  
Aaron T. Byrd ◽  
Aaron C.K. Lucander ◽  
Michael S. Krangel
Keyword(s):  
Gene Expression ◽  
T Cells ◽  
Molecular Mechanisms ◽  
Promoter Activation ◽  
Active Chromatin ◽  
Gene Assembly ◽  
Down Regulation ◽  
Hierarchical Assembly ◽  
Rag2 Gene

Expression of Rag1 and Rag2 is tightly regulated in developing T cells to mediate TCR gene assembly. Here we have investigated the molecular mechanisms governing the assembly and disassembly of a transcriptionally active RAG locus chromatin hub in CD4+CD8+ thymocytes. Rag1 and Rag2 gene expression in CD4+CD8+ thymocytes depends on Rag1 and Rag2 promoter activation by a distant antisilencer element (ASE). We identify GATA3 and E2A as critical regulators of the ASE, and Runx1 and E2A as critical regulators of the Rag1 promoter. We reveal hierarchical assembly of a transcriptionally active chromatin hub containing the ASE and RAG promoters, with Rag2 recruitment and expression dependent on assembly of a functional ASE–Rag1 framework. Finally, we show that signal-dependent down-regulation of RAG gene expression in CD4+CD8+ thymocytes depends on Ikaros and occurs with disassembly of the RAG locus chromatin hub. Our results provide important new insights into the molecular mechanisms that orchestrate RAG gene expression in developing T cells.

Strength and corticosteroid responsiveness of mdx mice is unchanged by RAG2 gene knockout

2007 ◽  
Vol 17 (5) ◽  
pp. 376-384 ◽  
Author(s):  
Paul T. Golumbek ◽  
Richard M. Keeling ◽  
Anne M. Connolly
Keyword(s):  
Gene Knockout ◽  
Mdx Mice ◽  
Rag2 Gene

Genome-wide analysis of Kluyveromyces lactis in wild-type and rag2 mutant strains

Genome ◽  
2004 ◽  
Vol 47 (5) ◽  
pp. 970-978 ◽  
Author(s):  
Manuel Becerra ◽  
Nuria Tarrío ◽  
M Isabel González-Siso ◽  
M Esperanza Cerdán
Keyword(s):  
Kluyveromyces Lactis ◽  
Glycolytic Enzyme ◽  
Pentose Phosphate ◽  
Phosphoglucose Isomerase ◽  
Transcriptional Level ◽  
Dna Arrays ◽  
Gene Coding ◽  
Genome Wide ◽  
Rag2 Gene ◽  
Interesting Alternative

The use of heterologous DNA arrays from Saccharomyces cerevisiae has been tested and revealed as a suitable tool to compare the transcriptomes of S. cerevisiae and Kluyveromyces lactis, two yeasts with notable differences in their respirofermentative metabolism. The arrays have also been applied to study the changes in the K. lactis transcriptome owing to mutation in the RAG2 gene coding for the glycolytic enzyme phosphoglucose isomerase. Comparison of the rag2 mutant growing in 2% glucose versus 2% fructose has been used as a model to elucidate the importance of transcriptional regulation of metabolic routes, which may be used to reoxidize the NADPH produced in the pentose phosphate pathway. At this transcriptional level, routes related to the oxidative stress response become an interesting alternative for NADPH use.Key words: Kluyveromyces lactis, transcription, phosphoglucose isomerase, carbohydrate use.

scholarly journals KERAGAMAN GENETIK IKAN TIGER FISH (Datnioides sp.) ASAL KALIMANTAN DAN SUMATERA

2018 ◽  
Vol 13 (3) ◽  
pp. 191
Author(s):  
Melta Rini Fahmi ◽  
Erma Primanita Hayuningtyas ◽  
Mochammad Zamroni ◽  
Bastiar Nur ◽  
Shofihar Sinansari
Keyword(s):  
Genetic Diversity ◽  
Genetic Distance ◽  
Cytochrome Oxidase ◽  
Dna Barcoding ◽  
Cytochrome B ◽  
Molecular Identification ◽  
Coi Gene ◽  
Cyt B ◽  
Cytochrome Oxidase 1 ◽  
Rag2 Gene

Ikan tiger fish (Datnioides sp.) merupakan ikan hias air tawar yang memiliki nilai ekonomis penting. Distribusi populasi ikan ini meliputi Papua, Kalimantan, dan Sumatera, dengan tingkat eksploitasi yang cukup tinggi di dua lokasi terakhir. Penelitian ini dilakukan untuk mendapatkan informasi keragaman genetik ikan tiger fish yang mendiami perairan Kalimantan dan Sumatera. Sebanyak 24 sampel ikan uji dikoleksi dari Sungai Kapuas, Kalimantan Barat dan Sungai Musi, Sumatera Selatan. Penelitian dilakukan dalam dua tahap, tahap pertama yaitu identifikasi molekuler dengan menggunakan DNA barcoding gen cytochrome oxidase 1 (COI), tahap kedua adalah analisis keragaman genetik dengan menggunakan marka DNA mitokondria gen cytochrome b (Cyt b), dan DNA inti gen recombination activating gene (RAG2). Hasil identifikasi secara molekuler menunjukkan bahwa ikan hasil koleksi memiliki kesamaan genetik sebesar 100% dengan spesies D. undecimradiatus. Keragaman genetik ikan tiger fish antar populasi berkisar pada nilai 0,023 (standar deviasi 0,001) sedangkan keragaman intra populasi adalah sebesar 0,002 dan 0,003 masing-masing untuk populasi Kalimantan dan Sumatera. Jarak genetik sampel baik yang berasal dari Sumatera maupun Kalimantan dengan spesies D. undeciumradiatus masing-masing 0,003 dan 0,006; sedangkan dengan spesies D. microlepis yaitu 0,142. Analisis menggunakan gen RAG2 menunjukkan sampel yang diuji memiliki struktur populasi yang terpisah ditandai dengan terjadinya mutasi pada enam nukleotida dan tiga asam amino.The Tiger fish (Datnioides sp.) is a freshwater ornamental fish that has important economic value. The distribution of this fish included Papua, Kalimantan, and Sumatra, but intensive exploitation occurs in the last two population. This research was conducted to obtain the genetic diversity of tiger fish that inhabited in Kalimantan and Sumatra. A total of 24 fish were collected from Kapuas River, West Kalimantan and Musi River, at Sumatra. The study was conducted in two stages, the first stage is molecular identification of sample by using DNA barcoding cytochrome oxidase 1 (COI) gene, the second stage is analyses of genetic diversity of tiger fish within and between population by using the mitochondrial DNA cytochrome b (Cyt b) gene, and nucleus DNA recombination (RAG2) gene. The molecular identification has shown that the collected fish has a genetic similarity of 100% with D. undecimradiatus. The genetic diversity of tiger fish between populations is 0.023 (standard deviation of 0.001) whereas intra-population is 0.002 and 0.003 for Kalimantan and Sumatra, respectively. The genetic distance of samples with species D. undeciumradiatus were 0.003 and 0.006 for Kalimantan and Sumatera, respectively, whereas the genetic distance with D. microlepis was 0.142. The analysis of mutation on RAG2 gene shows there are six nucleotides and three amino acids have mutation.

scholarly journals Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Ibtihal Benhsaien ◽  
Fatima Ailal ◽  
Khadija Elazhary ◽  
Jalila El bakkouri ◽  
Abdallah Badou ◽  
...  
Keyword(s):  
Opportunistic Infections ◽  
Novel Mutation ◽  
Severe Combined Immunodeficiency ◽  
Failure To Thrive ◽  
Lymphocyte Subpopulation ◽  
Combined Immunodeficiency ◽  
Hematopoietic Stem ◽  
Her Family ◽  
First Case ◽  
Rag2 Gene

Severe combined immunodeficiency (SCID) comprises a heterogeneous group of inherited immunologic disorders with profound defects in cellular and humoral immunity. SCID is the most severe PID and constitutes a pediatric emergency. Affected children are highly susceptible to bacterial, viral, fungal, and opportunistic infections with life-threatening in the absence of hematopoietic stem cell transplantation. We report here two cases of SCID. The first case is a girl diagnosed with SCID at birth based on her family history and lymphocyte subpopulation typing. The second case is a 4-month-old boy with a history of recurrent opportunistic infections, BCGitis, and failure to thrive, and the immunology workup confirms a SCID phenotype. The genetic study in the two cases revealed a novel mutation in the RAG2 gene, c.826G > A (p.Gly276Ser), in a homozygous state. The novel mutation in the RAG2 gene identified in our study may help the early diagnosis of SCID.

The RAG2 gene of yellow catfish (Tachysurus fulvidraco) and its immune response against Edwardsiella ictaluri infection

2019 ◽  
Vol 98 ◽  
pp. 65-75
Author(s):  
Farman Ullah Dawar ◽  
Sarath Babu V ◽  
Hongyan Kou ◽  
Zhendong Qin ◽  
Quanyuan Wan ◽  
...  
Keyword(s):  
Immune Response ◽  
Edwardsiella Ictaluri ◽  
Yellow Catfish ◽  
Rag2 Gene ◽  
Tachysurus Fulvidraco

scholarly journals High-mobility-group A1 (HMGA1) proteins down-regulate the expression of the recombination activating gene 2 (RAG2)

2005 ◽  
Vol 389 (1) ◽  
pp. 91-97 ◽  
Author(s):  
Sabrina BATTISTA ◽  
Monica FEDELE ◽  
Josefina Martinez HOYOS ◽  
Francesca PENTIMALLI ◽  
Giovanna Maria PIERANTONI ◽  
...  
Keyword(s):  
Gene Expression ◽  
Embryonic Stem ◽  
High Mobility ◽  
Cell Development ◽  
Embryoid Bodies ◽  
High Mobility Group ◽  
Malignant Tumours ◽  
Rag2 Gene ◽  
Hmga1 Expression

HMGA1 (high-mobility-group A1) proteins are architectural transcription factors that are found overexpressed in embryogenesis and malignant tumours. We have shown previously that they have a role in lymphopoiesis, since the loss of HMGA1 expression leads to an impairment of T-cell development and to an increase in B-cell population. Since RAGs (recombination activating genes) are key regulators of lymphoid differentiation, in the present study we investigate whether RAG2 expression is dependent on HMGA1 activity. We show that RAG2 gene expression is up-regulated in Hmga1−/− ES (embryonic stem) cells and EBs (embryoid bodies) as well as in yolk sacs and fibroblasts from Hmga1−/− mice, suggesting that HMGA1 proteins control RAG2 gene expression both in vitro and in vivo. We show that the effect of HMGA1 on RAG2 expression is direct, identify the responsible region in the RAG2 promoter and demonstrate binding to the promoter in vivo using chromatin immunoprecipitation. Since RAG2 is necessary for lymphoid cell development, our results suggest a novel mechanism by which HMGA1 might regulate lymphoid differentiation.

RAG2 gene knockout in mice causes fatigue

2007 ◽  
Vol 36 (4) ◽  
pp. 471-476 ◽  
Author(s):  
Paul T. Golumbek ◽  
Richard M. Keeling ◽  
Anne M. Connolly
Keyword(s):  
Gene Knockout ◽  
Rag2 Gene
Sign in / Sign up

Export Citation Format

Share Document