Do mutations of RAG genes have a role in human autoimmunity? The Notarangelo's hypothesis revisited

2006 ◽  
Vol 22 (2) ◽  
pp. 108-110 ◽  
Author(s):  
Alessandra Fierabracci ◽  
Carla Lintas ◽  
Laura Altieri ◽  
Francesca Saura ◽  
Antonio Crino' ◽  
...  
Keyword(s):  
Rag Genes

Approaches to patients with variants in RAG genes: from diagnosis to timely treatment

2019 ◽  
Vol 15 (10) ◽  
pp. 1033-1046 ◽  
Author(s):  
Adeeb A. Bulkhi ◽  
Joseph F. Dasso ◽  
Catharina Schuetz ◽  
Jolan E. Walter
Keyword(s):  
Rag Genes ◽  
Timely Treatment

Intrathymic Restriction and Peripheral Expansion of the T-Cell Repertoire in Omenn Syndrome

Blood ◽  
1999 ◽  
Vol 94 (10) ◽  
pp. 3468-3478 ◽  
Author(s):  
Simona Signorini ◽  
Luisa Imberti ◽  
Silvia Pirovano ◽  
Anna Villa ◽  
Fabio Facchetti ◽  
...  
Keyword(s):  
T Cell ◽  
Cell Receptor ◽  
Strand Break ◽  
Omenn Syndrome ◽  
Primary Immune Deficiency ◽  
T Cell Repertoire ◽  
Cell Repertoire ◽  
Nucleotide Insertion ◽  
Rag Genes ◽  
Peripheral Expansion

Mutations in the human RAG genes that impair, but do not abolish, recombination activity lead to Omenn syndrome, a severe primary immune deficiency that is associated with clinical and pathological features of graft-versus-host disease and oligoclonal expansion of activated, autologous T cells. We have analyzed the mechanisms accounting for peripheral oligoclonality of the T-cell repertoire. Predominance of few T-cell receptor clonotypes (both within TCRAB- and within TCRGD-expressing lymphocytes) is already detectable in the thymus and is further selected for in the periphery, with a different distribution of clonotypes in different tissues. These data indicate that oligoclonality of the T-cell repertoire in Omenn syndrome is due both to intrathymic restriction and to peripheral expansion. Moreover, the RAG genes defect that causes Omenn syndrome directly affects early stages of V(D)J recombination, but does not alter the process of double-strand-break DNA repair, including N and P nucleotide insertion.

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T−B− SCID in patients with defects in RAG genes

2007 ◽  
Vol 124 (2) ◽  
pp. 165-169 ◽  
Author(s):  
Iram J. Haq ◽  
Laura J. Steinberg ◽  
Manfred Hoenig ◽  
Mirjam van der Burg ◽  
Anna Villa ◽  
...  
Keyword(s):  
Omenn Syndrome ◽  
Rag Genes

N4 11:10 Expression of the rag genes of zebrafish identifies the thymus

1997 ◽  
Vol 21 (2) ◽  
pp. 194
Author(s):  
C.E. Willett ◽  
J.J. Cherry ◽  
A. Zapata ◽  
N. Hopkins ◽  
L.A. Steiner
Keyword(s):  
Rag Genes

scholarly journals bcl-xL and RAG genes are induced and the response to IL-2 enhanced in EμEBNA-1 transgenic mouse lymphocytes

Oncogene ◽  
2002 ◽  
Vol 21 (33) ◽  
pp. 5182-5187 ◽  
Author(s):  
Penelope Tsimbouri ◽  
Mark E Drotar ◽  
Joanna L Coy ◽  
Joanna B Wilson
Keyword(s):  
Transgenic Mouse ◽  
Rag Genes ◽  
Mouse Lymphocytes

scholarly journals The Evolution of Rag Gene Enhancers and Transcription Factor E and Id Proteins in the Adaptive Immune System

2021 ◽  
Vol 22 (11) ◽  
pp. 5888
Author(s):  
Genki Yoshikawa ◽  
Kazuko Miyazaki ◽  
Hiroyuki Ogata ◽  
Masaki Miyazaki
Keyword(s):  
Immune System ◽  
Dna Recombination ◽  
Regulatory System ◽  
Adaptive Immune System ◽  
Cell Receptor ◽  
Regulatory Elements ◽  
Adaptive Immune ◽  
Helix Loop Helix ◽  
Rag Genes ◽  
Rag 1

Adaptive immunity relies on the V(D)J DNA recombination of immunoglobulin (Ig) and T cell receptor (TCR) genes, which enables the recognition of highly diverse antigens and the elicitation of antigen-specific immune responses. This process is mediated by recombination-activating gene (Rag) 1 and Rag2 (Rag1/2), whose expression is strictly controlled in a cell type-specific manner; the expression of Rag1/2 genes represents a hallmark of lymphoid lineage commitment. Although Rag genes are known to be evolutionally conserved among jawed vertebrates, how Rag genes are regulated by lineage-specific transcription factors (TFs) and how their regulatory system evolved among vertebrates have not been fully elucidated. Here, we reviewed the current body of knowledge concerning the cis-regulatory elements (CREs) of Rag genes and the evolution of the basic helix-loop-helix TF E protein regulating Rag gene CREs, as well as the evolution of the antagonist of this protein, the Id protein. This may help to understand how the adaptive immune system develops along with the evolution of responsible TFs and enhancers.

scholarly journals rag genes: novel components of the RamR regulon that trigger morphological differentiation in Streptomyces coelicolor

2006 ◽  
Vol 61 (5) ◽  
pp. 1167-1186 ◽  
Author(s):  
Salvatore San Paolo ◽  
Jianqiang Huang ◽  
Stanley N. Cohen ◽  
Charles J. Thompson
Keyword(s):  
Streptomyces Coelicolor ◽  
Morphological Differentiation ◽  
Rag Genes
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