What is the function of RAG-1 and RAG 2?

RAG-1 and RAG-2 are proteins at the ends of VDJ genes that separate, shuffle, and rejoin the VDJ genes. This shuffling takes place inside B cells and T cells during their maturation.

What is the difference between RAG1 and RAG2?

Unlike the binding of RAG1 plus RAG2, RAG1 can bind to DNA in the absence of a divalent metal ion and does not require the presence of coding flank sequence. Conversely, the heptamer is rendered more accessible to chemical attack, suggesting that binding of RAG1 plus RAG2 distorts the DNA near the coding/signal border.

What is RAG Immunology?

Recombination activating genes (RAGs) encode enzymes that are involved in the rearrangement and recombination of the immunoglobulin and T cell receptor (TCR) genes during the process of VDJ recombination (Dudley et al., 2005).

What is trec immunology?

T-cell receptor excision circles (TRECs) are small circles of DNA created in T-cells during their passage through the thymus as they rearrange their TCR genes. Their presence indicates maturation of T cells; TRECs are reduced in SCID (Severe combined immunodeficiency disease).

What is Artemis deficiency?

Artemis deficiency is a rare form of autosomal recessive radiosensitive SCID that results in a T-B-NK+ phenotype. It is caused by mutations in the DCLRE1C gene.

What is NOD SCID mice?

The NSG mouse (NOD scid gamma mouse) is a brand of immunodeficient laboratory mice, developed and marketed by Jackson Laboratory, which carries the strain NOD. NSG branded mice are among the most immunodeficient described to date. NSG branded mice lack mature T cells, B cells, and natural killer (NK) cells.

Do SCID mice have NK cells?

“Scid” mice are homozygous for the Prkdcscid mutation. These mice are B, T and NK cell deficient. Additionally, because they both have NOD/ShiLtJ genetic backgrounds, they are hemolytic complement-deficient and carry alleles that adversely affect macrophage and dendritic cell functions.

What do RAG genes do?

The RAG1 gene provides instructions for making a member of a group of proteins called the RAG complex. This complex is active in immune system cells (lymphocytes) called B cells and T cells. These cells have special proteins on their surface that recognize foreign invaders and help protect the body from infection.

How do you treat RAG deficiency?

Hematopoietic stem cell transplantation is the only curative treatment available for RAG deficiencies up to date ( Table 1 ).

What is the purpose of VDJ?

V(D)J recombination is the mechanism of somatic recombination that occurs only in developing lymphocytes during the early stages of T and B cell maturation. It results in the highly diverse repertoire of antibodies/immunoglobulins and T cell receptors (TCRs) found in B cells and T cells, respectively.

What are the VDJ segments?

Immunoglobulins and T cell receptors are composed of two polypeptide chains, each of which contributes to the antigen binding domain. The exons encoding the antigen binding domains are assembled from so-called V (variable), D (diversity), and J (joining) gene segments by “cut and paste” DNA rearrangements.