What is the function of RAG2?
The RAG2 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.
What are RAG2 -/- mice?
RAG2 knock-out mice produce no mature T cells or B cells. Their phenotype can be described as a “non-leaky” immune deficiency. These mice may be useful in the study of hematopoietic and immune system defects, cancer, toxicology, and xenograft/transplant studies.
What does RAG1 and RAG2 do?
The RAG1 and RAG2 proteins initiate V(D)J recombination by introducing double-strand breaks at the border between a recombination signal sequence (RSS) and a coding segment.
What is the RAG2 gene and where is it located?
The RAG1 and RAG2 genes are located on the same genomic locus in a tail-to-tail configuration on chromosome 11p13, and are separated by 15 kb. The lack of introns within the coding region is reminiscent of transposable elements, and indeed RAG1 and RAG2 have been identified as transposases.
What is the difference between RAG1 and RAG2 knockout mice?
Both Rag2 and Rag1 bind DNA at recombination signal sequences and create single strand nicks as the first step of recombination. So the immunodeficient phenotype of Rag2 knockouts is similar to that of scid mice. One big difference is that the Rag2 mutation is not leaky.
How does Vdj recombination work?
VDJ recombination is the process by which T cells and B cells randomly assemble different gene segments – known as variable (V), diversity (D) and joining (J) genes – in order to generate unique receptors (known as antigen receptors) that can collectively recognize many different types of molecule.
What is the difference between RAG1 and Rag2 knockout mice?
Why are SCID mice used?
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What are SCID mouse models typically used for? SCID models are typically used in biology studies of the immune system. SCID mouse models are also used for tumor growth studies and studies of normal and abnormal lymphocyte development and function.
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.
Is SCID autosomal dominant or recessive?
Most often, SCID is inherited in an autosomal recessive pattern, in which both copies of a particular gene—one inherited from the mother and one from the father—contain defects.
Do SCID mice have neutrophils?
Neutrophils and monocytes constitute most of the remaining mouse immune cells detectable in peripheral blood. Dendritic cells and macrophages are also present in the mouse, although they are defective because of alleles in the NOD/ShiLt genetic background.
Do SCID mice have antibodies?
SCID mice with human immune cells are able to respond to pathogens such as viruses and create antibodies against them, which has helped scientists better understand how the human immune system protects against pathogen infection.
What does RAG2 stand for?
RAG2 (Recombination Activating 2) is a Protein Coding gene. Diseases associated with RAG2 include Omenn Syndrome and Combined Cellular And Humoral Immune Defects With Granulomas . Among its related pathways are Signaling by GPCR and FoxO signaling pathway .
What is RAG2 gene mutation and how does it affect you?
As mentioned, RAG2 is crucial for maturation of B and T cells. Therefore, mutations of RAG2 gene can result in severe immune disorders such as SCID (Severe Combined Immunodeficiency) or Omenn syndrome. Omenn Syndrom is caused by a hypomorphic mutation of RAG2 gene, which leads to reduced but still present function of the RAG complex.
What is the r2g2 model?
The R2G2 model is a double knockout mouse with an ultra immunodeficient phenotype. The model was created by backcrossing the IL2RG (common gamma chain) mutation on to a mixed background mouse (C57BL/6 and129 mix) with a mutation in Rag2. The recombination activating gene 2 (Rag2) interruption causes a deficiency in T and B cells.
What is the function of ragrag2 in RAG complex?
RAG2 also enhances RSS recognition and thereby decreases nonspecific DNA binding by RAG complex. The N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA.