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 RAG1 mutation?

RAG1 gene mutations that result in the production of RAG1 proteins that retain some normal function cause another form of immunodeficiency. This condition is characterized by somewhat reduced numbers of B and T cells, but affected individuals typically do not develop severe infections until late childhood.

What would be the outcome of a deficiency in RAG genes?

Altered T and B cell development in patients with RAG gene defects is associated with impairment of immunological tolerance. Ultimately, the degree in the severity of T and B cell lymphopenia, breakage of immune tolerance, and exposure to environmental triggers are the main factors that shape the clinical phenotype.

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 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.

Where is RAG1 and RAG2 located?

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 function of the RAG enzyme?

RAG enzymes work as a multi-subunit complex to induce cleavage of a single double stranded DNA (dsDNA) molecule between the antigen receptor coding segment and a flanking recombination signal sequence (RSS). They do this in two steps.

What is the RAG2 gene?

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.

How is Artemis involved in B and T cell development?

Artemis is protein in the pathway that mediates repair of DNA double-strand breaks (dsb) by nonhomologous end-joining (NHEJ) – this process is required for T cell and B cell V(D)J recombination.

Who worshiped Artemis?

Artemis was worshiped in most Greek cities but only as a secondary deity. However, to the Greeks in Asia Minor (modern day Turkey) she was a prominent deity. In Ephesus, a principal city of Asia Minor, a great temple was built in her honor, which became one of the “Seven Wonders of the Ancient World”.

What is the function of Rag2?