recombination activating 1
Última actualización 18 Aug 2020
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El 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 recognise foreign invaders and help protect the body from infection. These proteins need to be diverse to be able to recognise a wide variety of substances. The genes from which these proteins are made contain segments known as variable (V), diversity (D), and joining (J) segments. During protein production within lymphocytes, these gene segments are rearranged in different combinations to increase variability of the resulting proteins. The RAG complex is involved in this process, which is known as V(D)J recombination.
Normal function
El 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 recognise foreign invaders and help protect the body from infection. These proteins need to be diverse to be able to recognise a wide variety of substances. The genes from which these proteins are made contain segments known as variable (V), diversity (D), and joining (J) segments. During protein production within lymphocytes, these gene segments are rearranged in different combinations to increase variability of the resulting proteins. The RAG complex is involved in this process, which is known as V(D)J recombination.
During V(D)J recombination, the RAG complex attaches (binds) to a section of DNA called a recombination signal sequence (RSS), which is next to a V, D, or J segment. The RAG complex makes small cuts in the DNA between the segment and the RSS so the segment can be separated and moved to a different area in the gene. This process of DNA rearrangement within B cells and T cells is repeated multiple times in different areas so that the V, D, and J segments are arranged in various combinations. The variety of proteins produced throughout life following V(D)J recombination provides greater recognition of foreign invaders and allows the body to fight infection efficiently.
Conditions referring to this gene or chromosome
Otros nombres
MGC43321
RAG-1
recombination activating gene 1
recombination activating protein 1
RING finger protein 74
RNF74
V(D)J recombination-activating protein 1
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Lecturas adicionales y referencias
- recombination activating 1; MedlinePlus, National Library of Medicine.
- Bai X, Liu J, Zhang Z, Liu C, Zhang Y, Tang W, Dai R, Wu J, Tang X, Zhang Y, Ding Y, Jiang L, Zhao X. Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome. Immunol Res. 2016 Apr;64(2):497-507. doi: 10.1007/s12026-015-8723-4.
- Carmona LM, Schatz DG. New insights into the evolutionary origins of the recombination-activating gene proteins and V(D)J recombination. FEBS J. 2017 Jun;284(11):1590-1605. doi: 10.1111/febs.13990. Epub 2017 Jan 6.
- Cassani B, Poliani PL, Moratto D, Sobacchi C, Marrella V, Imperatori L, Vairo D, Plebani A, Giliani S, Vezzoni P, Facchetti F, Porta F, Notarangelo LD, Villa A, Badolato R. Defect of regulatory T cells in patients with Omenn syndrome. J Allergy Clin Immunol. 2010 Jan;125(1):209-16. doi: 10.1016/j.jaci.2009.10.023.
- Notarangelo LD, Kim MS, Walter JE, Lee YN. Human RAG mutations: biochemistry and clinical implications. Nat Rev Immunol. 2016 Apr;16(4):234-46. doi: 10.1038/nri.2016.28. Epub 2016 Mar 21.
- Ru H, Chambers MG, Fu TM, Tong AB, Liao M, Wu H. Molecular Mechanism of V(D)J Recombination from Synaptic RAG1-RAG2 Complex Structures. Cell. 2015 Nov 19;163(5):1138-1152. doi: 10.1016/j.cell.2015.10.055. Epub 2015 Nov 5.
- Somech R, Simon AJ, Lev A, Dalal I, Spirer Z, Goldstein I, Nagar M, Amariglio N, Rechavi G, Roifman CM. Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. J Allergy Clin Immunol. 2009 Oct;124(4):793-800. doi: 10.1016/j.jaci.2009.06.048. Epub 2009 Sep 19.
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