PMID: 11336668May 5, 2001Paper

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency

Cell
Despina MoshousJ P de Villartay

Abstract

The V(D)J recombination process insures the somatic diversification of immunoglobulin and antigen T cell receptor encoding genes. This reaction is initiated by a DNA double-strand break (dsb), which is resolved by the ubiquitously expressed DNA repair machinery. Human T-B-severe combined immunodeficiency associated with increased cellular radiosensitivity (RS-SCID) is characterized by a defect in the V(D)J recombination leading to an early arrest of both B and T cell maturation. We previously mapped the disease-related locus to the short arm of chromosome 10. We herein describe the cloning of the gene encoding a novel protein involved in V(D)J recombination/DNA repair, Artemis, whose mutations cause human RS-SCID. Protein sequence analysis strongly suggests that Artemis belongs to the metallo-beta-lactamase superfamily.

Associated Clinical Trials

References

Mar 6, 1992·Cell·P MombaertsV E Papaioannou
May 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·E A HendricksonD T Weaver
Feb 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·K A BiedermannJ M Brown
Oct 4, 1990·Nature·G M Fulop, R A Phillips
Dec 22, 1989·Cell·D G SchatzD Baltimore
Apr 14, 1983·Nature·S Tonegawa
Feb 10, 1983·Nature·G C BosmaM J Bosma
Oct 1, 1995·Trends in Biochemical Sciences·S P Jackson, P A Jeggo
Sep 27, 1996·The Journal of Biological Chemistry·P Robins, T Lindahl
Oct 4, 1996·Science·K SchwarzC R Bartram
Oct 1, 1996·Molecular and Cellular Biology·J S DanskaC J Guidos
Sep 17, 1996·Proceedings of the National Academy of Sciences of the United States of America·T BluntP A Jeggo
Jan 1, 1997·Annual Review of Immunology·A FischerF Le Deist
Apr 25, 1997·Journal of Molecular Biology·C Burge, S Karlin
Jul 31, 1997·Nature·T E WilsonM R Lieber
Dec 17, 1997·Nature Genetics·C JhappanG Merlino
Apr 25, 2000·The Journal of Biological Chemistry·B CorneoJ P de Villartay
Apr 26, 2000·Genome Research·A A Salamov, V V Solovyev
May 29, 2000·Trends in Genetics : TIG·J E Haber

❮ Previous
Next ❯

Citations

Sep 18, 2010·Inflammatory Bowel Diseases·Daniel J B MarksStuart L Bloom
Nov 26, 2008·Journal of Applied Genetics·Kamila CzornakKrystyna H Chrzanowska
Dec 26, 2007·Cellular and Molecular Life Sciences : CMLS·C R MandelL Tong
Sep 16, 2004·Springer Seminars in Immunopathology·Wilhelm Friedrich, Susanna M Müller
May 22, 2009·Clinical and Experimental Medicine·Neslihan Edeer KaracaNecil Kutukculer
Sep 25, 2012·Journal of Clinical Immunology·Rebecca H BuckleyMarcella Sarzotti-Kelsoe
Dec 3, 2005·The Protein Journal·Diego BonattoJoão Antonio Pêgas Henriques
May 10, 2012·Immunologic Research·Shruti MaluPatricia Cortes
Nov 18, 2008·Indian Journal of Pediatrics·I Cherkaoui JaouadA Sefiani
Apr 12, 2011·International Journal of Hematology·Shinichiro Nakada
Feb 22, 2012·International Journal of Hematology·Yuji Masuda, Kenji Kamiya
Jan 17, 2004·Biochimie·S P Lees-Miller, K Meek
Jun 7, 2005·DNA Repair·Yunmei MaMichael R Lieber
Dec 16, 2003·Journal of Molecular Biology·Richard HarrisPaul C Driscoll
Nov 12, 2003·Pharmacology & Therapeutics·A M CollinsM R Edwards
Nov 13, 2002·Mutation Research·Mark O'Driscoll, Penny Jeggo
Nov 6, 2003·Toxicology·Markus ChristmannBernd Kaina
Aug 23, 2001·Mutation Research·M L Dronkert, R Kanaar
Mar 1, 2002·Current Opinion in Immunology·Vicky L Brandt, David B Roth
Sep 23, 2003·Current Opinion in Immunology·Jean-Pierre de VillartayIsabelle Villey
Sep 23, 2003·Current Opinion in Immunology·Mary Ellen Conley
Oct 31, 2001·Trends in Cell Biology·A J PierceM Jasin
Jan 26, 2002·Journal of Photochemistry and Photobiology. B, Biology·P A Jeggo, P Concannon
Jun 11, 2005·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Francisco A BonillaUNKNOWN Joint Council of Allergy, Asthma and Immunology
Aug 7, 2003·The Lancet Oncology·Olivier GuipaudJozo Delic
Aug 19, 2003·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Norimoto KobayashiAtsushi Komiyama
Nov 5, 2003·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Steven J Simonte, Charlotte Cunningham-Rundles
Jan 2, 2003·DNA Repair·Penny Jeggo, Peter O'Neill
May 28, 2003·DNA Repair·John Thacker, Małgorzata Z Zdzienicka
Sep 22, 2010·Quarterly Reviews of Biophysics·Wei Yang
Mar 20, 2010·Expert Reviews in Molecular Medicine·Mary A Slatter, Andrew R Gennery
Dec 14, 2006·ACS Chemical Biology·Johanna A Smith, René Daniel
Feb 9, 2006·Chemical Reviews·David M NollPaul S Miller
Feb 9, 2006·Chemical Reviews·Patrick J O'Brien

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cell eTOC

Cell is a scientific journal publishing research across a broad range of disciplines within the life sciences field. Discover the latest research from Cell here.