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

被引：683
作者：
Moshous, D
Callebaut, I
de Chasseval, R
Corneo, B
Cavazzana-Calvo, M
Le Deist, F
Tezcan, I
Sanal, O
Bertrand, Y
Philippe, N
Fischer, A
de Villartay, JP
机构：
[1] Hop Necker Enfants Malad, INSERM, U429, F-75015 Paris, France
[2] Univ Paris 06, LMCP, CNRS, UMR C7590, F-75005 Paris, France
[3] Univ Paris 07, F-75005 Paris, France
[4] Hacettepe Univ, Ihsan Dogramaci Childrens Hosp, Div Immunol, Ankara, Turkey
[5] Hop Debrousse, Lyon, France
来源：
CELL | 2001年 / 105卷 / 02期
关键词：
D O I：
10.1016/S0092-8674(01)00309-9
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
引用
收藏
页码：177 / 186
页数：10
相关论文
共 45 条
[1]  
ARAVIND L, 1997, SILICO BIOL, V1, P5
[2]   Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice [J].
Barnes, DE ;
Stamp, G ;
Rosewell, I ;
Denzel, A ;
Lindahl, T .
CURRENT BIOLOGY, 1998, 8 (25) :1395-1398
[3]   SCID MUTATION IN MICE CONFERS HYPERSENSITIVITY TO IONIZING-RADIATION AND A DEFICIENCY IN DNA DOUBLE-STRAND BREAK REPAIR [J].
BIEDERMANN, KA ;
SUN, JR ;
GIACCIA, AJ ;
TOSTO, LM ;
BROWN, JM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (04) :1394-1397
[4]   Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse [J].
Blunt, T ;
Gell, D ;
Fox, M ;
Taccioli, GE ;
Lehmann, AR ;
Jackson, SP ;
Jeggo, PA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (19) :10285-10290
[5]   A SEVERE COMBINED IMMUNODEFICIENCY MUTATION IN THE MOUSE [J].
BOSMA, GC ;
CUSTER, RP ;
BOSMA, MJ .
NATURE, 1983, 301 (5900) :527-530
[6]   Prediction of complete gene structures in human genomic DNA [J].
Burge, C ;
Karlin, S .
JOURNAL OF MOLECULAR BIOLOGY, 1997, 268 (01) :78-94
[7]   Crystal structure of human glyoxalase II and its complex with a glutathione thiolester substrate analogue [J].
Cameron, AD ;
Ridderström, M ;
Olin, B ;
Mannervik, B .
STRUCTURE, 1999, 7 (09) :1067-1078
[8]   THE 3-D STRUCTURE OF A ZINC METALLO-BETA-LACTAMASE FROM BACILLUS-CEREUS REVEALS A NEW-TYPE OF PROTEIN FOLD [J].
CARFI, A ;
PARES, S ;
DUEE, E ;
GALLENI, M ;
DUEZ, C ;
FRERE, JM ;
DIDEBERG, O .
EMBO JOURNAL, 1995, 14 (20) :4914-4921
[9]   INCREASED RADIOSENSITIVITY OF GRANULOCYTE MACROPHAGE COLONY-FORMING-UNITS AND SKIN FIBROBLASTS IN HUMAN AUTOSOMAL RECESSIVE SEVERE COMBINED IMMUNODEFICIENCY [J].
CAVAZZANACALVO, M ;
LEDEIST, F ;
BASILE, GD ;
PAPADOPOULO, D ;
DEVILLARTAY, JP ;
FISCHER, A .
JOURNAL OF CLINICAL INVESTIGATION, 1993, 91 (03) :1214-1218
[10]   Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency [J].
Corneo, B ;
Moshous, D ;
Callebaut, I ;
de Chasseval, R ;
Fischer, A ;
de Villartay, JP .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (17) :12672-12675
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