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

被引：682

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

页码：177 / 186

页数：10

共 45 条

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