RAG and RAG defects

被引：47

作者：

Notarangelo, LD ^{[1
]}

Villa, A

Schwarz, K

机构：

[1] Univ Brescia, Spedali Civili, Dept Pediat, I-25122 Brescia, Italy

[2] CNR, Ist Tecnol Biomed Avanzate, I-20090 Segrate, MI, Italy

[3] Univ Ulm, Dept Transfus Med, D-89081 Ulm, Germany

来源：

CURRENT OPINION IN IMMUNOLOGY | 1999年 / 11卷 / 04期

关键词：

D O I：

10.1016/S0952-7915(99)80073-9

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Products of the recombination-activating gene (RAG) play a crucial role in lymphoid cell development. During the past year, the functional properties of RAG protein domains have been better defined. Some mutations that alter the amino acid sequence of RAG1 or RAG2 have been shown to disturb B cell generation and to partially disturb T cell generation, resulting in Omenn syndrome in humans; moreover, peripheral re-expression of RAGs indicates their role in lymphoid cell homeostasis.

引用

页码：435 / 442

页数：8

共 76 条

[21] Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV [J].

Frank, KM ;

Sekiguchi, JM ;

Seidl, KJ ;

Swat, W ;

Rathbun, GA ;

Cheng, HL ;

Davidson, L ;

Kangaloo, L ;

Alt, FW .

NATURE, 1998, 396 (6707) :173-177

[22] Identification and characterization of the murine Rag1 promoter [J].

Fuller, K ;

Storb, U .

MOLECULAR IMMUNOLOGY, 1997, 34 (12-13) :939-954

[23] FLT-3 ligand and marrow stroma-derived factors promote CD3γ, CD3δ, CD3ξ, and RAG-2 gene expression in primary human CD34+LIN-DR- marrow progenitors [J].

Gaffney, PM ;

Lund, J ;

Miller, JS .

BLOOD, 1998, 91 (05) :1662-1670

[24] A targeted DNA-PKcs-null mutation reveals DNA-PK-independent functions for KU in V(D)J recombination [J].

Gao, YJ ;

Chaudhuri, J ;

Zhu, CM ;

Davidson, L ;

Weaver, DT ;

Alt, FW .

IMMUNITY, 1998, 9 (03) :367-376

[25] A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis [J].

Gao, YJ ;

Sun, Y ;

Frank, KM ;

Dikkes, P ;

Fujiwara, Y ;

Seidl, KJ ;

Sekiguchi, JM ;

Rathbun, GA ;

Swat, W ;

Wang, JY ;

Bronson, RT ;

Malynn, BA ;

Bryans, M ;

Zhu, CM ;

Chaudhuri, J ;

Davidson, L ;

Ferrini, R ;

Stamato, T ;

Orkin, SH ;

Greenberg, ME ;

Alt, FW .

CELL, 1998, 95 (07) :891-902

[26]

Gellert M, 1997, ADV IMMUNOL, V64, P39, DOI 10.1016/S0065-2776(08)60886-X

[27] TREATMENT OF OMENN SYNDROME BY BONE-MARROW TRANSPLANTATION [J].

GOMEZ, L ;

LEDEIST, F ;

BLANCHE, S ;

CAVAZZANACALVO, M ;

GRISCELLI, C ;

FISCHER, A .

JOURNAL OF PEDIATRICS, 1995, 127 (01) :76-81

[28] DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes [J].

Grawunder, U ;

Zimmer, D ;

Fugmann, S ;

Schwarz, K ;

Lieber, MR .

MOLECULAR CELL, 1998, 2 (04) :477-484

[29] Antigen receptor gene rearrangement [J].

Grawunder, U ;

West, RB ;

Lieber, MR .

CURRENT OPINION IN IMMUNOLOGY, 1998, 10 (02) :172-180

[30] Growth retardation and leaky SCID phenotype of Ku70-deficient mice [J].

Gu, YS ;

Seidl, KJ ;

Rathbun, GA ;

Zhu, CM ;

Manis, JP ;

vanderStoep, N ;

Davidson, L ;

Cheng, HL ;

Sekiguchi, JM ;

Frank, K ;

StanhopeBaker, P ;

Schlissel, MS ;

Roth, DB ;

Alt, FW .

IMMUNITY, 1997, 7 (05) :653-665

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