Immunoglobulin class switch recombination: study through human natural mutants

被引:11
作者
Durandy, Anne [1 ,2 ,3 ]
机构
[1] INSERM, U768, F-75015 Paris, France
[2] Univ Paris 05, F-75006 Paris, France
[3] CEDI, F-75015 Paris, France
关键词
class switch recombination; activation-induced (cytidine) deaminase; mismatch repair; non-homologous end-joining repair; double-strand DNA breaks; INDUCED CYTIDINE DEAMINASE; HYPER-IGM SYNDROME; AUTOSOMAL RECESSIVE FORM; MISMATCH REPAIR PROTEIN; SOMATIC HYPERMUTATION; DNA-DAMAGE; B-CELLS; GENOMIC INSTABILITY; MICE DEFICIENT; HISTONE H2AX;
D O I
10.1098/rstb.2008.0210
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Immunoglobulin class switch recombination deficiencies in humans are exquisite models to analyse the mechanisms of class switch recombination (CSR). Besides defects in CD40L/CD40 interaction, others result from an intrinsic B-cell deficiency. The recent elucidation of the molecular basis of some of them has made it possible to delineate the molecular events involved in antibody maturation. Activation-induced (cytidine) deaminase (AID) and uracil-N-glycosylase deficiencies have demonstrated the role of AID as the inducer of DNA lesions in switch and variable regions. However, most of these CSR deficiencies remain molecularly undefined. Their characterization would lead to a better understanding of the complex machinery involved in CSR.
引用
收藏
页码:577 / 582
页数:6
相关论文
共 55 条
[1]   Mdm2 binds to Nbs1 at sites of DNA damage and regulates double strand break repair [J].
Alt, JR ;
Bouska, A ;
Fernandez, MR ;
Cerny, RL ;
Xiao, H ;
Eischen, CM .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2005, 280 (19) :18771-18781
[2]   C-terminal deletion of AID uncouples class switch recombination from somatic hypermutation and gene conversion [J].
Barreto, V ;
Reina-San-Martin, B ;
Ramiro, AR ;
McBride, KM ;
Nussenzweig, MC .
MOLECULAR CELL, 2003, 12 (02) :501-508
[3]   The AID antibody diversification enzyme is regulated by protein kinase A phosphorylation [J].
Basu, U ;
Chaudhuri, J ;
Alpert, C ;
Dutt, S ;
Ranganath, S ;
Li, G ;
Schrum, JP ;
Manis, JP ;
Alt, FW .
NATURE, 2005, 438 (7067) :508-511
[4]   Activation-induced cytidine deaminase deaminates deoxycytidine on single-stranded DNA but requires the action of RNase [J].
Bransteitter, R ;
Pham, P ;
Scharff, MD ;
Goodman, MF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (07) :4102-4107
[5]   Follicular B helper T cells express CXC chemokine receptor 5, localize to B cell follicles, and support immunoglobulin production [J].
Breitfeld, D ;
Ohl, L ;
Kremmer, E ;
Ellwart, J ;
Sallusto, F ;
Lipp, M ;
Förster, R .
JOURNAL OF EXPERIMENTAL MEDICINE, 2000, 192 (11) :1545-1551
[6]   Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly [J].
Buck, D ;
Malivert, L ;
de Chasseval, P ;
Barraud, A ;
Fondanèche, MC ;
Sanal, O ;
Plebani, A ;
Stéphan, JL ;
Hufnagel, M ;
le Deist, F ;
Fischer, A ;
Durandy, A ;
de Villartay, JP ;
Revy, P .
CELL, 2006, 124 (02) :287-299
[7]   Ku80 is required for immunoglobulin isotype switching [J].
Casellas, R ;
Nussenzweig, A ;
Wuerffel, R ;
Pelanda, R ;
Reichlin, A ;
Suh, H ;
Qin, XF ;
Besmer, E ;
Kenter, A ;
Rajewsky, K ;
Nussenzweig, MC .
EMBO JOURNAL, 1998, 17 (08) :2404-2411
[8]   Genomic instability in mice lacking histone H2AX [J].
Celeste, A ;
Petersen, S ;
Romanienko, PJ ;
Fernandez-Capetillo, O ;
Chen, HT ;
Sedelnikova, OA ;
Reina-San-Martin, B ;
Coppola, V ;
Meffre, E ;
Difilippantonio, MJ ;
Redon, C ;
Pilch, DR ;
Olaru, A ;
Eckhaus, M ;
Camerini-Otero, RD ;
Tessarollo, L ;
Livak, F ;
Manova, K ;
Bonner, WM ;
Nussenzweig, MC ;
Nussenzweig, A .
SCIENCE, 2002, 296 (5569) :922-927
[9]   Replication protein A interacts with AID to promote deamination of somatic hypermutation targets [J].
Chaudhuri, J ;
Khuong, C ;
Alt, FW .
NATURE, 2004, 430 (7003) :992-998
[10]  
Durandy A, 1997, J IMMUNOL, V158, P2576