Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Patrick Revy,Taro Muto,Yves Levy,Frederic Geissmann,Alessandro Plebani,Ozden Sanal,Nadia Catalan,Monique Forveille,Dufourcq-Lagelouse R,Andrew R. Gennery,Ilhan Tezcan,Fügen Ersoy,Hülya Kayserili,Alberto G. Ugazio,Nicole Brousse,Masamichi Muramatsu,Luigi D. Notarangelo,Kazuo Kinoshita,Tasuku Honjo,Alain Fischer,Anne Durandy +20 more
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TLDR
The phenotype observed in HIGM2 patients (and in AID-/- mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses.About:
This article is published in Cell.The article was published on 2000-09-01 and is currently open access. It has received 1551 citations till now. The article focuses on the topics: Activation-induced (cytidine) deaminase & Cytidine deaminase.read more
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Class Switch Recombination and Hypermutation Require Activation-Induced Cytidine Deaminase (AID), a Potential RNA Editing Enzyme
Masamichi Muramatsu,Kazuo Kinoshita,Sidonia Fagarasan,Shuichi Yamada,Yoichi Shinkai,Tasuku Honjo +5 more
TL;DR: Results suggest that AID may be involved in regulation or catalysis of the DNA modification step of both class switching and somatic hypermutation in CH12F3-2 B lymphoma.
Journal ArticleDOI
B lymphocytes: how they develop and function
TL;DR: P perturbations in B-cell development that give rise to certain types of congenital immunodeficiency, leukemia/lymphoma, and autoimmune disease are discussed in the context of normal B- cell development and selection.
Journal ArticleDOI
Active DNA demethylation: many roads lead to Rome
Susan C. Wu,Yi Zhang +1 more
TL;DR: Insight into how DNA methylation is dynamically regulated will broaden the understanding of epigenetic regulation and have great implications in somatic cell reprogramming and regenerative medicine.
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Mechanism and regulation of class switch recombination.
TL;DR: Proteins required for the subsequent S-S recombination include DNA-PK, ATM, Mre11-Rad50-Nbs1, gammaH2AX, 53BP1, Mdc1, and XRCC4-ligase IV, which are important for faithful joining of S regions, and in their absence aberrant recombination and chromosomal translocations involving S regions occur.
Journal ArticleDOI
Molecular Mechanisms of Antibody Somatic Hypermutation
TL;DR: Functional antibody genes are assembled by V-D-J joining and then diversified by somatic hypermutation, which results from stepwise incorporation of single nucleotide substitutions into the V gene, underpinning much of antibody diversity and affinity maturation.
References
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Journal ArticleDOI
Class Switch Recombination and Hypermutation Require Activation-Induced Cytidine Deaminase (AID), a Potential RNA Editing Enzyme
Masamichi Muramatsu,Kazuo Kinoshita,Sidonia Fagarasan,Shuichi Yamada,Yoichi Shinkai,Tasuku Honjo +5 more
TL;DR: Results suggest that AID may be involved in regulation or catalysis of the DNA modification step of both class switching and somatic hypermutation in CH12F3-2 B lymphoma.
Journal ArticleDOI
Immunoenzymatic labeling of monoclonal antibodies using immune complexes of alkaline phosphatase and monoclonal anti-alkaline phosphatase (APAAP complexes).
Jacqueline Cordell,Brunangelo Falini,Wendy N. Erber,A. K. Ghosh,Zainalabideen Abdulaziz,S M MacDonald,Karen Pulford,Harald Stein,D Y Mason +8 more
TL;DR: The APAAP technique was found particularly suitable for labeling cell smears and for detecting low numbers of antigen-bearing cells in a specimen and could be used in conjunction with immunoperoxidase methods for double immunoenzymatic staining.
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Clonal selection and learning in the antibody system
TL;DR: A second selection process occurs during immune responses in which a new antibody repertoire is generated through somatic hypermutation, where only mutants binding antigen with high affinity survive to become memory cells.
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Faster sequential genetic linkage computations.
TL;DR: A variety of algorithmic improvements are described, which synthesize biological principles with computer science techniques, to effectively restructure the time-consuming computations in genetic linkage analysis.
Journal ArticleDOI
MAP3K-related kinase involved in NF-kappaB induction by TNF, CD95 and IL-1.
TL;DR: The findings indicate that NIK participates in an NF-KB-inducing signalling cascade common to receptors of the TNF/NGF family and to the interleukin-1 type-I receptor.