Chapter title |
Inherited defects of immunoglobulin class switch recombination.
|
---|---|
Chapter number | 15 |
Book title |
Diseases of DNA Repair
|
Published in |
Advances in experimental medicine and biology, December 2009
|
DOI | 10.1007/978-1-4419-6448-9_15 |
Pubmed ID | |
Book ISBNs |
978-1-4419-6447-2, 978-1-4419-6448-9
|
Authors |
Kracker S, Gardës P, Durandy A, Sven Kracker, Pauline Gardës, Anne Durandy, Kracker, Sven, Gardës, Pauline, Durandy, Anne |
Abstract |
The investigation of an inherited primary immunodeficiency, the immunoglobulin class switch recombination deficiency, has allowed the delineation of complex molecular events that underlie antibody maturation in humans. The Activation-induced cytidine deaminase (AID)-deficiency, characterized by a defect in Class Switch Recombination (CSR) and somatic hypermutation, has revealed the master role of this molecule in the induction of DNA damage, the first step required for these two processes. The description that mutations in the gene encoding the Uracil-DNA glycosylase (UNG) lead to defective CSR has been essential for defining the DNA-editing activity of AID. Analysis of post meiotic segregation 2 (PMS2)-deficient patients gave evidence for the role of this mismatch repair enzyme in the generation of the DNA breaks that are required for CSR. Novel findings are awaited from the study ofyet-genetically undefined CSR-deficiencies, probably leading to the identification of AID cofactor(s) and/or proteins involved in CSR-induced DNA repair. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 14 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 6 | 43% |
Student > Ph. D. Student | 5 | 36% |
Student > Bachelor | 1 | 7% |
Professor | 1 | 7% |
Unknown | 1 | 7% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 6 | 43% |
Medicine and Dentistry | 3 | 21% |
Biochemistry, Genetics and Molecular Biology | 2 | 14% |
Mathematics | 1 | 7% |
Immunology and Microbiology | 1 | 7% |
Other | 1 | 7% |