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| Content Provider | PubMed Central |
|---|---|
| Author | Rucci, Francesca Notarangelo, Luigi D. Fazeli, Alex Patrizi, Laura Hickernell, Thomas Paganini, Tiziana Coakley, Kristen M. Detre, Cynthia Marton, Keszei Walter, Jolan E. Feldman, Lauren Cheng, Hwei-ling Luigi, Poliani Pietro Wang, Jing H. Balter, Barbara B. Recher, Mike Andersson, Emma-maria Zha, Shan Giliani, Silvia Terhorst, Cox Alt, Frederick W. Yan, Catherine T. |
| Abstract | DNA ligase IV (LIG4) is an essential component of the nonhomologous end-joining (NHEJ) repair pathway and plays a key role in V(D)J recombination. Hypomorphic LIG4 mutations in humans are associated with increased cellular radiosensitivity, microcephaly, facial dysmorphisms, growth retardation, developmental delay, and a variable degree of immunodeficiency. We have generated a knock-in mouse model with a homozygous Lig4 R278H mutation that corresponds to the first LIG4 mutation reported in humans. The phenotype of homozygous mutant mice Lig4 R278H/R278H (Lig4 R/R) includes growth retardation, a decreased life span, a severe cellular sensitivity to ionizing radiation, and a very severe, but incomplete block in T and B cell development. Peripheral T lymphocytes show an activated and anergic phenotype, reduced viability, and a restricted repertoire, reminiscent of human leaky SCID. Genomic instability is associated with a high rate of thymic tumor development. Finally, Lig4 R/R mice spontaneously produce low-affinity antibodies that include autoreactive specificities, but are unable to mount high-affinity antibody responses. These findings highlight the importance of LIG4 in lymphocyte development and function, and in genomic stability maintenance, and provide a model for the complex phenotype of LIG4 syndrome in humans. |
| Related Links | http://dx.doi.org/10.1073/pnas.0914865107 |
| Ending Page | 3029 |
| Page Count | 6 |
| Starting Page | 3024 |
| File Format | |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 7 |
| Volume Number | 107 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 2010-02-16 |
| Access Restriction | Open |
| Rights Holder | National Academy of Sciences |
| Subject Keyword | General Research in Higher Education |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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