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Lookup NU author(s): Professor Andrew GenneryORCiD
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Around 15-20 hereditary disorders associated with impaired DNA damage response mechanisms have been previously described. The range of clinical features associated with these disorders attests to the significant role that these pathways play during development. Recently, three new such disorders have been reported extending the importance of the damage response pathways to human health. LIG4 syndrome is conferred by hypomorphic mutations in DNA ligase IV, an essential component of DNA non-homologous end-joining (NHEJ), and is associated with pancytopaenia, developmental and growth delay and dysmorphic facial features. Radiosensitive severe combined immunodeficiency (RS-SCID) is caused by mutations in Artemis, a protein that plays a subsidiary role in non-homologous end-joining although it is not an essential component. RS-SCID is characterised by severe combined immunodeficiency but patients have no overt developmental abnormalities. ATR-Seckel syndrome is caused by mutations in ataxia telangiectasia and Rad3 related protein (ATR), a component of a DNA damage signalling pathway. ATR-Seckel syndrome patients have dramatic microcephaly and marked growth and developmental delay. The clinical features of these patients are considered in the light of the function of the defective protein. (C) 2004 Elsevier B.V. All rights reserved.
Author(s): O'Driscoll M, Gennery AR, Seidel J, Concannon P, Jeggo PA
Publication type: Review
Publication status: Published
Journal: DNA Repair
Year: 2004
Volume: 3
Issue: 8-9
Pages: 1227-1235
ISSN (print): 1568-7864
ISSN (electronic): 1568-7856
URL: http://dx.doi.org/10.1016/j.dnarep.2004.03.025
DOI: 10.1016/j.dnarep.2004.03.025
