Linked Life Data

21426255

Source:http://linkedlifedata.com/resource/pubmed/id/21426255

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2011-3-23
pubmed:abstractText
DNA double-strand break (DSB) repair is an essential cellular process required to maintain genomic integrity in the face of potentially lethal genetic damage. Failure to repair a DSB can trigger cell death, whereas misrepair of the break can lead to the generation of chromosomal translocations, which is a known causative event in the development or progression of cancer. DSBs can be induced following exposure to certain exogenous agents, such as ionising radiation or radiomimetic chemicals, as well as occurring naturally as intermediates of normal physiological processes, in particular during B and T cell antigen receptor assembly. Human syndromes with deficiencies in DSB repair commonly exhibit immunodeficiency, highlighting the critical nature of this pathway for development and maturation of the immune system. In this article we review the different pathways utilized by the cell to repair DSBs and how an inherited defect in some of the genes that are critical regulators of this process can be the underlying cause of human disorders associated with genome instability and immune system dysfunction. We focus on a newly described human immunodeficiency disorder called radiosensitivity, immunodeficiency dysmorphic features and learning difficulties (RIDDLE) syndrome, with particular reference to the function of the defective gene, RNF168. We also consider the implications of this finding on the mechanisms controlling development of the immune system.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1744-8409
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
169-85
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome.
pubmed:affiliation
School of Cancer Sciences, University of Birmingham, Vincent Drive, Edgbaston, Birmingham, B15 2TT, UK.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't