Linked Life Data

12727634

Source:http://linkedlifedata.com/resource/pubmed/id/12727634

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2003-5-2
pubmed:abstractText
V(D)J recombination constitutes a critical checkpoint in the development of the immune system as shown in several animal models as well as severe combined immune deficiency (SCID) condition in humans. We recently cloned the Artemis gene, whose mutations are responsible for RS-SCID, a condition characterized by an absence of both B and T lymphocytes and associated with increased sensitivity to ionizing radiations. Artemis is ubiquitously expressed and is localized in the nucleus. Artemis belongs to the metallo-beta-lactamase superfamily and defines a new group, beta-CASP, within this family. beta-CASP proteins are beta-lactamases acting on nucleic acids. While RS-SCID patients harbor Artemis loss-of-function mutations, we identified four patients with a combined immunodeficiency characterized by a low but detectable number of both B and T lymphocytes caused by hypomorphic mutations in the Artemis gene. Two of these patients developed aggressive B cell lymphomas, a condition that suggests Artemis may be considered a "caretaker" factor, similarly to the other V(D)J recombination/DNA repair actors.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0077-8923
pubmed:author
pubmed:issnType
Print
pubmed:volume
987
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
150-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
The V(D)J recombination/DNA repair factor artemis belongs to the metallo-beta-lactamase family and constitutes a critical developmental checkpoint of the lymphoid system.
pubmed:affiliation
Unité Développement Normal et Pathologique du Système Immunitaire, INSERM U429, Hôpital Necker Enfants-Malades, Paris, France.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't