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Titolo:
A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p
Autore:
Moshous, D; Li, LY; de Chasseval, R; Philippe, N; Jabado, N; Cowan, MJ; Fischer, A; de Villartay, JP;
Indirizzi:
Hop Necker Enfants Malad, INSERM, U429, F-75015 Paris, France Hop Necker Enfants Malad Paris France F-75015 429, F-75015 Paris, France Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA Univ Calif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA Hop Debrousse, Lyon, France Hop Debrousse Lyon FranceHop Debrousse, Lyon, France Hop Necker Enfants Malad, Unite Immunol & Hematol, Paris, France Hop Necker Enfants Malad Paris France Immunol & Hematol, Paris, France
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 4, volume: 9, anno: 2000,
pagine: 583 - 588
SICI:
0964-6906(20000301)9:4<583:ANGIID>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
SEVERE COMBINED IMMUNODEFICIENCY; SCID MUTATION; DISEASE; RADIOSENSITIVITY; FIBROBLASTS; DEFICIENCY; POPULATION; SYSTEM; DEFECT; MOUSE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: de Villartay, JP Hop Necker Enfants Malad, INSERM, U429, 149 Rue Sevres, F-75015 Paris, France Hop Necker Enfants Malad 149 Rue Sevres Paris France F-75015
Citazione:
D. Moshous et al., "A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p", HUM MOL GEN, 9(4), 2000, pp. 583-588

Abstract

V(D)J recombination, accountable for the diversity of T cell receptor- andimmunoglobulin-encoding genes, is initiated by a lymphoid-specific DNA double-strand break. The general DNA repair machinery is responsible for the resolution of this break. Any defect in one of the known components of the DNA repair/V(D)J recombination machinery (Ku70, Ku80, DNA-PKcs, XRCC4 and DNA ligase IV) leads to abortion of the V(D)J rearrangement process, early block in both T and B cell maturation, and ultimately to severe combined immune deficiency (SCID) in several animal models, A human SCID condition is also characterized by an absence of mature T and B lymphocytes, and is associated with an increase in sensitivity to DNA-damaging agents (RS-SCID), Noneof the above-mentioned genes are defective in these patients, arguing for the likelihood of the existence of yet another unknown component of the V(D)J recombination/DNA repair apparatus, Athabascan-speaking (SCIDA) Navajo and Apache Native Americans have a very high incidence of T-B- SCID, The SCIDA locus is highly linked with markers on chromosome 10p, although the exact molecular defect has not been recognized in these patients. We show here that cells with the SCIDA defect are impaired in the DNA repair phase of V(D)J recombination similarly to RS-SCID, precisely an absence of V(D)J coding joint formation. Moreover, genotyping analysis in several RS-SCID families corroborates a linkage of the RS-SCID locus to the SCIDA region on chromosome 10p. These results demonstrate the presence of a new essential DNA repair/V(D)J recombination gene in this region, the mutation of which causes RS-SCID in humans.

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Documento generato il 15/08/20 alle ore 19:08:18