Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10295819" target="_blank" >RIV/00216208:11130/15:10295819 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/15:10295819

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.jaci.2015.03.005" target="_blank" >http://dx.doi.org/10.1016/j.jaci.2015.03.005</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jaci.2015.03.005" target="_blank" >10.1016/j.jaci.2015.03.005</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Popis výsledku v původním jazyce

Background: The endonuclease ARTEMIS, which is encoded by the DCLRE1C gene, is a component of the nonhomologous end-joining pathway and participates in hairpin opening during the V(D)J recombination process and repair of a subset of DNA double-strand breaks. Patients with ARTEMIS deficiency usually present with severe combined immunodeficiency (SCID) and cellular radiosensitivity, but hypomorphic mutations can cause milder phenotypes (leaky SCID). Objective: We sought to correlate the functional effectof human DCLRE1C mutations on phenotypic presentation in patients with ARTEMIS deficiency. Methods: We studied the recombination and DNA repair activity of 41 human DCLRE1C mutations in Dclre1c(-/-) v-abl kinase-transformed pro-B cells retrovirally engineered with a construct that allows quantification of recombination activity by means of flow cytometry. For assessment of DNA repair efficacy, resolution of gamma H2AX accumulation was studied after ionizing radiation. Results: Low or abs

Název v anglickém jazyce

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Popis výsledku anglicky

Background: The endonuclease ARTEMIS, which is encoded by the DCLRE1C gene, is a component of the nonhomologous end-joining pathway and participates in hairpin opening during the V(D)J recombination process and repair of a subset of DNA double-strand breaks. Patients with ARTEMIS deficiency usually present with severe combined immunodeficiency (SCID) and cellular radiosensitivity, but hypomorphic mutations can cause milder phenotypes (leaky SCID). Objective: We sought to correlate the functional effectof human DCLRE1C mutations on phenotypic presentation in patients with ARTEMIS deficiency. Methods: We studied the recombination and DNA repair activity of 41 human DCLRE1C mutations in Dclre1c(-/-) v-abl kinase-transformed pro-B cells retrovirally engineered with a construct that allows quantification of recombination activity by means of flow cytometry. For assessment of DNA repair efficacy, resolution of gamma H2AX accumulation was studied after ionizing radiation. Results: Low or abs

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

—

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Allergy and Clinical Immunology

ISSN

0091-6749

e-ISSN

—

Svazek periodika

136

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

18

Strana od-do

140-"U276"

Kód UT WoS článku

000357542200016

EID výsledku v databázi Scopus

2-s2.0-84949125497