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Houda Mokrani-Benhelli, Laetitia Gaillard, Patricia Biasutto, Tangui Le Guen, Fabien Touzot, Nadia Vasquez, Jun Komatsu, Emmanuel Conseiller, Capucine Pïcard, Eliane Gluckman, Christine Francannet, Alain Fischer, Anne Durandy, Jean Soulier, Jean-Pierre de Villartay, Marina Cavazzana-Calvo and Patrick Revy Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations Human Mutation 34

Article first published online: 20 DEC 2012 | DOI: 10.1002/humu.22245

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We here report the first patient with compound heterozygous ATR mutations. By using DNA combing technology we demonstrate that ATR-deficient cells exhibit a profound spontaneous alteration of DNA replication parameters. Moreover, we show that the genomic instability caused by ATR deficiency is exacerbated by ATM inhibition. Collectively, our results emphasize the crucial role for ATR in the control of DNA replication, and reinforce the complementary and non redundant contributions of ATM and ATR in human cells to warrant genome integrity.

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