Simone Difilippantonio

Genomic instability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking Nbs1

Reina-San-Martin, Bernardo, Nussenzweig, Michel C., Nussenzweig, André, Difilippantonio, Simone

Mre11, Rad50, and Nbs1 form an evolutionarily conserved protein complex (Mre11–Rad50–Nbs1, MRN) that has been proposed to function as a DNA damage sensor. Hypomorphic mutations in Mre11 and Nbs1...

53BP1 Cooperates with p53 and Functions as a Haploinsufficient Tumor Suppressor in Mice

Ward, Irene M., Difilippantonio, Simone, Minn, Kay, Mueller, Melissa D., Molina, Julian R., Yu, Xiaochun, ...

p53 binding protein 1 (53BP1) is a putative DNA damage sensor that accumulates at sites of double-strand breaks (DSBs) in a manner dependent on histone H2AX. Here we show that the loss of one or both...

Genomic instability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking Nbs1

Reina-San-Martin, Bernardo, Nussenzweig, Michel C., Nussenzweig, André, Difilippantonio, Simone

Mre11, Rad50, and Nbs1 form an evolutionarily conserved protein complex (Mre11–Rad50–Nbs1, MRN) that has been proposed to function as a DNA damage sensor. Hypomorphic mutations in Mre11 and Nbs1...

53BP1 Cooperates with p53 and Functions as a Haploinsufficient Tumor Suppressor in Mice

Ward, Irene M., Difilippantonio, Simone, Minn, Kay, Mueller, Melissa D., Molina, Julian R., Yu, Xiaochun, ...

p53 binding protein 1 (53BP1) is a putative DNA damage sensor that accumulates at sites of double-strand breaks (DSBs) in a manner dependent on histone H2AX. Here we show that the loss of one or both...

Distinct domains in Nbs1 regulate irradiation-induced checkpoints and apoptosis

Difilippantonio, Simone, Celeste, Arkady, Kruhlak, Michael J., Lee, Youngsoo, Difilippantonio, Michael J., Feigenbaum, Lionel, ...

The chromosomal instability syndromes Nijmegen breakage syndrome (NBS) and ataxia telangiectasia (AT) share many overlapping phenotypes, including cancer predisposition, radiation sensitivity,...

H2AX Is Required for Recombination Between Immunoglobulin Switch Regions but Not for Intra-Switch Region Recombination or Somatic Hypermutation

Reina-San-Martin, Bernardo, Difilippantonio, Simone, Hanitsch, Leif, Masilamani, Revati F., Nussenzweig, André, Nussenzweig, Michel C.

Changes in chromatin structure induced by posttranslational modifications of histones are important regulators of genomic function. Phosphorylation of histone H2AX promotes DNA repair and helps...