New mutations and protein variants of NBSI are identified in cancer cell lines

Alessandra Tessitore, Leda Biordi, Vincenzo Flati, Elena Toniato, Paolo Marchetti, Enrico Ricevuto, Corrado Ficorella, Luigi Scotto, Giuseppe Giannini, Luigi Frati, Carlo Masciocchi, Vincenzo Tombolini, Alberto Gulino, Stefano Martinotti

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Alterations of the NBSI gene are responsible for Nijmegen breakage syndrome (NBS), which is characterized by chromosomal instability, radiosensitivity, and cancer predisposition. NBSI protein (Nibrin) is part of a molecular complex (NBSI - MREIIA - RAD50) that is functionally involved in DNA double-strand - break repair. Defects in recombination or in repair mechanisms at the level of DNA breakage can lead to chromosomal aberrations, genetic instability, as well as cancer predisposition syndromes (i.e., NBS, ataxia-telangiectasia, Bloom syndrome). In this study, we examined 20 cancer cell lines to evaluate the potential involvement of NBSI in tumoral pathogenesis. Three different mutations, generating truncated or aberrant NBSI transcripts, were identified at the level of NBSI mRNA. In addition, two shorter NBSI protein variants were detected in two cell lines. These data suggest a possible involvement of NBSI in tumor development.

Original languageEnglish
Pages (from-to)198-204
Number of pages7
JournalGenes Chromosomes and Cancer
Volume36
Issue number2
DOIs
Publication statusPublished - Feb 1 2003

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Nijmegen Breakage Syndrome
Cell Line
Mutation
Neoplasms
Proteins
Bloom Syndrome
Ataxia Telangiectasia
Chromosomal Instability
Double-Stranded DNA Breaks
Radiation Tolerance
Chromosome Aberrations
Genetic Recombination
Messenger RNA
DNA
Genes

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

Tessitore, A., Biordi, L., Flati, V., Toniato, E., Marchetti, P., Ricevuto, E., ... Martinotti, S. (2003). New mutations and protein variants of NBSI are identified in cancer cell lines. Genes Chromosomes and Cancer, 36(2), 198-204. https://doi.org/10.1002/gcc.10145

New mutations and protein variants of NBSI are identified in cancer cell lines. / Tessitore, Alessandra; Biordi, Leda; Flati, Vincenzo; Toniato, Elena; Marchetti, Paolo; Ricevuto, Enrico; Ficorella, Corrado; Scotto, Luigi; Giannini, Giuseppe; Frati, Luigi; Masciocchi, Carlo; Tombolini, Vincenzo; Gulino, Alberto; Martinotti, Stefano.

In: Genes Chromosomes and Cancer, Vol. 36, No. 2, 01.02.2003, p. 198-204.

Research output: Contribution to journalArticle

Tessitore, A, Biordi, L, Flati, V, Toniato, E, Marchetti, P, Ricevuto, E, Ficorella, C, Scotto, L, Giannini, G, Frati, L, Masciocchi, C, Tombolini, V, Gulino, A & Martinotti, S 2003, 'New mutations and protein variants of NBSI are identified in cancer cell lines', Genes Chromosomes and Cancer, vol. 36, no. 2, pp. 198-204. https://doi.org/10.1002/gcc.10145
Tessitore A, Biordi L, Flati V, Toniato E, Marchetti P, Ricevuto E et al. New mutations and protein variants of NBSI are identified in cancer cell lines. Genes Chromosomes and Cancer. 2003 Feb 1;36(2):198-204. https://doi.org/10.1002/gcc.10145
Tessitore, Alessandra ; Biordi, Leda ; Flati, Vincenzo ; Toniato, Elena ; Marchetti, Paolo ; Ricevuto, Enrico ; Ficorella, Corrado ; Scotto, Luigi ; Giannini, Giuseppe ; Frati, Luigi ; Masciocchi, Carlo ; Tombolini, Vincenzo ; Gulino, Alberto ; Martinotti, Stefano. / New mutations and protein variants of NBSI are identified in cancer cell lines. In: Genes Chromosomes and Cancer. 2003 ; Vol. 36, No. 2. pp. 198-204.
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