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A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes

Karl Vandepoele (UGent) , Vanessa Andries (UGent) , Nadine Van Roy (UGent) , Katrien Staes (UGent) , Jo Vandesompele (UGent) , Genevieve Laureys (UGent) , Els De Smet (UGent) , Geert Berx (UGent) , Franki Speleman (UGent) and Frans Van Roy (UGent)
(2008) PLOS ONE. 3(5).
Author
Organization
Abstract
The human 1p36 region is deleted in many different types of tumors, and so it probably harbors one or more tumor suppressor genes. In a Belgian neuroblastoma patient, a constitutional balanced translocation t(1;17)(p36.2;q11.2) may have led to the development of the tumor by disrupting or activating a gene. Here, we report the cloning of both translocation breakpoints and the identification of a novel gene that is disrupted by this translocation. This gene, named NBPF1 for Neuroblastoma BreakPoint Family member 1, belongs to a recently described gene family encoding highly similar proteins, the functions of which are unknown. The translocation truncates NBPF1 and gives rise to two chimeric transcripts of NBPF1 sequences fused to sequences derived from chromosome 17. On chromosome 17, the translocation disrupts one of the isoforms of ACCN1, a potential glioma tumor suppressor gene. Expression of the NBPF family in neuroblastoma cell lines is highly variable, but it is decreased in cell lines that have a deletion of chromosome 1p. More importantly, expression profiling of the NBPF1 gene showed that its expression is significantly lower in cell lines with heterozygous NBPF1 loss than in cell lines with a normal 1p chromosome. Meta-analysis of the expression of NBPF and ACCN1 in neuroblastoma tumors indicates a role for the NBPF genes and for ACCN1 in tumor aggressiveness. Additionally, DLD1 cells with inducible NBPF1 expression showed a marked decrease of clonal growth in a soft agar assay. The disruption of both NBPF1 and ACCN1 genes in this neuroblastoma patient indicates that these genes might suppress development of neuroblastoma and possibly other tumor types.

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MLA
Vandepoele, Karl, et al. “A Constitutional Translocation t(1;17)(P36.2;Q11.2) in a Neuroblastoma Patient Disrupts the Human NBPF1 and ACCN1 Genes.” PLOS ONE, vol. 3, no. 5, 2008, doi:10.1371/journal.pone.0002207.
APA
Vandepoele, K., Andries, V., Van Roy, N., Staes, K., Vandesompele, J., Laureys, G., … Van Roy, F. (2008). A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes. PLOS ONE, 3(5). https://doi.org/10.1371/journal.pone.0002207
Chicago author-date
Vandepoele, Karl, Vanessa Andries, Nadine Van Roy, Katrien Staes, Jo Vandesompele, Genevieve Laureys, Els De Smet, Geert Berx, Franki Speleman, and Frans Van Roy. 2008. “A Constitutional Translocation t(1;17)(P36.2;Q11.2) in a Neuroblastoma Patient Disrupts the Human NBPF1 and ACCN1 Genes.” PLOS ONE 3 (5). https://doi.org/10.1371/journal.pone.0002207.
Chicago author-date (all authors)
Vandepoele, Karl, Vanessa Andries, Nadine Van Roy, Katrien Staes, Jo Vandesompele, Genevieve Laureys, Els De Smet, Geert Berx, Franki Speleman, and Frans Van Roy. 2008. “A Constitutional Translocation t(1;17)(P36.2;Q11.2) in a Neuroblastoma Patient Disrupts the Human NBPF1 and ACCN1 Genes.” PLOS ONE 3 (5). doi:10.1371/journal.pone.0002207.
Vancouver
1.
Vandepoele K, Andries V, Van Roy N, Staes K, Vandesompele J, Laureys G, et al. A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes. PLOS ONE. 2008;3(5).
IEEE
[1]
K. Vandepoele et al., “A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes,” PLOS ONE, vol. 3, no. 5, 2008.
@article{526320,
  abstract     = {{The human 1p36 region is deleted in many different types of tumors, and so it probably harbors one or more tumor suppressor genes. In a Belgian neuroblastoma patient, a constitutional balanced translocation t(1;17)(p36.2;q11.2) may have led to the development of the tumor by disrupting or activating a gene. Here, we report the cloning of both translocation breakpoints and the identification of a novel gene that is disrupted by this translocation. This gene, named NBPF1 for Neuroblastoma BreakPoint Family member 1, belongs to a recently described gene family encoding highly similar proteins, the functions of which are unknown. The translocation truncates NBPF1 and gives rise to two chimeric transcripts of NBPF1 sequences fused to sequences derived from chromosome 17. On chromosome 17, the translocation disrupts one of the isoforms of ACCN1, a potential glioma tumor suppressor gene. Expression of the NBPF family in neuroblastoma cell lines is highly variable, but it is decreased in cell lines that have a deletion of chromosome 1p. More importantly, expression profiling of the NBPF1 gene showed that its expression is significantly lower in cell lines with heterozygous NBPF1 loss than in cell lines with a normal 1p chromosome. Meta-analysis of the expression of NBPF and ACCN1 in neuroblastoma tumors indicates a role for the NBPF genes and for ACCN1 in tumor aggressiveness. Additionally, DLD1 cells with inducible NBPF1 expression showed a marked decrease of clonal growth in a soft agar assay. The disruption of both NBPF1 and ACCN1 genes in this neuroblastoma patient indicates that these genes might suppress development of neuroblastoma and possibly other tumor types.}},
  articleno    = {{e2207}},
  author       = {{Vandepoele, Karl and Andries, Vanessa and Van Roy, Nadine and Staes, Katrien and Vandesompele, Jo and Laureys, Genevieve and De Smet, Els and Berx, Geert and Speleman, Franki and Van Roy, Frans}},
  issn         = {{1932-6203}},
  journal      = {{PLOS ONE}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{12}},
  title        = {{A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes}},
  url          = {{http://doi.org/10.1371/journal.pone.0002207}},
  volume       = {{3}},
  year         = {{2008}},
}

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