A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes.
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...
Guardado en:
| Autores principales: | , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2008
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/e7cc421eb57747089ecc99adae570a6c |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:e7cc421eb57747089ecc99adae570a6c |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:e7cc421eb57747089ecc99adae570a6c2021-11-25T06:12:22ZA constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes.1932-620310.1371/journal.pone.0002207https://doaj.org/article/e7cc421eb57747089ecc99adae570a6c2008-05-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18493581/?tool=EBIhttps://doaj.org/toc/1932-6203The 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.Karl VandepoeleVanessa AndriesNadine Van RoyKatrien StaesJo VandesompeleGeneviève LaureysEls De SmetGeert BerxFrank SpelemanFrans van RoyPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 3, Iss 5, p e2207 (2008) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Karl Vandepoele Vanessa Andries Nadine Van Roy Katrien Staes Jo Vandesompele Geneviève Laureys Els De Smet Geert Berx Frank Speleman Frans van Roy A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes. |
| description |
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. |
| format |
article |
| author |
Karl Vandepoele Vanessa Andries Nadine Van Roy Katrien Staes Jo Vandesompele Geneviève Laureys Els De Smet Geert Berx Frank Speleman Frans van Roy |
| author_facet |
Karl Vandepoele Vanessa Andries Nadine Van Roy Katrien Staes Jo Vandesompele Geneviève Laureys Els De Smet Geert Berx Frank Speleman Frans van Roy |
| author_sort |
Karl Vandepoele |
| title |
A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes. |
| title_short |
A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes. |
| title_full |
A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes. |
| title_fullStr |
A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes. |
| title_full_unstemmed |
A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes. |
| title_sort |
constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human nbpf1 and accn1 genes. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2008 |
| url |
https://doaj.org/article/e7cc421eb57747089ecc99adae570a6c |
| work_keys_str_mv |
AT karlvandepoele aconstitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT vanessaandries aconstitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT nadinevanroy aconstitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT katrienstaes aconstitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT jovandesompele aconstitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT genevievelaureys aconstitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT elsdesmet aconstitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT geertberx aconstitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT frankspeleman aconstitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT fransvanroy aconstitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT karlvandepoele constitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT vanessaandries constitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT nadinevanroy constitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT katrienstaes constitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT jovandesompele constitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT genevievelaureys constitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT elsdesmet constitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT geertberx constitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT frankspeleman constitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes AT fransvanroy constitutionaltranslocationt117p362q112inaneuroblastomapatientdisruptsthehumannbpf1andaccn1genes |
| _version_ |
1718414077479354368 |