ArticlePloS one2008
A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes.
Article in PloS one, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 59 citations in OpenAlex.
- Olduvai Domains Downregulate Mitochondrial Pathways to Promote Human Brain Evolution and Neoteny.Research square · 2026Article
- Evolutionary Restructuring and Systematic Review of theJournal of developmental biology · 2026Review
- Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing.Molecular medicine (Cambridge, Mass.) · 2026Article
- Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders.Diagnostics (Basel, Switzerland) · 2025Article
- Article
- Olduvai domain expression downregulates mitochondrial pathways: implications for human brain evolution and neoteny.bioRxiv : the preprint server for biology · 2024Article
- Review
- Tandem NBPF 3mer HORs (Olduvai triplets) in Neanderthal and two novel HOR tandem arrays in human chromosome 1 T2T-CHM13 assembly.Scientific reports · 2023Article
- Tandemly repeated NBPF HOR copies (Olduvai triplets): Possible impact on human brain evolution.Life science alliance · 2023Article
- Metagenomic analysis of viral genes integrated in whole genome sequencing data of Thai patients with Brugada syndrome.Genomics & informatics · 2022Article
- Global gene expression analysis of systemic sclerosis myofibroblasts demonstrates a marked increase in the expression of multiple NBPF genes.Scientific reports · 2021Article
- Global Repeat Map (GRM): Advantageous Method for Discovery of Largest Higher-Order Repeats (HORs) in Neuroblastoma Breakpoint Family (NBPF) Genes, in Hornerin Exon and in Chromosome 21 Centromere.Progress in molecular and subcellular biology · 2021Article
- The somatic mutation landscape of Chinese Colorectal Cancer.Journal of Cancer · 2020Article
- Genetic susceptibility to neuroblastoma: current knowledge and future directions.Cell and tissue research · 2018Review
- NBPF7 promotes the proliferation of α-catenin-knockdown HaCaT cells via functional interaction with the NF-κB pathway.Oncotarget · 2017Article
- Constitutional 3p26.3 terminal microdeletion in an adolescent with neuroblastoma.Cancer biology & therapy · 2017Article
- Genetic susceptibility to neuroblastoma.Current opinion in genetics & development · 2017Review
- Changing the name of the NBPF/DUF1220 domain to the Olduvai domain.F1000Research · 2017Article
- Tumor-Suppressor Gene NBPF1 Inhibits Invasion and PI3K/mTOR Signaling in Cervical Cancer Cells.Oncology research · 2016Article
- NKX3.1 Suppresses TMPRSS2-ERG Gene Rearrangement and Mediates Repair of Androgen Receptor-Induced DNA Damage.Cancer research · 2015Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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