Chromosome bands 1p35-36 contain two distinct neuroblastoma tumor suppressor loci, one of which is imprinted

Caron, Huib N.; Spieker, Nicole; Godfried, Marc B.; Veenstra, Monique; Sluis, Peter van; Kraker, Jan de; Voûte, P. A.; Versteeg, Rogier

doi:10.1002/1098-2264(200102)30:2<168::aid-gcc1072>3.0.co;2-e

Cited by 56 publications

(26 citation statements)

References 22 publications

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“…The effect of DNA methylation and histone deacetylation events of 30 genes in the 1p36 chromosomal region extending from markers D1S508 and D1S244, bp 7 765 595 -11 019 814 (UCSC version, May 2004; URL: http://genome.ucsc.edu) were explored. This SRO of deletions is in agreement with SRO studies presented by other groups (Caron et al, 2001;Chen et al, 2001). Yet, other groups have presented SRO located more distal on 1p (Bauer et al, 2001;White et al, 2005).…”

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confidence: 93%

Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours

et al. 2007

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Chromosome 1p is frequently deleted in neuroblastoma (NB) tumours. The commonly deleted region has been narrowed down by loss of heterozygosity studies undertaken by different groups. Based on earlier mapping data, we have focused on a region on 1p36 (chr1: 7 765 595 -11 019 814) and performed an analysis of 30 genes by exploring features such as epigenetic regulation, that is DNA methylation and histone deacetylation, mutations at the DNA level and mRNA expression. Treatment of NB cell lines with the histone deacetylase inhibitor trichostatin A led to increased gene transcription of four of the 30 genes, ERRFI1 (MIG-6), PIK3CD, RBP7 (CRBPIV) and CASZ1, indicating that these genes could be affected by epigenetic downregulation in NBs. Two patients with nonsynonymous mutations in the PIK3CD gene were detected. One patient harboured three variations in the same exon, and p.R188W. The other patient had the variation p.M655I. In addition, synonymous variations and one variation in an intronic sequence were also found. The mRNA expression of this gene is downregulated in unfavourable, compared to favourable, NBs. One nonsynonymous mutation was also identified in the ERRFI1 gene, p.N343S, and one synonymous. None of the variations above were found in healthy control individuals. In conclusion, of the 30 genes analysed, the PIK3CD gene stands out as one of the most interesting for further studies of NB development and progression.

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confidence: 93%

Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours

et al. 2007

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“…We narrowed the maximal SRD to between D1S2660 distally and D1S214 proximally, or about 2 Mb. This region is overlapped by the SRD identified by most other groups mapping 1p deletions in neuroblastomas (Schleiermacher et al, 1994;Takeda et al, 1994;Caron et al, 1995Caron et al, , 2001Cheng et al, 1995;Gehring et al, 1995;Martinsson et al, 1995Martinsson et al, , 1997Bauer et al, 2001). Furthermore, the proximal and distal boundaries of our SRD on 1p36 were defined by two cases each, indicating that the region we defined contains at least one neuroblastoma TSG.…”

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confidence: 50%

Expression and sequence analysis of candidates for the 1p36.31 tumor suppressor gene deleted in neuroblastomas

et al. 2007

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Neuroblastomas are characterized by 1p deletions, suggesting that a tumor suppressor gene (TSG) resides in this region. We have mapped the smallest region of deletion (SRD) to a 2 Mb region of 1p36.31 using microsatellite and single nucleotide polymorphisms. We have identified 23 genes in this region, and we have analysed these genes for mutations and RNA expression patterns to identify candidate TSGs. We sequenced the coding exons of these genes in 30 neuroblastoma cell lines. Although rare mutations were found in 10 of the 23 genes, none showed a pattern of genetic change consistent with homozygous inactivation. We examined the expression of these 23 genes in 20 neuroblastoma cell lines, and most showed readily detectable expression, and no correlation with 1p deletion. However, 7 genes showed uniformly low expression in the lines, and 2 genes (CHD5, RNF207) had virtually absent expression, consistent with the expected pattern for a TSG. Our mutation and expression analysis in neuroblastoma cell lines, combined with expression analysis in normal tissues, putative function and prior implication in neuroblastoma pathogenesis, suggests that the most promising TSG deleted from the 1p36 SRD is CHD5, but TNFRSF25, CAMTA1 and AJAP1 are also viable candidates.

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“…SAGE libraries of 3 neuroblastoma tumours and 6 neuroblastoma cell lines with different genetic defects have been established in our laboratory. 23,24 In total 380,909 tags were sequenced from 9 neuroblastoma SAGE libraries. Since neuroblastoma is a childhood tumour, these SAGE libraries were analysed for expression of developmental control genes.…”

Section: Mrna Expression Of Members Of the Delta-notch Pathway In Neumentioning

confidence: 99%

High delta‐like 1 expression in a subset of neuroblastoma cell lines corresponds to a differentiated chromaffin cell type

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Sluis

et al. 2003

Intl Journal of Cancer

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Chromosome bands 1p35-36 contain two distinct neuroblastoma tumor suppressor loci, one of which is imprinted

Cited by 56 publications

References 22 publications

Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours

Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours

Expression and sequence analysis of candidates for the 1p36.31 tumor suppressor gene deleted in neuroblastomas

High delta‐like 1 expression in a subset of neuroblastoma cell lines corresponds to a differentiated chromaffin cell type

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