Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene

Judson, Hannah; Roy, Nadine Van; Strain, Lisa; Vandesompele, Jo; Gele, Mireille Van; Speleman, Frank; Bonthron, David T.

doi:10.1007/s004390000257

Cited by 31 publications

(17 citation statements)

References 35 publications

(43 reference statements)

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“…However, these studies have not identified a consistent region of deletion. Furthermore, these and other studies have proposed over 20 genes within these regions as candidate neuroblastoma tumor suppressors, none of which have yet been proven to play a significant causative role in neuroblastoma tumor development (Ejeskar et al, 2000;Judson et al, 2000;De Toledo et al, 2001;Huang et al, 2001;Abel et al, 2002;Cerignoli et al, 2002;Krona et al, 2003;Thompson et al, 2003;Mathysen et al, 2004). Our current work was designed to determine the location and extent of 1p deletion in a very large primary tumor cohort by extensive genotyping, sequencing, gene identification, and transcript characterization.…”

Section: Discussionmentioning

confidence: 99%

Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma

et al. 2004

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Substantial genomic and functional evidence from primary tumors and cell lines indicates that a consistent region of distal chromosome 1p is deleted in a sizable proportion of human neuroblastomas, suggesting that this region contains one or more tumor suppressor genes. To determine systematically and precisely the location and extent of 1p deletion in neuroblastomas, we performed allelic loss studies of 737 primary neuroblastomas and genotype analysis of 46 neuroblastoma cell lines. Together, the results defined a single region within 1p36.3 that was consistently deleted in 25% of tumors and 87% of cell lines. Two neuroblastoma patients had constitutional deletions of distal 1p36 that overlapped the tumor-defined region. The tumor-and constitutionally-derived deletions together defined a smallest region of consistent deletion (SRD) between D1S2795 and D1S253. The 1p36.3 SRD was deleted in all but one of the 184 tumors with 1p deletion. Physical mapping and DNA sequencing determined that the SRD minimally spans an estimated 729 kb. Genomic content and sequence analysis of the SRD identified 15 characterized, nine uncharacterized, and six predicted genes in the region. The RNA expression profiles of 21 of the genes were investigated in a variety of normal tissues. The SHREW1 and KCNAB2 genes both had tissue-restricted expression patterns, including expression in the nervous system. In addition, a novel gene (CHD5) with strong homology to proteins involved in chromatin remodeling was expressed mainly in neural tissues. Together, these results suggest that one or more genes involved in neuroblastoma tumorigenesis or tumor progression are likely contained within this region.

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Section: Discussionmentioning

confidence: 99%

Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma

et al. 2004

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“…Upon apoptosis induction, caspase cleaves the inhibitor and releases DFFB from the complex to enter into nuclei to degrade chromosomal DNA (Nagase et al, 2003). No somatic mutations of DFFB were detected in 41 neuroblastomas examined (Judson et al, 2000). However, aberrant DFFB transcripts resulting from splicing have been reported in hepatocellular carcinoma (Hsieh et al, 2003).…”

Section: Discussionmentioning

confidence: 99%

Identification of two contiguous minimally deleted regions on chromosome 1p36.31–p36.32 in oligodendroglial tumours

Dong

Pang

et al. 2004

Br J Cancer

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Loss of the short arm of chromosome 1 is a hallmark of oligodendroglial tumours (OTs). Deletion mapping studies in OTs have revealed multiple commonly deleted regions on chromosome 1p, suggesting that there are more than one tumour suppressor gene. To map critical deletion regions on 1p, a series of 25 OTs were examined for loss of heterozygosity (LOH) on 19 polymorphic markers across the 1p arm using microsatellite analysis. Our study revealed that 60% of tumours had LOH of all informative markers on 1p and identified one tumour showing LOH at telomeric markers only. Since this deletion region lies in one of the critical deletion intervals defined previously, we then screened another series of 27 OTs specifically at 1p36.3 for LOH using nine polymorphic markers. A total of 12% (six out of 52) of tumours were found to carry interstitial deletions. The allelic status and the deletion breakpoints in these tumours with interstitial deletion were further verified by fluorescent in situ hybridisation. The small overlapping intervals facilitated the delineation of two contiguous minimally deleted regions of 0.76 Mb, defined by D1S468 and D1S2845, and of 0.41 Mb, bound by D1S2893 and D1S1608, on 1p36.31 -36.32. Based on current reference human genome sequence these deletion regions have been sequenced almost to entirety and contain eight annotated genes. TP73, DFFB and SHREW1 are the only known genes located in these deletion regions, while the others are uncharacterised novel genes. In conclusion, our study has narrowed down the critical tumour suppressor loci on 1p36.3, in which two minimally deleted regions are mapped, and markedly reduced the number of candidate genes to be screened for their involvement in OT development.

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“…This gene is located at 1p36.3 and was shown to be a monoallelically expressed gene (reviewed in [152]) with maternal expression. Information about the imprinting of TP73 gene in cancers is still limited and contradictory [153].…”

Section: Predict Imprinted Genes and Bladder Cancermentioning

confidence: 99%

Loss of Imprinting as an Epigenetic Marker in Bladder Cancer

Reis¹,

Rainho²

2013

Advances in the Scientific Evaluation of Bladder Cancer and Molecular Basis for Diagnosis and Treatment

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Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene

Cited by 31 publications

References 35 publications

Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma

Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma

Identification of two contiguous minimally deleted regions on chromosome 1p36.31–p36.32 in oligodendroglial tumours

Loss of Imprinting as an Epigenetic Marker in Bladder Cancer

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