Molecular analysis of the region of distal 1p commonly deleted in Neuroblastoma

White, Peter S.; Maris, John M.; Sulman, Erik P.; Jensen, S. J.; Kyemba, S. M.; Beltinger, Christian; Allen, C. W.; Kramer, Deborah; Biegel, Jaclyn A.; Brodeur, Garrett M.

doi:10.1016/s0959-8049(97)00311-0

Cited by 34 publications

(28 citation statements)

References 20 publications

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“…Clinical manifestations and preliminary genetic analysis of these cases have been (Biegel et al, 1993;White et al, 1997). To determine the precise extent of the distal 1p regions deleted in these patients, genotyping of DNA from blood samples of the patients and corresponding parental samples was performed.…”

Section: Resultsmentioning

confidence: 99%

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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: Resultsmentioning

confidence: 99%

“…Cell lines were obtained from a variety of sources as previously described . Both constitutional deletion patients have been described previously (Biegel et al, 1993;White et al, 1997). Tumor and constitutional DNAs were isolated as described .…”

Section: Biological Samplesmentioning

confidence: 99%

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

et al. 2004

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“…In the process of mapping the commonly deleted region of 1p36.3 in human neuroblastomas White et al, 1997;Hogarty et al, 2000;Maris et al, 2001), we have encountered a novel member of the CHD gene family. This gene, called CHD5, has chromodomain, helicase, and DNA-binding motifs most similar to CHD3 and CHD4.…”

Section: Introductionmentioning

confidence: 99%

CHD5, a new member of the chromodomain gene family, is preferentially expressed in the nervous system

et al. 2003

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“…Abnormalities on the short arm of human chromosome 1 (1p) were frequently observed in NBs and were associated with a poor prognosis (Brodeur et al, 1981;Hayashi et al, 1989). Recent molecular studies have shown that a relatively high rate of loss of heterozygosity (LOH) is observed in 1p as well as in 2q, 9p, 11q, 14q, and 18q in NB (Cheng et al, 1995;Takita et al, 1995Takita et al, , 1997Takita et al, , 2000Caron et al, 1996;Schwab et al, 1996;White et al, 1997;Hoshi et al, 2000). The distribution of LOH of 1p is not random among NBs, suggesting the presence of at least two putative tumor suppressor genes in this region (Schleiermacher et al, 1994;Takeda et al, 1994;Caron et al, 1995).…”

Section: Introductionmentioning

confidence: 99%

Homozygous deletion in a neuroblastoma cell line defined by a high‐density STS map spanning human chromosome band 1p36

Chen

Soeda²,

Yang

et al. 2001

Genes Chromosomes & Cancer

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Recent molecular studies have shown a relatively high rate of loss of heterozygosity (LOH) in neuroblastoma (NB) as well as other types of tumors in human chromosome band 1p36. To identify candidate tumor suppressor genes in NB, we searched for homozygous deletions in NB cell lines with PCR according to a high-density sequence tagged site (STS)-content map spanning 1p35-36. Among 25 NB cell lines examined, only one cell line, NB-1, showed no signal with 27 STSs in a 480 kb region in 1p36.2. The sequence analysis has revealed that the defective region included seven known genes (E4, KIF1B, SCYA5, PGD, Cortistatin, DFF45, and PEX14), nine expressed sequence tags (ESTs), and two microsatellite markers. These genes are related to apoptosis, an ubiquitin-proteasome pathway, a neuronal microtubule-associated motor molecule, and components of a common translocation machinery. The region between the DFF45 and KIF1B genes was defined as homozygous deletion by Southern blotting. The search in LOH regions with high-density STSs may be useful for the isolation and identification of tumor suppressor genes in other tumors as well as NBs.

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Molecular analysis of the region of distal 1p commonly deleted in Neuroblastoma

Cited by 34 publications

References 20 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

CHD5, a new member of the chromodomain gene family, is preferentially expressed in the nervous system

Homozygous deletion in a neuroblastoma cell line defined by a high‐density STS map spanning human chromosome band 1p36

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