Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The distal portion of chromosome 1p is frequently deleted in several human cancers, suggesting the presence of one or more putative tumor suppressor genes on this chromosomal arm. In human neuroblastoma, a consistently deleted region at 1p36.1-p36.2 has been defined by comparison of molecular loss of heterozygosity (LOH) analyses. Recently we described the identification of a yeast artificial chromosome, YAC 927G4, that spans a translocation/duplication breakpoint within the minimally defined LOH region at 1p36.1-p36.2 in the neuroblastoma cell line NGP. Here we describe the identification of two overlapping P1 artificial chromosomes comprising 220 kb at the distal end of YAC 927G4, which we have used as hybridization probes under modified conditions to screen a composite, normalized cDNA library (IMAGE cDNA library). Hybridization screening resulted in the rapid and comprehensive identification of partial cDNAs of which a portion comprised two novel candidate genes, termed DNB1/ARPh and DNB5, which encode putative proteins of 1011 and 447 amino acids, respectively. The DNB1/ARPh gene, which was found to be ubiquitously expressed in human adult and fetal tissues, is highly related to the DRPLA gene, in which expansion of a CAG triplet appears to be causal in the dentatorubral and pallidolysian atrophy disease phenotype. The DNB5 sequence, in contrast, which is predominantly expressed in brain tissues and fetal kidney, failed to show any similarity to sequences in the public domain. A preliminary assessment of transcription and sequence of both genes in several neuroblastoma cell lines does not, thus far, support a causal role in neuroblastoma. However, further analyses are required to confirm these results.
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PMID:Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP. 1072 26

We have analyzed the short arm of chromosome 1 using loss of heterozygosity (LOH) analysis in Wilms tumors (WT) to identify a minimal region of loss. 1909 WT, 22 malignant rhabdoid tumors of the kidney and 90 clear cell carcinomas of the kidney (CCSK) were subjected to LOH analysis using five markers flanked by D1S243 and D1S244. 225 WT and 4 CCSK displayed LOH for this region. A group of 16 cases which had lost heterozygosity for at least one locus but also retained heterozygosity for at least one locus within this region were more finely analyzed using a panel of 24 microsatellite markers. A minimum region of loss located between D1S2694 and D1S244 spanning an area of 3.23 Mb was found in 15/16 of these tumors. No evidence for a second locus within this region was identified. This region of loss overlaps that found in neuroblastoma and harbors candidate genes highly expressed in fetal kidney i.e., LZIC, ICAT, and DNB5. Denaturing HPLC and quantitative RT-PCR analysis of these three genes, however, revealed no aberrations in WT samples retaining heterozygosity (8 cases) or displaying LOH 1p (8 cases). Further studies are required to identify the presumed tumor suppressor gene located within this region of 1p.
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PMID:Identification of a minimal region of loss on the short arm of chromosome 1 in Wilms tumor. 1724 64