Gene Set: OKAWA_NEUROBLASTOMA_1P36_31_DELETION

Standard name OKAWA_NEUROBLASTOMA_1P36_31_DELETION
Systematic name M4786
Brief description Genes in the smallest region of deletion (SRD) in 1p36.3 area in neuroblastoma samples.
Full description or abstract 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.
Collection C2: curated gene sets
      CGP: chemical and genetic perturbations
Source publication Pubmed 17667943   Authors: Okawa ER,Gotoh T,Manne J,Igarashi J,Fujita T,Silverman KA,Xhao H,Mosse YP,White PS,Brodeur GM
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Organism Homo sapiens
Contributed by Jessica Robertson (MSigDB Team)
Source platform HUMAN_GENE_SYMBOL
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Version history 3.0: First introduced

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