Human Gene Set: LEE_TARGETS_OF_PTCH1_AND_SUFU_DN

For the Mouse gene set with the same name, see LEE_TARGETS_OF_PTCH1_AND_SUFU_DN

Standard name LEE_TARGETS_OF_PTCH1_AND_SUFU_DN
Systematic name M16478
Brief description Genes down-regulated in medulloblastoma tumors from animals with inactivating mutations of one copy of PTCH1 or SUFU [GeneID=5727;51684] in conjunction with TP53 [GeneID=7157] loss.
Full description or abstract The Sonic Hedgehog (SHH) signaling pathway is indispensable for development, and functions to activate a transcriptional program modulated by the GLI transcription factors. Here, we report that loss of a regulator of the SHH pathway, Suppressor of Fused (Sufu), resulted in early embryonic lethality in the mouse similar to inactivation of another SHH regulator, Patched1 (Ptch1). In contrast to Ptch1+/- mice, Sufu+/- mice were not tumor prone. However, in conjunction with p53 loss, Sufu+/- animals developed tumors including medulloblastoma and rhabdomyosarcoma. Tumors present in Sufu+/-p53-/- animals resulted from Sufu loss of heterozygosity. Sufu+/-p53-/- medulloblastomas also expressed a signature gene expression profile typical of aberrant SHH signaling, including upregulation of N-myc, Sfrp1, Ptch2 and cyclin D1. Finally, the Smoothened inhibitor, hedgehog antagonist, did not block growth of tumors arising from Sufu inactivation. These data demonstrate that Sufu is essential for development and functions as a tumor suppressor.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 17452975   Authors: Lee Y,Kawagoe R,Sasai K,Li Y,Russell HR,Curran T,McKinnon PJ
Exact source Fig 1S: DOWN in medulloblastoma, UP in cerebellum
Related gene sets (show 1 additional gene sets from the source publication)

(show 100 gene sets from the same authors)
External links
Filtered by similarity ?
Source species Mus musculus
Contributed by Jessica Robertson (MSigDB Team)
Source platform or
identifier namespace		 AFFY_Mouse430
Dataset references  
Download gene set format: grp | gmt | xml | json | TSV metadata
Compute overlaps ? (show collections to investigate for overlap with this gene set)
Compendia expression profiles ? GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 87 genes
Gene families ? Categorize these 87 genes by gene family
Show members (show 115 source identifiers mapped to 87 genes)
Version history 3.0: First introduced

See MSigDB license terms here. Please note that certain gene sets have special access terms.