Human Gene Set: SUZUKI_CTCFL_TARGETS_UP

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

Standard name SUZUKI_CTCFL_TARGETS_UP
Systematic name M2479
Brief description Genes up-regulated in testis tissue upon knockout of CTCFL [GeneID=140690].
Full description or abstract Previously, it was shown that the CTCF paralogous gene, BORIS (brother of the regulator of imprinted sites) is expressed in male germ cells, but its function in spermatogenesis has not been defined. To develop an understanding of the functional activities of BORIS, we generated BORIS knockout (KO) mice. Mice homozygous for the null allele had a defect in spermatogenesis that resulted in small testes associated with increased cell death. The defect was evident as early as postnatal day 21 and was manifested by delayed production of haploid cells. By gene expression profiling, we found that transcript levels for Gal3st1 (also known as cerebroside sulfotransferase [CST]), known to play a crucial role in meiosis, were dramatically reduced in BORIS KO testes. We found that CST is expressed in testis as a novel testis-specific isoform, CST form F(TS), that has a short exon 1f. We showed that BORIS bound to and activated the promoter of CST form F(TS). Mutation of the BORIS binding site in the promoter reduced the ability of BORIS to activate the promoter. These findings define transcriptional regulation of CST expression as a critical role for BORIS in spermatogenesis.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 20231363   Authors: Suzuki T,Kosaka-Suzuki N,Pack S,Shin DM,Yoon J,Abdullaev Z,Pugacheva E,Morse HC 3rd,Loukinov D,Lobanenkov V
Exact source Fig. 2S: red
Related gene sets (show 24 gene sets from the same authors)
External links
Filtered by similarity ?
Source species Mus musculus
Contributed by Arthur Liberzon (MSigDB Team)
Source platform or
identifier namespace
MOUSE_GENE_SYMBOL
Dataset references (show 1 datasets)
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 ? NG-CHM interactive heatmaps
(Please note that clustering takes a few seconds)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)

Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 13 genes
Gene families ? Categorize these 13 genes by gene family
Show members (show 18 source identifiers mapped to 13 genes)
Version history 3.1: First introduced

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