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@ARTICLE{Mller:298932,
      author       = {M. Müller and K. Zodel and B. A. Abhari and F. Cuomo and
                      S. Nizamuddin and P. Metzger and M. Börries$^*$ and H. T.
                      M. Timmers$^*$ and I. J. Frew$^*$},
      title        = {{KDM}5{C} and {KDM}5{D} mutations have different
                      consequences in clear cell renal cell carcinoma cells.},
      journal      = {Communications biology},
      volume       = {8},
      number       = {1},
      issn         = {2399-3642},
      address      = {London},
      publisher    = {Springer Nature},
      reportid     = {DKFZ-2025-00366},
      pages        = {244},
      year         = {2025},
      abstract     = {KDM5C is commonly mutated in clear cell renal cell
                      carcinomas (ccRCC) in men but rarely in women. Introducing
                      KDM5C mutation into two male and two female KDM5C wild-type
                      ccRCC cell lines caused different phenotypes and
                      non-overlapping transcriptional consequences, indicative of
                      context-dependent functions of KDM5C. We identify that loss
                      of the Y chromosome, harbouring the KDM5C homologue KDM5D,
                      occurs in most male KDM5C mutant ccRCCs. Mutation of KDM5D
                      in male 786-O cells prevented xenograft tumour formation and
                      this phenotype was unexpectedly rescued by co-mutation of
                      KDM5C, consistent with the co-occurrence of KDM5C mutation
                      and loss of the Y chromosome in ccRCC. Transcriptional
                      analyses showed that KDM5C and KDM5D regulate the expression
                      of both overlapping as well as distinct sets of genes. While
                      KDM5C and KDM5D bind to at least some overlapping genomic
                      sites, gene expression changes induced by KDM5C or KDM5D
                      mutation are apparently unrelated to the direct functions of
                      these proteins at the relevant gene promoters or enhancers.
                      Our findings identify similarities and differences in KDM5C
                      and KDM5D functions, challenging the idea that KDM5D in male
                      cells functions equivalently to the second KDM5C allele in
                      female cells, and implicate an interplay between KDM5C
                      mutation and Y chromosome loss in ccRCC development in men.},
      keywords     = {Carcinoma, Renal Cell: genetics / Carcinoma, Renal Cell:
                      pathology / Humans / Kidney Neoplasms: genetics / Kidney
                      Neoplasms: pathology / Histone Demethylases: genetics /
                      Histone Demethylases: metabolism / Mutation / Male / Female
                      / Cell Line, Tumor / Animals / Mice / Gene Expression
                      Regulation, Neoplastic / Chromosomes, Human, Y: genetics /
                      Minor Histocompatibility Antigens / KDM5C protein, human
                      (NLM Chemicals) / Histone Demethylases (NLM Chemicals) /
                      KDM5D protein, human (NLM Chemicals) / Minor
                      Histocompatibility Antigens (NLM Chemicals)},
      cin          = {FR01},
      ddc          = {570},
      cid          = {I:(DE-He78)FR01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39955388},
      pmc          = {pmc:PMC11830100},
      doi          = {10.1038/s42003-025-07695-8},
      url          = {https://inrepo02.dkfz.de/record/298932},
}