{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Muller M"],"funding":["Deutsche Forschungsgemeinschaft (German Research Foundation)"],"pagination":["244"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11830100"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8(1)"],"pubmed_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 g"],"journal":["Communications biology"],"pubmed_title":["KDM5C and KDM5D mutations have different consequences in clear cell renal cell carcinoma cells."],"pmcid":["PMC11830100"],"funding_grant_id":["42490703","431984000","441891347","493802833"],"pubmed_authors":["Frew IJ","Muller M","Cuomo F","Boerries M","Abhari BA","Zodel K","Timmers HTM","Nizamuddin S","Metzger P"],"additional_accession":[]},"is_claimable":false,"name":"KDM5C and KDM5D mutations have different consequences in clear cell renal cell carcinoma cells.","description":"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 g","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Feb","modification":"2026-06-02T20:03:32.163Z","creation":"2025-04-07T07:50:03.741Z"},"accession":"S-EPMC11830100","cross_references":{"pubmed":["39955388"],"doi":["10.1038/s42003-025-07695-8"]}}