KDM5B

Overview

KDM5B (Lysine Demethylase 5B, also known as JARID1B or PLU1) is a histone H3K4me2/3 demethylase involved in transcriptional repression and chromatin remodeling. It plays roles in stem cell differentiation, cell cycle regulation, and cancer cell survival. KDM5B has been identified as a recurrently mutated chromatin-modifier in bladder transitional cell carcinoma and other solid tumors.

Alterations observed in the corpus

  • Somatic mutation as part of the histone demethylase KDM5A/KDM5B gene group, altered in 6% of transitional cell carcinoma (BLCA) bladder tumors; contributes to the 58% overall chromatin-remodeler mutation rate in the 99-tumor TCC cohort PMID:24121792

Cancer types (linked)

  • BLCA: somatic mutation in whole-exome sequencing of 99 Chinese TCC tumors; grouped with KDM5A as a histone demethylase alteration pair.

Co-occurrence and mutual exclusivity

  • Co-occurs with other chromatin-remodeling gene mutations in BLCA; 58% of TCC cases carried at least one chromatin-remodeler alteration PMID:24121792

Therapeutic relevance

  • Not directly targeted in the corpus; chromatin-remodeling gene mutations collectively implicate epigenetic therapeutic approaches in bladder cancer.

Open questions

  • Individual mutation frequencies and functional consequences of KDM5B alterations in TCC have not been separately characterized from the KDM5A/KDM5B grouping PMID:24121792

Sources

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