PXD067854-1

PXD067854 is an original dataset announced via ProteomeXchange.

Title	BCOR mutations deregulate cell cycle and hypoxic adaptation pathways in retinoblastoma
Description	Retinoblastoma (RB) is the most common pediatric eye cancer. Most cases of RB are initiated by bi-allelic mutational inactivation of the RB1 gene, yet most RB tumors harbor additional genomic aberrations that may promote tumor progression. After RB1, the gene that is most commonly mutated gene in RB is BCOR, which is mutated in approximately 20% of RB tumors and is associated with a more aggressive tumor phenotype and worse patient outcomes. Despite its importance, little is known about the role of BCOR in RB. Here, we interrogated BCOR in low passage RB cell lines using mass spectrometry, chromatin immunoprecipitation sequencing, and RNA sequencing. We show that the BCOR protein interacts with members of the ncPRC1.1 Polycomb Repressive Complex and localizes at gene loci with traditionally activating and repressing chromatin markers. Loss of BCOR downregulates the expression of genes associated with cell cycle regulation and upregulates genes associated with hypoxic adaptation. We conclude that BCOR mutations slow cell proliferation and drive hypoxic adaptation in RB via epigenetic mechanisms that may be amenable to targeted therapy. BCOR pulldowns are compared with IgG controls for 3 cell lines (RB006, RB026, and RB028).
HostingRepository	PRIDE
AnnounceDate	2026-01-12
AnnouncementXML	Submission_2026-01-11_16:13:38.171.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD067854
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	John Koomen
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationList	monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2025-08-28 12:55:38	ID requested
⏵ 1	2026-01-11 16:13:39	announced

10.6019/PXD067854;

Zhang MG, Kuznetsoff JN, Cetta NC, Salazar S, Volonterio RL, Kurtenbach S, Correa ZM, Pelaez D, Harbour JW, BCOR mutations deregulate cell cycle and hypoxic adaptation pathways in retinoblastoma. Mol Cancer Res, ():(2025) [pubmed]

10.1158/1541-7786.mcr-24-1078;

submitter keyword: hypoxia, retinoblastoma,BCOR, cell cycle

J. William Harbour
contact affiliation	UT Southwestern Dallas, TX, USA
contact email	william.harbour@utsouthwestern.edu
lab head
John Koomen
contact affiliation	Moffitt Cancer Center
contact email	john.koomen@moffitt.org
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD067854
     1. Label: PRIDE project
     2. Name: BCOR mutations deregulate cell cycle and hypoxic adaptation pathways in retinoblastoma