PXD042441

PXD042441 is an original dataset announced via ProteomeXchange.

Title	Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide clues as to their pathogenesis and therapeutic targeting
Description	PHF6 mutations (PHF6MT) are identified in various myeloid neoplasms (MN). However, little is known about the precise function and consequences of PHF6 in MN. Our comprehensive genomic analyses focused on three main findings. Firstly, we revealed a different pattern of genes correlating with PHF6MT in male and female cases. When analyzing male and female cases separately, in only male cases, RUNX1 and U2AF1 were co-mutated with PHF6. In contrast, female cases revealed co-occurrence of ASXL1 mutations and X-chromosome deletions with PHF6MT. Next, proteomics analysis revealed a direct interaction between PHF6 and the pioneer transcription factor RUNX1. Both proteins co-localize in active enhancer regions that define the context of lineage differentiation. Finally, we demonstrated a negative prognostic role of PHF6MT, especially in association with RUNX1. The negative effects on survival were additive as PHF6MT cases with RUNX1 mutations had worse outcomes when compared to cases carrying single mutation or wild-type.
HostingRepository	PRIDE
AnnounceDate	2023-11-21
AnnouncementXML	Submission_2023-11-21_14:46:05.555.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Xiaorong Gu
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	LTQ Orbitrap Elite

Revision	Datetime	Status	ChangeLog Entry
0	2023-05-23 10:29:06	ID requested
⏵ 1	2023-11-21 14:46:05	announced

Dataset with its publication pending

submitter keyword: Human, LC-MSMS, PHF6, AML

Jaroslaw P. Maciejewski
contact affiliation	Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA
contact email	maciejj@ccf.org
lab head
Xiaorong Gu
contact affiliation	Cleveland Clinic
contact email	gux@ccf.org
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2023/11/PXD042441

PRIDE project URI

• PRIDE
  1. PXD042441
     1. Label: PRIDE project
     2. Name: Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide clues as to their pathogenesis and therapeutic targeting