PXD046827

PXD046827 is an original dataset announced via ProteomeXchange.

Title	Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2
Description	The primary cilium is a sensory organelle, receiving signals from the external environment and relaying them into the cell. Mutations in proteins required for transport in the primary cilium lead to ciliopathies, a group of genetic disorders that commonly lead to the malformation of organs such as the kidney, liver and eyes and skeletal deformation. Motor proteins dynein-2 and kinesin-2 mediate retrograde and anterograde transport in the cilium. WDR34, a dynein-2 intermediate chain, is required for the maintenance of cilia function. Here, we investigated WDR34 mutations, some as compound mutations with other dynein-2 or IFT proteins, identified in Jeune syndrome, Short-Rib Polydactyly Syndrome or Asphyxiating thoracic dysplasia patients by stably expressing the mutant proteins in WDR34 knockout cells. WDR34 mutations led to different spectrums of phenotypes. Here, we have used quantitative proteomics demonstrated changes in dynein-2 assembly. These data re[resent pilot experiments subsequently developed fully and deposited as PXD032758.
HostingRepository	PRIDE
AnnounceDate	2024-04-15
AnnouncementXML	Submission_2024-04-15_03:30:56.412.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	David Stephens
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Orbitrap Fusion Lumos

Revision	Datetime	Status	ChangeLog Entry
0	2023-11-09 14:53:12	ID requested
⏵ 1	2024-04-15 03:30:56	announced

10.1242/JCS.261816;

submitter keyword: Human, cilia, dynein-2

David Stephens
contact affiliation	School of Bioschemistry, University of Bristol, UK.
contact email	david.stephens@bristol.ac.uk
lab head
David Stephens
contact affiliation	University of Bristol
contact email	david.stephens@bristol.ac.uk
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/2024/04/PXD046827

PRIDE project URI

• PRIDE
  1. PXD046827
     1. Label: PRIDE project
     2. Name: Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2