PXD023704

PXD023704 is an original dataset announced via ProteomeXchange.

Title	Retinal proteomics of a mouse model of dystroglycanopathies shows changes in different photoreceptor regions
Description	Mutations in the POMT1 gene, encoding a protein O-mannosyltransferase essential for alpha-dystroglycan (α-DG) glycosylation, are frequently observed in a group of rare congenital muscular dystrophies, collectively known as dystroglycanopathies. However, it is hitherto unclear whether the effects seen in affected patients can be fully ascribed to α-DG hypoglycosylation. To study this, we here used comparative mass spectrometry-based proteomics and immunofluorescence microscopy, in order to investigate the changes in retina of mice in which Pomt1 is specifically knocked out in photoreceptor cells. Our results demonstrate significant proteomic changes and associated structural alteration in photoreceptor cells of Pomt1 cKO mice. In addition to effects related to impaired α-DG O-mannosylation, we observed morphological impairments in the outer segment that are associated with dysregulation of a relatively understudied POMT1 substrate (KIAA1549), BBSome proteins and retinal stress markers. In conclusion, our study provides new hypotheses to explain the phenotypic changes that are observed in the retina of patients with dystroglycanopathies.
HostingRepository	PRIDE
AnnounceDate	2021-09-10
AnnouncementXML	Submission_2021-09-10_00:11:13.206.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Yassene Mohammed
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	monohydroxylated residue; acetylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2021-01-20 07:25:41	ID requested
⏵ 1	2021-09-10 00:11:13	announced

Uribe ML, Mart, í, n-Nieto J, Quereda C, Rubio-Fern, á, ndez M, Cruces J, Janssen GMC, de Ru AH, van Veelen PA, Hensbergen PJ, Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors. J Proteome Res, 20(6):3268-3277(2021) [pubmed]

submitter keyword: mouse model, dystroglycanopathies, photoreceptor

Paul J. Hensbergen
contact affiliation	Center for Proteomics and Metabolomics; Leiden University Medical Center; 2333 ZA Leiden, The Netherlands
contact email	P.J.Hensbergen@lumc.nl
lab head
Yassene Mohammed
contact affiliation	LUMC/UVIC
contact email	y.mohammed@lumc.nl
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD023704
     1. Label: PRIDE project
     2. Name: Retinal proteomics of a mouse model of dystroglycanopathies shows changes in different photoreceptor regions