PXD045660-1

PXD045660 is an original dataset announced via ProteomeXchange.

Title	HBS1L-deficient retinal proteomics analysis revealing critical role of ribosomal rescue factor in the photoreceptor cell development
Description	Inherited retinal diseases (IRDs) encompass a genetically diverse group of conditions in which mutations in genes critical to retinal function lead to progressive loss of photoreceptor cells and subsequent visual impairment. A handful of ribosome-associated genes have been implicated in retinal disorders alongside neurological phenotypes. This study focuses on the HBS1L gene, encoding HBS1 Like Translational GTPase which has been recognized as a critical ribosomal rescue factor. Previously, we have reported a female child carrying biallelic HBS1L mutations, manifesting growth restriction, developmental delay, and hypotonia. In this study, we describe the ophthalmologic findings using the Hbs1ltm1a/tm1a hypomorph mouse model and evaluate the underlying microscopic and molecular perturbations. Hbs1ltm1a/tm1a mice exhibited profound retinal thinning of the entire retina, specifically of the outer retinal photoreceptor layer, detected using in vivo imaging of optical coherence tomography (OCT) and retinal cross sections. TUNEL assay revealed retinal degeneration due to extensive photoreceptor cell apoptosis. Loss of HBS1L resulted in comprehensive proteomic alterations in mass spectrometry analysis, with169 proteins upregulated and 480 proteins downregulated. GO biological process and GSEA analyses reveal that these downregulated proteins are primarily involved in photoreceptor cell development, cilium assembly, phototransduction, and aerobic respiration.
HostingRepository	PRIDE
AnnounceDate	2024-07-25
AnnouncementXML	Submission_2024-07-25_09:42:36.993.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Shiyu Luo
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	TMT6plex-126 reporter+balance reagent acylated residue
Instrument	Orbitrap Eclipse

Revision	Datetime	Status	ChangeLog Entry
0	2023-09-25 08:45:29	ID requested
⏵ 1	2024-07-25 09:42:37	announced

10.1242/dmm.050557;

Luo S, Alwattar B, Li Q, Bora K, Blomfield AK, Lin J, Fulton A, Chen J, Agrawal PB, HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells. Dis Model Mech, 17(8):(2024) [pubmed]

submitter keyword: HBS1L, retinal degeneration, ribosomal rescue

Pankaj B Agrawal
contact affiliation	Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children’s Hospital, Jackson Health System, Miami, FL, USA.
contact email	pagrawal@miami.edu
lab head
Shiyu Luo
contact affiliation	University of Miami
contact email	sxl4463@med.miami.edu
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD045660
     1. Label: PRIDE project
     2. Name: HBS1L-deficient retinal proteomics analysis revealing critical role of ribosomal rescue factor in the photoreceptor cell development