Proteomics

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HBS1L-deficient retinal proteomics analysis revealing critical role of ribosomal rescue factor in the photoreceptor cell development


ABSTRACT: 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.

INSTRUMENT(S): Orbitrap Eclipse

ORGANISM(S): Mus Musculus (mouse)

TISSUE(S): Retina

DISEASE(S): Retinal Disease

SUBMITTER: Shiyu Luo  

LAB HEAD: Pankaj B Agrawal

PROVIDER: PXD045660 | Pride | 2024-07-25

REPOSITORIES: Pride

Dataset's files

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Action DRS
18766_tc_s975_F2A_JM8209.mzIdentML Mzid
18767_tc_s975_F1A_JM8208.mzIdentML Mzid
18768_tc_s975_F3A_JM8210.mzIdentML Mzid
18769_tc_s975_F7A_JM8214.mzIdentML Mzid
18770_tc_s975_F6A_JM8213.mzIdentML Mzid
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Publications

HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells.

Luo Shiyu S   Alwattar Bilal B   Li Qifei Q   Bora Kiran K   Blomfield Alexandra K AK   Lin Jasmine J   Fulton Anne A   Chen Jing J   Agrawal Pankaj B PB  

Disease models & mechanisms 20240730 8


Inherited retinal diseases encompass a genetically diverse group of conditions caused by variants in genes critical to retinal function, including handful of ribosome-associated genes. This study focuses on the HBS1L gene, which encodes for the HBS1-like translational GTPase that is crucial for ribosomal rescue. We have reported a female child carrying biallelic HBS1L variants, manifesting with poor growth and neurodevelopmental delay. Here, we describe the ophthalmologic findings in the patient  ...[more]

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