Mutations in the rhodopsin cause of retinitis pigmentosa autosomal dominant (ADRP). We report a large family affected with ADRP. Analysis by denaturant gradient gel electrophoresis and direct DNA sequence detected an heterozygous G to T transversion in the exon 3 of the rhodopsin gene. This mutation damages a restriction site for Taq I enzyme and produces the change Asp-190-Tyr in rhodopsin. All carriers of the mutation show a regional RP phenotype. This mutation is responsible for the disease in this family.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Targeted knockdown of ATM, ATR, and PDEδ increases Gag HIV-1 VLP production in HEK293 cells.
Appl Microbiol Biotechnol
January 2025
Grup d'Enginyeria de Bioprocessos i Biocatàlisi Aplicada, ENG4BIO, Escola d'Enginyeria, Universitat Autònoma de Barcelona, Campus de Bellaterra, Cerdanyola del Vallès, 08193, Barcelona, Spain.
Several strategies have been developed in recent years to improve virus-like particle (VLP)-based vaccine production processes. Among these, the metabolic engineering of cell lines has been one of the most promising approaches. Based on previous work and a proteomic analysis of HEK293 cells producing Human Immunodeficiency Virus-1 (HIV-1) Gag VLPs under transient transfection, four proteins susceptible of enhancing VLP production were identified: ataxia telangiectasia mutated (ATM), ataxia telangiectasia and rad3-related (ATR), DNA-dependent protein kinase catalytic subunit (DNA-PKcs), and retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta (PDEδ).
View Article and Find Full Text PDFThe G Protein-Coupled Receptor-Related Gene Signatures for Diagnosis and Prognosis in Glioblastoma: A Deep Learning Model Using RNA-Seq Data.
Asian Pac J Cancer Prev
December 2024
Proteomics Research Center, Faculty of Paramedical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Glioblastoma (GBM) is the most aggressive cancer in the central nervous system in glial cells. Finding novel biomarkers in GBM offers numerous advantages that can contribute to early detection, personalized treatment, improved patient outcomes, and advancements in cancer research and drug development. Integrating machine learning with RNAseq data in medicine holds significant potential for identifying novel biomarkers in various diseases, including cancer.
View Article and Find Full Text PDFInterruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease.
Sci Rep
December 2024
INCI-UPR3212-CNRS, 8 Allée du Général Rouvillois, 67000, Strasbourg, France.
Mutations in the gene ABCA4 coding for photoreceptor-specific ATP-binding cassette subfamily A member 4, are responsible for Stargardts Disease type 1 (STGD1), the most common form of inherited macular degeneration. STGD1 typically declares early in life and leads to severe visual handicap. Abca4 gene-deletion mouse models of STGD1 accumulate lipofuscin, a hallmark of the disease, but unlike the human disease show no or only moderate structural changes and no functional decline.
View Article and Find Full Text PDFIn honor of Bill Pak: my journey to the discovery of a rhodopsin gene.
J Neurogenet
December 2024
Department of Biological Sciences, University of Notre Dame, Notre Dame, IN, USA.
In vivo adenine base editing ameliorates Rho-associated autosomal dominant retinitis pigmentosa.
J Genet Genomics
December 2024
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, Guangdong 510275, China; Key Laboratory of Reproductive Medicine of Guangdong Province, the First Affiliated Hospital and School of Life Sciences, Sun Yat-sen University, Guangzhou, Guangdong 510275, China. Electronic address:
Mutations in the Rhodopsin (RHO) gene are the main cause of autosomal dominant retinitis pigmentosa (adRP), 84% of which are pathogenic gain-of-function point mutations. Treatment strategies for adRP typically involve silencing or ablating the pathogenic allele, while normal RHO protein replacement has no meaningful therapeutic benefit. Here, we present an adenine base editor (ABE)-mediated therapeutic approach for adRP caused by RHO point mutations in vivo.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!