We recently identified optineurin (OPTN) as a novel gene for glaucoma and determined its mRNA and protein expression patterns in different human tissues. Herein, we describe the cloning, mapping, genomic organization, and mRNA and protein expression patterns for murine optineurin (Optn). We mapped Optn to chromosome 2, within a region that is syntenic to human 10p14. Optn has 13 coding exons and its exon-intron boundaries are evolutionarily conserved with human. Optn encodes an 884-amino-acid protein and shows 78% identity to OPTN. Northern blot analysis revealed three mRNA transcripts with highest expression in adult liver, heart, and testis and with earliest detectable message in 7-day-old embryos. In situ hybridization showed prominent ocular expression during mouse embryonic development. Optn colocalizes with vesicular structures near the nucleus and is expressed in anterior segment, retina, and optic nerve blood vessels. Gene and protein ocular profiling of Optn is a prerequisite for developing a mouse model for glaucoma.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ygeno.2004.10.011 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Tailoring Kidney Transplant Strategies: Unraveling the Impact of Acute Kidney Injury and Preservation Methods Across Different Strata of Kidney Risk.
Clin Transplant
January 2025
Division of Transplant Surgery, Department of Surgery, University of Washington, Seattle, Washington, USA.
Background: The use of donor kidneys with acute kidney injury (AKI) aims to expand the organ pool, but uncertainty remains regarding their outcomes across different Kidney Donor Profile Index (KDPI) groups and preservation methods.
Methods: We retrospectively analyzed 108 160 deceased donor kidney transplants from the OPTN database, focusing on adult recipients of kidneys from donors with or without AKI between December 2014 and December 2022. Propensity matching was used for each KDPI group (1-20, 21-59, 60-84, and 85-100), comparing donors with AKIN stages 0-1 to AKIN stages 2-3.
Genetic and clinical analysis of in amyotrophic lateral sclerosis.
J Med Genet
January 2025
Department of Neurology, Sichuan University, Chengdu, Sichuan, China
Background: Considerable heterogeneity in genotypes and phenotypes has been observed among patients with amyotrophic lateral sclerosis (ALS) harbouring optineurin gene () mutations, as reported in prior studies. The study aimed to elucidate the correlation between genotypes and phenotypes.
Methods: gene variants were screened within a substantial Chinese cohort of patients with ALS, encompassing LoF and rare missense variants.
It's Getting Better All the Time: Decreased Cumulative Incidence of Waitlist Mortality in Pediatric Candidates Following 2018 Heart Allocation Policy Change.
Pediatr Transplant
February 2025
Department of Surgery, NYU Grossman School of Medicine, New York, New York, USA.
Purpose: In October 2018, the OPTN changed adult heart transplant (HT) allocation policy, increasing the number of adult candidates that had higher priority than pediatric candidates, potentially disadvantaging pediatric waitlist registrants.
Methods: To understand the impact of this policy change, we used SRTR data to identify 1469 pre-policy (7/2016-9/2018) and 2901 (10/2018-12/2022) post-policy pediatric (< 18 years) HT registrants. We quantified mortality and transplant risks using weighted cause-specific hazard models, and then using weighted competing risks regression.
Amyloidosis and Heart Transplantation in a New Era.
Clin Transplant
January 2025
Department of Cardiovascular Medicine, Mayo Clinic in Arizona, Scottsdale, Arizona, USA.
Background: The prognosis in patients with advanced cardiac amyloidosis (CA) remains poor.
Objectives: We sought to describe survival post heart transplantation (HT) in amyloid compared with non-amyloid recipients, highlight waitlist times within the new allocation system across three Organ Procurement and Transplantation Network (OPTN) regions, and describe multiorgan transplantation (MOT) in hereditary amyloidosis.
Methods: This is a retrospective review of end-stage CA patients who underwent HT at Mayo Clinic from January 2007 to December 2020.
Hepatitis C Virus NS5A Activates Mitophagy Through Cargo Receptor and Phagophore Formation.
Pathogens
December 2024
Department of Biochemistry & Molecular Biology, Graduate Institute of Biomedical Sciences, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan.
Chronic HCV infection is a risk factor for end-stage liver disease, leading to a major burden on public health. Mitophagy is a specific form of selective autophagy that eliminates mitochondria to maintain mitochondrial integrity. HCV NS5A is a multifunctional protein that regulates the HCV life cycle and may induce host mitophagy.
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!