ArticleInvestigative ophthalmology & visual science2006
Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE.
Article in Investigative ophthalmology & visual science, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 6 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
56 citing papers in PubMed, 6 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.Communications biology · 2020Pooled it
- A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.Nature communications · 2018Pooled it
- Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.Nature genetics · 2017Pooled it
- Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.Nature communications · 2016Pooled it
- Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.Genetic epidemiology · 2015Pooled it
- Genomewide linkage scans for ocular refraction and meta-analysis of four populations in the Myopia Family Study.Investigative ophthalmology & visual science · 2009Pooled it
- Metabolic and Genetic Alterations in Early and Exudative Age-Related Macular Degeneration: Inosine, Amino Acids, andInternational journal of molecular sciences · 2026Article
- Single-Cell Gene Expression and eQTL Analyses in the Human Retina, RPE, and Choroid in Macular Degeneration.bioRxiv : the preprint server for biology · 2026Article
- Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.Molecular vision · 2025Review
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- Transcriptomic and Chromatin Accessibility Analysis of the Human Macular and Peripheral Retinal Pigment Epithelium at the Single-Cell Level.The American journal of pathology · 2023Article
- Single-cell RNA sequencing in vision research: Insights into human retinal health and disease.Progress in retinal and eye research · 2021Review
- The Pathophysiological Significance of Fibulin-3.Biomolecules · 2020Review
- Bone Morphogenetic Protein (BMP)4 But Not BMP2 Disrupts the Barrier Integrity of Retinal Pigment Epithelia and Induces Their Migration: A Potential Role in Neovascular Age-Related Macular Degeneration.Journal of clinical medicine · 2020Article
- Statistical driver genes as a means to uncover missing heritability for age-related macular degeneration.BMC medical genomics · 2020Article
- A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.Communications biology · 2020Article
- Amelotin is expressed in retinal pigment epithelium and localizes to hydroxyapatite deposits in dry age-related macular degeneration.Translational research : the journal of laboratory and clinical medicine · 2020Article
- The Utah Protocol for Postmortem Eye Phenotyping and Molecular Biochemical Analysis.Investigative ophthalmology & visual science · 2019Article
- Complete Transcriptome Profiling of Normal and Age-Related Macular Degeneration Eye Tissues Reveals Dysregulation of Anti-Sense Transcription.Scientific reports · 2018Article
- A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.Nature communications · 2017Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
purposeTo develop large-scale, high-throughput annotation of the human macula transcriptome and to identify and prioritize candidate genes for inherited retinal dystrophies, based on ocular-expression profiles using serial analysis of gene expression (SAGE).
methodsTwo human retina and two retinal pigment epithelium (RPE)/choroid SAGE libraries made from matched macula or midperipheral retina and adjacent RPE/choroid of morphologically normal 28- to 66-year-old donors and a human central retina longSAGE library made from 41- to 66-year-old donors were generated. Their transcription profiles were entered into a relational database, EyeSAGE, including microarray expression profiles of retina and publicly available normal human tissue SAGE libraries. EyeSAGE was used to identify retina- and RPE-specific and -associated genes, and candidate genes for retina and RPE disease loci. Differential and/or cell-type specific expression was validated by quantitative and single-cell RT-PCR.
resultsCone photoreceptor-associated gene expression was elevated in the macula transcription profiles. Analysis of the longSAGE retina tags enhanced tag-to-gene mapping and revealed alternatively spliced genes. Analysis of candidate gene expression tables for the identified Bardet-Biedl syndrome disease gene (BBS5) in the BBS5 disease region table yielded BBS5 as the top candidate. Compelling candidates for inherited retina diseases were identified.
conclusionsThe EyeSAGE database, combining three different gene-profiling platforms including the authors' multidonor-derived retina/RPE SAGE libraries and existing single-donor retina/RPE libraries, is a powerful resource for definition of the retina and RPE transcriptomes. It can be used to identify retina-specific genes, including alternatively spliced transcripts and to prioritize candidate genes within mapped retinal disease regions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.