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Transcriptome analysis of the human corneal endothelium
Ricardo F Frausto1, Cynthia Wang1, Anthony J Aldave1
1The Jules Stein Eye Institute, David Geffen School of Medicine at the University of California-Los Angeles, Los Angeles, California, United States.
Investigative Ophthalmology & Visual Science
|November 8, 2014
Summary
This study characterized human corneal endothelial cell (HCEnC) gene expression, identifying nearly 13,000 genes and nine differentially expressed genes between pediatric and adult cells. This research aids in understanding corneal dystrophies like PPCD1, FECD4, and XECD.
Area of Science:
- Ophthalmology
- Genomics
- Molecular Biology
Background:
- Human corneal endothelial cells (HCEnCs) are crucial for corneal clarity.
- Understanding HCEnC gene expression is vital for diagnosing and treating corneal dystrophies.
- Age-related changes in HCEnC gene expression are not fully understood.
Purpose of the Study:
- To comprehensively characterize HCEnC gene expression.
- To identify age-dependent differential gene expression in HCEnCs.
- To map expressed genes to loci associated with posterior polymorphous corneal dystrophy 1 (PPCD1), Fuchs endothelial corneal dystrophy 4 (FECD4), and X-linked endothelial dystrophy (XECD).
Main Methods:
- Isolation of total RNA from pediatric and adult donor HCEnCs.
- Hybridization of complementary DNA to Affymetrix GeneChip 1.1ST arrays.
- Analysis using Partek Genomics Suite software and validation by digital molecular barcoding.
Main Results:
- Identification of transcripts for 12,596 genes in HCEnCs.
- Nine genes showed significant differential expression between pediatric and adult HCEnCs.
- Transcription was detected for a subset of protein-coding genes within the PPCD1, FECD4, and XECD loci.
Conclusions:
- The HCEnC transcriptome comprises nearly 13,000 genes, with a small fraction linked to known corneal dystrophy loci.
- Significant age-dependent differential gene expression highlights distinct functional properties of pediatric and adult HCEnCs.
- These findings provide a valuable resource for vision scientists studying HCEnC gene expression and the genetic basis of corneal dystrophies.
