ArticleInvestigative ophthalmology & visual science2016
Somatic Variants in the Human Lens Epithelium: A Preliminary Assessment.
Article in Investigative ophthalmology & visual science, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Low-dose radiation exposure and risk of self-reported cataract in Fukushima nuclear emergency workers.International journal of epidemiology · 2026Article
- The aging mouse lens transcriptome.Experimental eye research · 2021Article
- A comprehensive spatial-temporal transcriptomic analysis of differentiating nascent mouse lens epithelial and fiber cells.Experimental eye research · 2018Article
- The lens growth process.Progress in retinal and eye research · 2017Review
- A full lifespan model of vertebrate lens growth.Royal Society open science · 2017Article
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5 authors.
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Abstract
purposeWe hypothesize that somatic mutations accumulate in cells of the human lens and may contribute to the development of cortical or posterior sub-capsular cataracts. Here, we used a Next-generation sequencing (NGS) strategy to screen for low-allelic frequency variants in DNA extracted from human lens epithelial samples.
methodsNext-Generation sequencing of 151 cancer-related genes (WUCaMP2 panel) was performed on DNA extracted from post-mortem or surgical specimens obtained from 24 individuals. Usually, pairwise comparisons were made between two or more ocular samples from the same individual, allowing putative somatic variants detected in lens samples to be differentiated from germline variants.
resultsUse of a targeted hybridization approach enabled high sequence coverage (>1000-fold) of the WUCaMP2 genes. In addition to high-frequency variants (corresponding to homozygous or heterozygous SNPs and Indels), somatic variants with allelic frequencies of 1-4% were detected in the lens epithelial samples. The presence of one such variant, a T > C point substitution at position 32907082 in BRCA2, was verified subsequently using droplet digital PCR.
conclusionsLow-allelic fraction variants are present in the human lens epithelium, at frequencies consistent with the presence of millimeter-sized clones.
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