ArticleInvestigative ophthalmology & visual science2010
Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.
Article in Investigative ophthalmology & visual science, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 46 citations in OpenAlex.
- RNA-binding proteins in the mouse lens: Functional classifications, expression profiling, and interaction studies of Carhsp1 with crystallin mRNAs.Developmental biology · 2026Article
- Through theGenes · 2024Review
- Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.Genome medicine · 2024Article
- Multiomics Analysis Reveals Novel Genetic Determinants for Lens Differentiation, Structure, and Transparency.Biomolecules · 2023Review
- Stress Reactivity, Susceptibility to Hypertension, and Differential Expression of Genes in Hypertensive Compared to Normotensive Patients.International journal of molecular sciences · 2022Article
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
- Monocarboxylate Transporters (SLC16): Function, Regulation, and Role in Health and Disease.Pharmacological reviews · 2020Review
- Biology of Inherited Cataracts and Opportunities for Treatment.Annual review of vision science · 2019Review
- Decreased expression of SLC16A12 mRNA predicts poor prognosis of patients with clear cell renal cell carcinoma.Medicine · 2019Observational
- Clinical and Functional Relevance of the Monocarboxylate Transporter Family in Disease Pathophysiology and Drug Therapy.Clinical and translational science · 2018Review
- Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.Scientific reports · 2017Article
- Association of alpha A-crystallin polymorphisms with susceptibility to nuclear age-related cataract in a Han Chinese population.BMC ophthalmology · 2017Article
- Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.Journal of the American Society of Nephrology : JASN · 2016Article
- A Gel Formulation Containing a New Recombinant Form of Manganese Superoxide Dismutase: A Clinical Experience Based on Compassionate Use-Safety of a Case Report.Case reports in ophthalmological medicine · 2016Article
- Epigenetic Regulation of Werner Syndrome Gene in Age-Related Cataract.Journal of ophthalmology · 2015Article
- Molecular Genetics of Cataract.Progress in molecular biology and translational science · 2015Review
- Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.Human genomics · 2014Article
- X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Journal of inherited metabolic disease · 2014Review
- Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD).Age (Dordrecht, Netherlands) · 2013Article
- The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.Human molecular genetics · 2013Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
PURPOSE. Knowledge of genetic factors predisposing to age-related cataract is very limited. The aim of this study was to identify DNA sequences that either lead to or predispose for this disease. METHODS. The candidate gene SLC16A12, which encodes a solute carrier of the monocarboxylate transporter family, was sequenced in 484 patients with cataract (134 with juvenile cataract, 350 with age-related cataract) and 190 control subjects. Expression studies included luciferase reporter assay and RT-PCR experiments. RESULTS. One patient with age-related cataract showed a novel heterozygous mutation (c.-17A>G) in the 5'untranslated region (5'UTR). This mutation is in cis with the minor G-allele of the single nucleotide polymorphism (SNP) rs3740030 (c.-42T/G), also within the 5'UTR. Using a luciferase reporter assay system, a construct with the patient's haplotype caused a significant upregulation of luciferase activity. In comparison, the SNP G-allele alone promoted less activity, but that amount was still significantly higher than the amount of the common T-allele. Analysis of SLC16A12 transcripts in surrogate tissue demonstrated striking allele-specific differences causing 5'UTR heterogeneity with respect to sequence and quantity. These differences in gene expression were mirrored in an allele-specific predisposition to age-related cataract, as determined in a Swiss population (odds ratio approximately 2.2; confidence intervals, 1.23-4.3). CONCLUSIONS. The monocarboxylate transporter SLC16A12 may contribute to age-related cataract. Sequences within the 5'UTR modulate translational efficiency with pathogenic consequences.
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