Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations

Translational Vision Science & Technology
Scott H GreenwaldMaureen Neitz

Abstract

Human long (L) and middle (M) wavelength cone opsin genes are highly variable due to intermixing. Two L/M cone opsin interchange mutants, designated LIAVA and LVAVA, are associated with clinical diagnoses, including red-green color vision deficiency, blue cone monochromacy, cone degeneration, myopia, and Bornholm Eye Disease. Because the protein and splicing codes are carried by the same nucleotides, intermixing L and M genes can cause disease by affecting protein structure and splicing. Genetically engineered mice were created to allow investigation of the consequences of altered protein structure alone, and the effects on cone morphology were examined using immunohistochemistry. In humans and mice, cone function was evaluated using the electroretinogram (ERG) under L/M- or short (S) wavelength cone isolating conditions. Effects of LIAVA and LVAVA genes on splicing were evaluated using a minigene assay. ERGs and histology in mice revealed protein toxicity for the LVAVA but not for the LIAVA opsin. Minigene assays showed that the dominant messenger RNA (mRNA) was aberrantly spliced for both variants; however, the LVAVA gene produced a small but significant amount of full-length mRNA and LVAVA subjects had correspondingly reduce...Continue Reading

Citations

Dec 6, 2018·Investigative Ophthalmology & Visual Science·Alexander SumarokaSamuel G Jacobson
Jan 14, 2020·The Cochrane Database of Systematic Reviews·Jeffrey J WallineJ Daniel Twelker
May 14, 2020·Journal of the Optical Society of America. A, Optics, Image Science, and Vision·Maureen NeitzRigmor C Baraas
Aug 22, 2018·Investigative Ophthalmology & Visual Science·Emily J PattersonMichel Michaelides
Jun 30, 2019·Vision Research·Lene A HagenRigmor C Baraas
Jun 20, 2020·Progress in Retinal and Eye Research·Nicole WeisschuhBernd Wissinger
Apr 29, 2021·Investigative Ophthalmology & Visual Science·Ian G MorganJeremy A Guggenheim
Sep 22, 2021·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Ping ZhuWen-Tao Deng

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Methods Mentioned

BETA
ESR
genotyping
PCR
electrophoresis
protein folding

Software Mentioned

Adobe Photoshop
Image J
Human Splicing Finder ( HSF )
RNAsnp webtool

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