Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders

Version 1 : Received: 7 July 2021 / Approved: 8 July 2021 / Online: 8 July 2021 (13:27:17 CEST)

How to cite: Neitz, M.; Neitz, J. Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders. Preprints 2021, 2021070202 (doi: 10.20944/preprints202107.0202.v1). Neitz, M.; Neitz, J. Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders. Preprints 2021, 2021070202 (doi: 10.20944/preprints202107.0202.v1).

Abstract

The first step in seeing is light absorption by photopigment molecules expressed in the photore-ceptors of the retina. There are two types of photoreceptors in the human retina that are respon-sible for image formation, rods and cones. Except at very low light levels when rods are active, all vision is based on cones. Cones mediate high acuity vision and color vision. Furthermore, they are critically important in the visual feedback mechanism that regulates refractive development of the eye during childhood. The human retina contains a mosaic of three cone types, short-wavelength (S), long-wavelength (L) and middle-wavelength (M); however, the vast major-ity (~94%) are L and M cones. The OPN1LW and OPN1MW genes, located on the X-chromosome at Xq28, encode the protein component of the light-sensitive photopigments. Here we review mechanism by which splicing defects in these genes cause vision disorders.

Subject Areas

colorblindness; color vision; myopia; cone photopigment; exon skipping; X-linked cone dysfunction

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