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quantitative FRET analysis in acutely isolated cone OS revealed that the cone degeneration-causing V268I mutation in peripherin-2 selectively reduced binding to M-opsin without affecting the peripherin-2 interaction to S-opsin or rhodopsin
Here, the creation and validation of two lines of genetically engineered mice that can be used to study disease-causing variants of human L/M-opsins, in vivo, are described.
Luciferase expression driven by the midwavelength sensitive opsin intron 3-4 region was only slightly increased by THRB2, and rather enhanced by COUP-TFII.
ectopically expressed cTalpha 1) forms a heterotrimeric complex with rod Gbeta(1)gamma(1), and substitutes equally for rTalpha in generating photoresponses initiated by either rhodopsin or S-cone opsin
results show that UV-opsin suppression successively ceases in presence of the M-opsin activating background light, which implies that cone light adaptation is controlled at the opsin stage, before activation of transducin.
Thus, the three types of mouse opsin appear distinctive in the degree to which their bleached, unregenerated opsins generate "dark light."
alpha transducin and opsin have roles in mouse photoreceptor cell responses to light and dark
Molecular genetic analysis of the OPN1LW/OPN1MW gene cluster revealed a novel deletion of about 73 kb in the patient encompassing the LCR.
conformational characterization of the two deutan green cone opsin mutants N94K and R330Q; provide novel insights into the mechanism of green cone opsin alterations; results, on the disruptive effect of single point mutants, provide further evidence of the sophisticated network of structural interactions that underlay -and differentiate- rhodopsin and cone opsins functions
OPN1LW and OPN1MW restore M-cone function in a mouse model of human blue cone monochromacy.
By inserting five different thermostabilizing proteins (BRIL, T4L, PGS, RUB, and FLAV) into the recombinant green opsin sequence, constructs were created that were up to 9-fold more stable than WT.
Investigated 24 affected males with blue cone monochromacy from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We could establish intrachromosomal gene conversion in the male germline as underlying mechanism.
Findings show that mutation in OPN1MW underlie the cone dysfunction in all of the subjects tested, the color vision defect can be caused either by the same mutation or a gene rearrangement at the same locus.
Data suggest that OPN1MW exhibits a conserved Pro-Pro motif in extracellular loop 2 as observed in monostable visual G-protein-coupled receptors; comparison of deuterium uptake between inactive and active states of OPN1MW suggests a reduced solvent accessibility of the extracellular N-terminal region and an increased accessibility of the chromophore binding site.
Data suggest that insights into dimerization interface of red cone opsin should aid investigations of the structure and function of GPCR cell signaling.
The study reports on a different regeneration mechanism among red and green cone opsins with retinal analogs using UV-Vis/fluorescence spectroscopic analyses, molecular modeling and site-directed mutagenesis.
We identified 76 individuals with an L-M array. Four had exonic mutations, but the other 72 had no mutation in the exons or flanking introns. Sixty-nine of the 72 individuals had a -71A>C substitution in the M gene promoter.
Identification of one single red-green OPN1LW/MW hybrid gene harboring a point mutation that associates with blue cone monochromatism.
The photoreceptor phenotype associated with OPN1LW and OPN1MW mutations is highly variable. These findings have implications for the potential restoration of visual function in subjects with opsin mutations.
Missense mutatin in both OPN1LW and OPN1MW cause X-linked cone dystrophy.
Genomic rearrangements in the affected genes cause blue cone monochromatism.
Novel and known mutations affecting the L-M opsin gene array were identified in families with X-linked cone-dominated phenotypes.
Mutations in the LW/MW cone opsin gene array can, therefore, lead to a spectrum of disease, ranging from color blindness to progressive cone dystrophy (XLCOD5).
In Japanese males with congenital red/green color blindness the mutation Asn94Lys (AAC-->AAA) occurred in the single green gene of a deutan subject (A155); and Arg330Gln (CGA-->CAA) in both green genes of another, affecting protein folding and function
Abnormal distribution of cone green opsin is associated with autosomal dominant cone dystrophy
Results show that, although light absorption behaves differently in blue, green and red opsins, their low-frequency vibrational motions are similar.
11-cis-retinol inactivates expressed cone opsins, acting an inverse agonist
The apparent decline in opsin 1 opponency from superior to inferior retina is consistent with the dual gradient and a model where photoreceptor signals in both superior and inferior retina
This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness.
, green LWS photopigment
, green cone photoreceptor pigment
, green long wavelength sensitive cone opsin
, green-sensitive opsin
, medium wavelength-sensitive cone opsin
, medium-wave-sensitive opsin 1
, midwavelength sensitive opsin
, green sensitive cone opsin
, opsin CHK-1
, cone dystrophy 5 (X-linked)
, green cone pigment
, photopigment apoprotein
, opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan), green opsin
, green opsin
, opsin 1 (cone pigments), medium-wave-sensitive
, green-sensitive opsin-like