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Here, we report the identification of a novel isoform of human CNGA3 resulting from an in-frame alternative translation initiation site (TIS) 154 bp downstream of the first TIS. Results suggest that the short isoform is not able to compensate for the loss of the long isoform leaving the biological role of this variant unclear.
The c.1618G>A, p.Gly540Ser substitution in CNGA3 was identified as the causative mutation for a novel form of ACHM in Awassi sheep. Gene augmentation therapy restored vision in the affected sheep. This novel mutation provides a large-animal model that is valid for most human CNGA3 ACHM patients; the majority of them carry missense rather than premature-termination mutations.
Four mutations (c.1682G>A;p.G561E, c.139C>T;p.Q47*, c.784G>C;p.A282P, c.1116delC;p.V373*) represent novel mutations of CNGA3 reported herein for the first time in patients with Achromatopsia.
The two novel mutations found in the CNGA3 gene, c.997_998delGA and p.M424V, can cause complete achromatopsia. The vision of the patient was stationary until the third decade of life although the FAF was altered at the age of 22 years.
The c.955T>C change identified in large consanguineous Pakistani family represents the first variant of CNGA3 which was found to be responsible for the cone-rod dystrophy phenotype.
Among Israeli and Palestinian patients, CNGA3 mutations are the leading cause of achromatopsia. Retinal structural results support the candidacy of CNGA3 ACHM for clinical trials for therapy of cone photoreceptors.
CNGA3 mutation is the most frequent cause of achromatopsia in this cohort of patients. Ten novel mutations were identified in CNGA3.
Our results suggest that CNGA3 mutations are a common cause of cone-rod dystrophies and achromatopsia in the Chinese population.
Genetic testing revealed a common homozygous mutation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia.
CNGA3 alternative splicing may have evolved, in part, to tune the interactions between cone CNG channels and membrane-bound phosphoinositides.
The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R).
The biochemical feedback regulation of CNGA3 mutations in color blindness is reported.
These studies support a model in which intersubunit interactions control the sensitivity of cone CNG channels to regulation by phosphoinositides.
in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A
observed a nuclear translocation of apoptosis-inducing factor (AIF) and endonuclease G in CNGA3(-/-)/Nrl(-/-) and CNGB3(-/-)/Nrl(-/-) retinas, implying a mitochondrial insult in the endoplasmic reticulum stress-activated cell death process
We describe a novel S4 motif mutation of CNGA3 in a Pakistani family.
Two compound heterozygous mutations were identified in CNGA3 of this patient, c.829C>T p.R277C and c.1580T>G p.L527R; they were not observed in the normal population and cosegregated with the phenotype of achromatopsia in the patient's family.
Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia.
This is the second reported case of CNGA3 associated oligocone trichromacy (OT).
Data identified three novel mutations in the pore-forming region of CNGA3 (L363P, G367V, and E376K) in achromatopsia patients, and reduced macroscopic currents for channels with the mutations G367V, and E376K.
AAV8 with capsid Y-F and T-V mutations may be one of the most effective AAV vectors for long-term treatment in a naturally occurring mouse model of CNGA3 achromatopsia
CNGA3 expression restored cone function in in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia.
cGMP/protein kinase G signaling suppresses Itpr1 phosphorylation and promotes endoplasmic reticulum stress in photoreceptors of Cnga3-deficient mice.
Homologous to the human disease, CNGA3 deficient mice reveal a loss of cone specific functionality leading to degeneration of affected cone photoreceptors. (review)
This work investigated the functional modulation of cone CNG channel by exploring the channel-interacting proteins.
The results of this study indicated that cGMP accumulation in photoreceptors can itself exert cytotoxic effect in cones, independently of CNG channel activity and Ca(2+) influx.
Pull-down assays indicated that the binding to organ of Corti CNGA3 was attributable to the EMILIN1 intracellular sequence that follows a predicted transmembrane domain in the C-terminus
Cone CNG channel is a heterotetrameric complex likely at a stoichiometry of three CNGA3 and one CNGB3.
This study provided evidence that CNGA3 contributes in an inhibitory manner to the central sensitization of pain pathways during inflammatory pain as a target of NO/cGMP signaling.
The wild type and mutant CNGA3 were expressed in HEK293 cells, the channel's expression and cellular localization were examined by immunoblotting and immunofluorecences labeling, and activity of the channel was evaluated.
our data describe a so far unrecognized role of CNGA3 in modulation of hippocampal plasticity and amygdala-dependent fear memory
Data show that visual responses in TKO mice extend beyond the retina to encompass the lateral margins of the lateral geniculate nucleus and components of the visual cortex.
CNGA3 was strongly expressed in the Grueneberg ganglion and the expression of CNGA3 was confined to those cells that are responsive to coolness
R377W and F488L mutations in the C-terminus of CNGA3 cause the loss of functional activity of the channels
The results show that cone bipolar cells in CNGA3(-/-) mice form ectopic synapses with rods.
We demonstrate the association of photoreceptor CNG channels with membrane domains enriched in raft lipids and indicates, for the first time, that raft lipids modulate the plasma membrane localization and functional activity of photoreceptor CNG channels.
Thus this work provides the first biochemical evidence showing the inter-subunit interaction between CNGA3 and CNGB3 and the presence of heterotetrameric complexes of the native cone CNG channel in retina.
the S4 structural motif of CNGA3 is important for cellular processing of cone photoreceptor cyclic GMP-gated ion channels
This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described.
CNG channel alpha-3
, cone photoreceptor cGMP-gated channel alpha subunit
, cone photoreceptor cGMP-gated channel subunit alpha
, cyclic nucleotide-gated cation channel alpha-3
, cyclic nucleotide-gated channel alpha-3
, cyclic nucleotide-gated channel cone photoreceptor subunit alpha
, CNG channel 1
, alpha subunit of cone photoreceptor CNG-channel
, cyclic nucleotide gated channel alpha 3
, cyclic nucleotide gated channel alpha 3 protein
, cyclic nucleotide-gated cation channel alpha-3-like