Редактирование: CNGA3

Cyclic nucleotide-gated cation channel alpha-3 (Cone photoreceptor cGMP-gated channel subunit alpha) (Cyclic nucleotide-gated channel alpha-3) (CNG channel alpha-3) (CNG-3) (CNG3) [CNCG3]

==Publications==

{{medline-entry
|title=DNA methylation-based age prediction from saliva: High age predictability by combination of 7 CpG markers.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/28419903
|abstract=DNA methylation is currently one of the most promising age-predictive biomarkers. Many studies have reported DNA methylation-based age predictive models, but most of these are based on DNA methylation patterns from blood. Only a few studies have examined age-predictive DNA patterns in saliva, which is one of the most frequently-encountered body fluids at crime scenes. In this study, we generated genome-wide DNA methylation profiles of saliva from 54 individuals and identified CpG markers that showed a high correlation between methylation and age. Because the age-associated marker candidates from saliva differed from those of blood, we investigated DNA methylation patterns of 6 age-associated CpG marker candidates (cg00481951, cg19671120, cg14361627, cg08928145, cg12757011, and cg07547549 of the [[SST]], [[CNGA3]], [[KLF14]], [[TSSK6]], [[TBR1]], and [[SLC12A5]] genes, respectively) in addition to a cell type-specific CpG marker (cg18384097 of the [[PTPN7]] gene) in an independent set of saliva samples obtained from 226 individuals aged 18 to 65 years. Multiplex methylation SNaPshot reactions were used to generate the data. We then generated a linear regression model with age information and the methylation profile from the 113 training samples. The model exhibited a 94.5% correlation between predicted and chronological age with a mean absolute deviation (MAD) from chronological age of 3.13 years. In subsequent validation using 113 test samples, we also observed a high correlation between predicted and chronological age (Spearman's rho=0.952, MAD from chronological age=3.15years). The model composed of 7 selected CpG sites enabled age prediction in saliva with high accuracy, which will be useful in saliva analysis for investigative leads.
|mesh-terms=* Adolescent
* Adult
* Aged
* Aging
* CpG Islands
* DNA Methylation
* Forensic Genetics
* Genetic Markers
* Humans
* Linear Models
* Middle Aged
* Nucleic Acid Hybridization
* Saliva
* Young Adult
|keywords=* Age
* DNA methylation
* HumanMethylation450 BeadChip
* SNaPshot
* Saliva
|full-text-url=https://sci-hub.do/10.1016/j.fsigen.2017.04.006
}}
{{medline-entry
|title=Long-term and age-dependent restoration of visual function in a mouse model of [[CNGB3]]-associated achromatopsia following gene therapy.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/21576125
|abstract=Mutations in the [[CNGB3]] gene account for >50% of all known cases of achromatopsia. Although of early onset, its stationary character and the potential for rapid assessment of restoration of retinal function following therapy renders achromatopsia a very attractive candidate for gene therapy. Here we tested the efficacy of an rAAV2/8 vector containing a human cone arrestin promoter and a human [[CNGB3]] cDNA in [[CNGB3]] deficient mice. Following subretinal delivery of the vector, [[CNGB3]] was detected in both M- and S-cones and resulted in increased levels of [[CNGA3]], increased cone density and survival, improved cone outer segment structure and normal subcellular compartmentalization of cone opsins. Therapy also resulted in long-term improvement of retinal function, with restoration of cone [[ERG]] amplitudes of up to 90% of wild-type and a significant improvement in visual acuity. Remarkably, successful restoration of cone function was observed even when treatment was initiated at 6 months of age; however, restoration of normal visual acuity was only possible in younger animals (e.g. 2-4 weeks old). This study represents achievement of the most substantial restoration of visual function reported to date in an animal model of achromatopsia using a human gene construct, which has the potential to be utilized in clinical trials.
|mesh-terms=* Aging
* Animals
* Arrestins
* Cell Survival
* Color Vision Defects
* Cyclic Nucleotide-Gated Cation Channels
* Disease Models, Animal
* Gene Transfer Techniques
* Genetic Therapy
* Genetic Vectors
* Humans
* Injections
* Mice
* Mice, Transgenic
* Opsins
* Organ Specificity
* Promoter Regions, Genetic
* Protein Transport
* Retina
* Retinal Cone Photoreceptor Cells
* Time Factors
* Vision, Ocular
* Visual Acuity

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140821
}}