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Optogenetics also necessarily includes the development of genetic targeting strategies such as cell-specific promoters or other customized conditionally-active viruses, to deliver the light-sensitive probes to specific populations of neurons in the brain of living animals (e.g. worms, fruit flies, mice, rats, and monkeys).
As of 2010, as many as 16 genes have been associated with eye color inheritance. Some of the eye-color genes include OCA2 and HERC2. [9] [10] The earlier belief that blue eye color is a recessive trait has been shown to be incorrect, and the genetics of eye color are so complex that almost any parent-child combination of eye colors can occur.
Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects adult males, and onset is more likely in younger adults.
6469 20423 Ensembl ENSG00000164690 ENSMUSG00000002633 UniProt Q15465 Q62226 RefSeq (mRNA) NM_000193 NM_001310462 NM_009170 RefSeq (protein) NP_000184 NP_001297391 NP_033196 Location (UCSC) Chr 7: 155.8 – 155.81 Mb Chr 5: 28.66 – 28.67 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Sonic hedgehog protein (SHH) is a major signaling molecule of embryonic development in humans and ...
Rhodopsin, also known as visual purple, is a protein encoded by the RHO gene [5] and a G-protein-coupled receptor (GPCR). It is a light-sensitive receptor protein that triggers visual phototransduction in rod cells. Rhodopsin mediates dim light vision and thus is extremely sensitive to light. [6]
The main symptom is loss of vision, with colors appearing subtly washed out in the affected eye. A pale disc is characteristic of long-standing optic neuropathy. In many cases, only one eye is affected and a person may not be aware of the loss of color vision until the examiner asks them to cover the healthy eye.
The seven transmembrane α-helical domains in opsins are connected by three extra-cellular and three cytoplasmic loops. Along the α-helices and the loops, many amino acid residues are highly conserved between all opsin groups, indicating that they serve important functions and thus are called functionally conserved residues.
The goal of gene therapy studies is to virally supplement retinal cells expressing mutant genes associated with the retinitis pigmentosa phenotype with healthy forms of the gene; thus, allowing the repair and proper functioning of retinal photoreceptor cells in response to the instructions associated with the inserted healthy gene.