OPN1SW Gene

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1		Lily Guo	+ 381 word(s)	381	2020-12-15 08:03:26

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/opn1sw

opsin 1, short wave sensitive

genes

1. Introduction

The OPN1SW gene provides instructions for making a protein that is essential for normal color vision. This protein is found in the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of light receptor cells, called rods and cones, that transmit visual signals from the eye to the brain. Rods provide vision in low light. Cones provide vision in bright light, including color vision. There are three types of cones. each containing a specific pigment (a photopigment called an opsin) that is most sensitive to particular wavelengths of light.

The OPN1SW gene provides instructions for making an opsin pigment that is more sensitive to light in the blue/violet part of the visible spectrum (short-wavelength light). Cones with this pigment are called short-wavelength-sensitive or S cones. In response to light, the photopigment triggers a series of chemical reactions within an S cone. These reactions ultimately alter the cell's electrical charge, generating a signal that is transmitted to the brain. The brain combines input from all three types of cones to produce normal color vision.

2. Health Conditions Related to Genetic Changes

2.1. Color vision deficiency

At least six mutations in the OPN1SW gene have been found to cause a relatively uncommon form of color vision deficiency called blue-yellow color vision defects or tritan defects. These defects cause problems with differentiating shades of blue and green and cause difficulty distinguishing dark blue from black. Each of the known OPN1SW gene mutations changes a single protein building block (amino acid) in the short-wave-sensitive photopigment, which causes the photopigment to be partially or totally nonfunctional. Researchers suggest that S cone cells without functional photopigment die prematurely or cannot transmit visual signals to the brain normally.

When OPN1SW gene mutations lead to completely nonfunctional S cones, color vision depends entirely on the other two types of cones. The specific type of blue-yellow color vision deficiency that results from a total loss of S cone function is called tritanopia. A less severe blue-yellow color vision defect called tritanomaly occurs when S cones function abnormally.

3. Other Names for This Gene

BCP
blue cone photoreceptor pigment
blue cone pigment
blue-sensitive opsin
BOP
OPSB_HUMAN
opsin 1 (cone pigments), short-wave-sensitive
S-pigment
short-wave-sensitive pigment

References

Baraas RC, Carroll J, Gunther KL, Chung M, Williams DR, Foster DH, Neitz M.Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-visiondeficiency. J Opt Soc Am A Opt Image Sci Vis. 2007 May;24(5):1438-47.
Baraas RC, Hagen LA, Dees EW, Neitz M. Substitution of isoleucine forthreonine at position 190 of S-opsin causes S-cone-function abnormalities. VisionRes. 2012 Nov 15;73:1-9. doi: 10.1016/j.visres.2012.09.007.
Calkins DJ. Seeing with S cones. Prog Retin Eye Res. 2001 May;20(3):255-87.Review.
Deeb SS. Molecular genetics of color-vision deficiencies. Vis Neurosci. 2004May-Jun;21(3):191-6. Review.
Gunther KL, Neitz J, Neitz M. A novel mutation in theshort-wavelength-sensitive cone pigment gene associated with a tritan colorvision defect. Vis Neurosci. 2006 May-Aug;23(3-4):403-9.
Neitz J, Neitz M. The genetics of normal and defective color vision. VisionRes. 2011 Apr 13;51(7):633-51. doi: 10.1016/j.visres.2010.12.002.

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Subjects: Genetics & Heredity

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Lily Guo

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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