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Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic
Abstract
Blue-cone monochromacy (BCM) is an X-linked condition in which long- (L−) and middle- (M−) wavelength-sensitive cone function is absent. Due to the X-linked nature of the condition, female carriers are spared from a full manifestation of the associated defects but can show visual symptoms, including abnormal cone electroretinograms. Here we imaged the cone mosaic in four females carrying an L/M array with deletion of the locus control region, resulting in an absence of L/M opsin gene expression (effectively acting as a cone opsin knockout). On average, they had cone mosaics with reduced density and disrupted organization compared to normal trichromats. This suggests that the absence of opsin in a subset of cones results in their early degeneration, with X-inactivation the likely mechanism underlying phenotypic variability in BCM carriers.
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“The most common such mutation is the replacement of the cysteine residue at position 203 with the amino acid arginine.”
From The genetics of normal and defective color vision (2011) · cites this paper as Carroll et al., 2010
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Metadata
- Authors
- Carroll, J., Rossi, E. A., Porter, J., Neitz, J., Roorda, A., Williams, D. R., & Neitz, M.
- Venue
- Vision Research
- Publisher
- Elsevier BV
- Published
- 2010-09
- Volume
- 50
- Issue
- 19
- Pages
- 1989-1999
- ISSN
- 0042-6989
- PMC
- PMC3005209
- Cited by
- 49
- References
- 49
- Language
- en
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 1086 d)
- Funders
- National Eye Institute (F32-EY014749, R01-EY017607, R01-EY004367, R01-EY014375, R01-EY009620, R01-EY009303)
- Medical College of Wisconsin & University of Rochester
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