|
|||||
|
|
Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic |
|
| Authors: | Joseph Carroll Ethan A. Rossi Jason Porter Austin Roorda Maureen Neitz |
| Affiliation: | a Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI 53226, United States b Department of Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, United States c Department of Biophysics, Medical College of Wisconsin, Milwaukee, WI 53226, United States d School of Optometry, University of California Berkeley, Berkeley, CA 94720, United States e College of Optometry, University of Houston, Houston, TX 77204, United States f Department of Ophthalmology, University of Washington, Seattle, WA 98195, United States g Center for Visual Science, University of Rochester, Rochester, NY 14627, United States |
| 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. |
| Keywords: | BCM, blue cone monochromacy ERG, electroretinogram AO, adaptive optics AOSLO, adaptive optics scanning laser ophthalmoscope LCR, locus control region |
| 本文献已被 ScienceDirect 等数据库收录！ | |