Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic

作者：Carroll Joseph^*; Rossi Ethan A; Porter Jason; Neitz Jay; Roorda Austin; Williams David R; Neitz Maureen

来源：Vision Research, 2010, 50(19): 1989-1999.

DOI：10.1016/j.visres.2010.07.009

• Adaptive optics
• Blue cone monochromacy
• Color vision
• Cones
• Opsin
• Photopigment

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.

• 出版日期2010-9-15