Topographical cone photopigment gene expression in deutan-type red-green color vision defects

Kathryn Bollinger, Stacy A. Sjoberg, Maureen Neitz, Jay Neitz

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

Eye donors were identified who had X-chromosome photopigment gene arrays like those of living deuteranomalous men; the arrays contained two genes encoding long-wavelength sensitive (L) pigments as well as genes to encode middle-wavelength sensitive (M) photopigment. Ultrasensitive methods failed to detect the presence of M photopigment mRNA in the retinas of these deutan donors. This provides direct evidence that deuteranomaly is caused by the complete absence of M pigment mRNA. Additionally, for those eyes with mRNA corresponding to two different L-type photopigments, the ratio of mRNA from the first vs. downstream L genes was analyzed across the retinal topography. Results show that the pattern of first relative to downstream L gene expression in the deuteranomalous retina is similar to the pattern of L vs. M gene expression found in normal retinas.

Original languageEnglish (US)
Pages (from-to)135-145
Number of pages11
JournalVision Research
Volume44
Issue number2
DOIs
StatePublished - Jan 2004
Externally publishedYes

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Keywords

  • Color blindness
  • Deuteranomaly
  • Gene expression
  • Photopigment genes
  • Topography

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

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