Expression of L cone pigment gene subtypes in females

Academic Article

Abstract

  • Spectral subtypes of L pigment are produced by a serine/alanine dimorphism at amino acid position 180. X-chromosomes that carry genes for the different subtypes occur with about equal frequency in normal men. Females have two X-chromosomes; thus, about 50% of women will inherit genes for both L pigment subtypes, although on different X-chromosomes. In these women, X-inactivation is expected to produce about equal numbers of L(S180) and L(A180) cones in addition to middle (M) and short (S) wavelength-sensitive cones to total four spectrally distinct cone types. Consistent with this expectation we found nearly equal expression of genes for two spectrally distinct subtypes of L pigment in five of nine female retinas examined.
  • Authors

    Digital Object Identifier (doi)

    Author List

  • Neitz M; Kraft TW; Neitz J
  • Start Page

  • 3221
  • End Page

  • 3225
  • Volume

  • 38
  • Issue

  • 21