Expression of L cone pigment gene subtypes in females.
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 LS180 and LA180 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.
Neitz
M
M
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee 53226-4812, USA. mneitz@mcw.edu
Kraft
T W
TW
Neitz
J
J
D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D005260:Female; D015870:Gene Expression; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017949:Retinal Cone Photoreceptor Cells / Q000502:physiology*; D012168:Retinal Pigments / Q000235:genetics*; D014960:X Chromosome
D012168:Retinal Pigments