Nucleotide polymorphisms upstream of the X-chromosome opsin gene array tune L:M cone ratio

In support of the long-held idea that cone ratio is genetically determined by variation linked to the X-chromosome opsin gene locus, the present study identified nucleotide differences in DNA segments containing regulatory regions of the L and M opsin genes that are associated with significant diffe...

Full description

Saved in:
Bibliographic Details
Published in:Visual neuroscience 2008-05, Vol.25 (3), p.265-271
Main Authors: GUNTHER, KAREN L., NEITZ, JAY, NEITZ, MAUREEN
Format: Article
Language:English
Subjects:
African Continental Ancestry Group - genetics
Base Sequence
Biological and medical sciences
Chromosomes, Human, X - genetics
Color vision
Cone opsin
Cone photoreceptor
DNA - genetics
DNA - isolation & purification
DNA Primers
European Continental Ancestry Group - genetics
Eye and associated structures. Visual pathways and centers. Vision
Fundamental and applied biological sciences. Psychology
Genes
Humans
Male
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Retinal Cone Photoreceptor Cells - physiology
Rod Opsins - genetics
Vertebrates: nervous system and sense organs
X-chromosome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:In support of the long-held idea that cone ratio is genetically determined by variation linked to the X-chromosome opsin gene locus, the present study identified nucleotide differences in DNA segments containing regulatory regions of the L and M opsin genes that are associated with significant differences in the relative number of L versus M cones. Specific haplotypes (combinations of genetic differences) were identified that correlated with high versus low L:M cone ratio. These findings are consistent with the biological principle that DNA sequence variations affect binding affinities for protein components of complexes that influence the relative probability that an L versus M opsin gene will be silenced during development, and in turn, produce variation in the proportion of L to M cones.
ISSN:0952-5238
1469-8714
DOI:10.1017/S0952523808080280