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

Published online by Cambridge University Press:  03 July 2008

KAREN L. GUNTHER ,
JAY NEITZ  and
MAUREEN NEITZ
KAREN L. GUNTHER
Affiliation:
Department of Psychology, Wabash College, Crawfordsville, Indiana
JAY NEITZ
Affiliation:
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin
MAUREEN NEITZ*
Affiliation:
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin
*
Address correspondence and reprint requests to: Maureen Neitz, Department of Ophthalmology, Medical College of Wisconsin, 925 North 87thStreet, Milwaukee, WI 53226-4812. E-mail: mneitz@mcw.edu
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Abstract

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.

Keywords

Cone photoreceptorColor visionX-chromosomeCone opsinGenes
Type
Research Article
Information
Visual Neuroscience , Volume 25 , Issue 3 , May 2008 , pp. 265 - 271
Copyright
Copyright © Cambridge University Press 2008

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