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Vis Neurosci. 2008 May-Jun;25(3):265-71. doi: 10.1017/S0952523808080280.

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

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Department of Psychology, Wabash College, Crawfordsville, Indiana, USA.


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.

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