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Lookup NU author(s): Professor Ted Sharpe
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Molecular genetic studies demonstrate that the human cone opsin gene array on the q-arm of the X-chromosome typically consists of one long-wave-sensitive (L) cone opsin gene and from one to several middle-wave-sensitive (M) cone opsin genes. Although the presence of the single L-cone opsin gene and at least one M-cone opsin gene is essential for normal red-green colour discrimination, the function of the additional M-cone opsin genes is still unclear. To investigate whether any variations in phenotype correlate with differences in the number of M-cone opsin genes, we selected 13 normal trichromat males, for whom four independent molecular techniques have exactly determined their number of M-cone opsin genes, ranging from one to four. Their phenotype was characterized by estimating their foveal L- to M-cone ratio from heterochromatic flicker photometric (HFP) thresholds, by measuring the wavelength corresponding to their 'unique yellow', and by determining their L- and M-cone modulation thresholds (CMTs). No correlation was found between these psychophysical measures and the number of M-cone opsin genes. Although, we found a reasonably good correlation between the L/M-cone ratios based on HFP and on CMT, we did not find any correlation between the estimated L/M-cone ratios and the settings of 'unique yellow'. Our results accord with previous molecular genetic studies that suggest that only the first two genes in the X-linked opsin gene array are expressed. © 2002 Published by Elsevier Science Ltd.
Author(s): Knau H, Kremers J, Schmidt H-J, Wolf S, Wissinger B, Sharpe LT
Publication type: Article
Publication status: Published
Journal: Vision Research
Year: 2002
Volume: 42
Issue: 15
Pages: 1888-1896
ISSN (print): 0042-6989
ISSN (electronic): 1878-5646
Publisher: Pergamon
URL: http://dx.doi.org/10.1016/S0042-6989(02)00054-8
DOI: 10.1016/S0042-6989(02)00054-8
PubMed id: 12128019
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