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Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope
Abstract
The hypothesis that dichromatic behavior on a clinical anomaloscope can be explained by the complement and arrangement of the long- (L) and middle-wavelength (M) pigment genes was tested. It was predicted that dichromacy is associated with an X-chromosome pigment gene array capable of producing only a single functional pigment type. The simplest case of this is when deletion has left only a single X-chromosome pigment gene. The production of a single L or M pigment type can also result from rearrangements in which multiple genes remain. Often, only the two genes at the 5′ end of the array are expressed; thus, dichromacy is also predicted to occur if one of these is defective or encodes a defective pigment, or if both of them encode pigments with identical spectral sensitivities. Subjects were 128 males who accepted the full range of admixtures of the two primary lights as matching the comparison light on a Neitz or Nagel anomaloscope. Strikingly, examination of the L and M pigment genes revealed a potential cause for a color-vision defect in all 128 dichromats. This indicates that the major component of color-vision deficiency could be attributed to alterations of the pigment genes or their regulatory regions in all cases, and the variety of gene arrangements associated with dichromacy is cataloged here. However, a fraction of the dichromats (17 out of 128; 13%) had genes predicted to encode pigments that would result in two populations of cones with different spectral sensitivities. Nine of the 17 were predicted to have two pigments with slightly different spectral peaks (usually ≤ 2.5 nm) and eight had genes which specified pigments identical in peak absorption, but different in amino acid positions previously associated with optical density differences. In other subjects, reported previously, the same small spectral differences were associated with anomalous trichromacy rather than dichromacy. It appears that when the spectral difference specified by the genes is very small, the amount of residual red–green color vision measured varies; some individuals test as dichromats, others test as anomalous trichromats. The discrepancy is probably partly attributable to testing method differences and partly to a difference in performance not perception, but it seems there must also be cases in which other factors, for example, cone ratio, contribute to a person's ability to extract a color signal from a small spectral difference.
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“There is a perfect correlation between the opsin gene specifying this combination and color vision phenotype, despite the fact that the arrays differ dramatically in the number of opsin genes, and in the identity of the gene that specifies the LIAVA combination.”
From The genetics of normal and defective color vision (2011) · cites this paper as Neitz et al., 2004
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“Males whose L opsin contains this deleterious combination are protanopes, males whose M opsin contains this combination are deuteranopes, males who have a single opsin gene on the X-chromosome that specifies this combination or for whom the first two opsin genes in the array specify this combination are blue cone monochromats.”
From The genetics of normal and defective color vision (2011) · cites this paper as Neitz et al., 2004
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“the LIAVA combination has never been found in a person without vision problems and it has been found on a variety of genetic backgrounds”
From The genetics of normal and defective color vision (2011) · cites this paper as Neitz et al., 2004
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“There is very good agreement between the deduced photopigment complement and color vision capabilities of people with color vision defects (Barbur, Rodriguez-Carmona, Harlow, Mancuso, Neitz & Neitz, 2008, Neitz et al., 1996, Neitz et al., 2004, Shevell et al., 1998).”
From The genetics of normal and defective color vision (2011) · cites this paper as Neitz et al., 2004
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“amino acid differences that shift the spectral peaks of the L and M cone photopigments”
From The genetics of normal and defective color vision (2011) · cites this paper as Neitz, Carroll, Renner, Knau, Werner & Neitz, 2004
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“The LIAVA combination is associated with the absence of cone function when specified either by an L or an M opsin gene.”
From The genetics of normal and defective color vision (2011) · cites this paper as Neitz et al., 2004
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“There is a very good correlation between deuteranomalous behavior in color vision tests and the magnitude of the spectral separation between the underlying L pigments; however, in some cases when people have very small spectral differences between their pigments, discrimination performance as measured by the range of anomaloscope settings accepted as a match is better than might be predicted from”
From The genetics of normal and defective color vision (2011) · cites this paper as Neitz et al., 2004
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Research works printed but not linked: 29
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The genetics of normal and defective color vision
Neitz, J., & Neitz, M. (2011) · Vision Research · doi:10.1016/j.visres.2010.12.002 · Cited by 377
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- Authors
- NEITZ, M., CARROLL, J., RENNER, A., KNAU, H., WERNER, J. S., & NEITZ, J.
- Venue
- Visual Neuroscience
- Publisher
- Maximum Academic Press
- Published
- 2004-05
- Volume
- 21
- Issue
- 3
- Pages
- 205-216
- ISSN
- 0952-5238
- 1469-8714
- Cited by
- 56
- References
- 0
- Language
- en
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