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Position of a ‘green–red’ hybrid gene in the visual pigment array determines colour-vision phenotype

Hayashi, Takaaki, Motulsky, Arno G., Deeb, Samir S.·1999·Nature Genetics
DOI 10.1038/8798
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Abstract

The X-linked red- and green-pigment genes are arranged in a head-to-tail tandem array. The colour-vision defect of deuteranomaly (in 5% of males of European descent) is associated with a 5'-green-red-3' visual-pigment hybrid gene, which may also exist in males with normal colour vision. To explain why males with a normal red, a normal green and a green-red hybrid gene may have either normal or deutan colour vision, we hypothesized that only the first two genes are expressed and deuteranomaly results only if the green-red hybrid gene occupies the second position and is expressed preferentially over normal green-pigment genes occupying more distal positions. We used long-range PCR amplification and studied 10 deutan males (8 deuteranomalous and 2 deuteranopic) with 3 visual pigment genes (red, green and green-red hybrid) to investigate whether position of the hybrid gene in the array determined gene expression. The green-red hybrid gene was always at the second position (and the first position was always occupied by the red gene). Conversely, in two men with red, green and green-red hybrid genes and normal colour vision, the hybrid gene occupied the third position. When pigment gene mRNA expression was assessed in post-mortem retinae of three men with the red, green and green-red genotype, the green-red hybrid gene was expressed only when located in the second position. We conclude that the green-red hybrid gene will only cause deutan defects when it occupies the second positio…

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  • Except in rare cases, only the first two genes in the opsin gene array are expressed.

    “only the first two genes in the array are expressed”

    From The genetics of normal and defective color vision (2011) · cites this paper as Hayashi, Motulsky & Deeb, 1999

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Research works printed but not linked: 26

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Metadata

Authors
Hayashi, T., Motulsky, A. G., & Deeb, S. S.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
1999-05
Volume
22
Issue
1
Pages
90-93
ISSN
  • 1061-4036
  • 1546-1718
DOI
10.1038/8798
Cited by
84
References
0
Language
en
Licence
www.springer.com/tdm (tdm)

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