Structure-function relationships in human red/green color vision

Deeb, Samir S.; Lindsey, Delwin T.; Winderickx, Joris; Sanocki, Elizabeth; Hibiya, Yuko; Teller, Davida Y.; Motulsky, Arno G.

doi:10.1007/978-94-011-1856-9_2

Cited by 6 publications

(11 citation statements)

References 7 publications

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“…First, the C allele was expressed in the retina ofindividual CV2819, who had only the one green opsin gene ( 5 amplified from cDNA (lanes 1), red plus green-specific exon 5 amplified from genomic DNA (lanes 2), and green-specific exon 5 amplified from cDNA (lanes 3). Genomic DNA of color-deficient subjects who had only one opsin gene in their arrays (5) was used to amplify the controls G(A), G(C), and red-specific exon 5 sequences shown on both ends of the gel. SSCP was performed essentially as described (10,11).…”

Section: Resultsmentioning

confidence: 99%

“…We observed that the frequency of 5' green-red hybrid genes is higher than the frequency of phenotypic color vision defects among Caucasians and in particular among Afro-Americans (8,9). Recently, we demonstrated unequivocally that 4 of 129 Caucasian males with anomaloscopically proven normal color vision had a 5' green-red hybrid gene in addition to normal red and green opsin genes (5). We also found an individual with normal color vision who had the critical C203R mutation in only one of his five green opsin genes (7).…”

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confidence: 84%

“…Southern blot analysis was used to determine the gross structure of the redgreen pigment gene array as described (4,5). Northern blot analysis (14) was used to characterize mRNA transcripts of the red and green pigment genes in retinal tissues.…”

Section: Methodsmentioning

confidence: 99%

“…Defects and anomalies in red/green color vision occur in =8% of the Caucasian male population. They are almost always associated with deletion of the green opsin genes or presence of 5' red-green or 5' green-red hybrid genes, most likely the result of unequal recombination between the highly homologous genes at this locus (4,5). Rarely, red/green color vision defects are associated with substitution of a conserved cysteine by an arginine residue at position 203 (C203R) in the green opsin (6,7).…”

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confidence: 99%

“…The amplified exon 2 was then subjected to SSCP analysis as described above. Number of green opsin genes in the X chromosome-linked gene array was estimated by densitometric analysis of autoradiographs of Southern blots as described (4,5). Numbers represent average ratio between intensities of restriction fragments derived from green opsin genes and those from red opsin gene.…”

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confidence: 99%

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Selective expression of human X chromosome-linked green opsin genes.

Winderickx

Battisti

Motulsky

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

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The human red and green photopignents are specified by genes on the long arm of the X chromosome (Xq28). In individuals with normal color vision, the locus was proposed to consist of a single red pigment gene upstream of one or more copies of green pigment genes. The presence of a single red pigment gene In the array was confirmed by demonstration of only one retinal mRNA transcript codin for the red opsin. In individuals with multiple green pigment genes, it is unknown whether all genes are expressed. We analyzed the sequence of red-and green-speciflc mRNA from retinas of individuals with multiple green pigment genes in comparison with the corresponding genomic DNA sequences. The data showed that only a single green pigment gene is expressed. We therefore suggest that a locus control-like element, already known to be located 3.8 kilobases upstream of the transcription initiation site of the red pigment gene, allows transcription of only a single copy of the green pigment genes, probably the most proximal copy. This finding provides an explanation for the not-infrequent presence of 5' green-red hybrid genes in individuals with normal color vision. Such hybrid genes are usually associated with defective color vision. We suggest that 5' green-red hybrid genes produce defective color vision only when their position in the gene array allows expression in the retinal cone cells.Normal human color vision is mediated by the red (longwavelength sensitive) and green (middle-wavelength sensitive) visual pigments present in the corresponding red-and green-sensitive cone cells of the retina. The genes that encode the apoproteins (opsins) ofthese pigments are located on the long arm of the X chromosome (q28) and are arranged in a head-to-tail tandem array with a single red opsin gene upstream of one or more copies of green opsin genes (1-3). Defects and anomalies in red/green color vision occur in

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Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 84%

Section: Methodsmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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Selective expression of human X chromosome-linked green opsin genes.

Winderickx

Battisti

Motulsky

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

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Screening copy number variations in 35 unsolved inherited retinal disease families

Liu,

Dai,

et al. 2024

Hum. Genet.

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The purpose of this study was to screen Copy Number Variations (CNVs) in 35 unsolved Inherited Retinal Dystrophy (IRD) families. Initially, next generation sequencing, including a specific Hereditary Eye Disease Enrichment Panel or Whole exome sequencing, was employed to screen (likely) pathogenic Single-nucleotide Variants (SNVs) and small Insertions and Deletions (indels) for these cases. All available SNVs and indels were further validated and co-segregation analyses were performed in available family members by Sanger sequencing. If not, after excluding deep intronic variants, Multiplex ligation-dependent probe amplification (MLPA), quantitative fluorescence PCR (QF-PCR) and Sanger sequencing were employed to screen CNVs. We determined that 18 probands who had heterozygous SNVs/indels or whose parents were not consanguineous but had homozygous SNVs/indels in autosomal recessive IRDs genes had CNVs in another allele of these genes, 11 families had disease-causing hemizygous CNVs in X-linked IRD genes, 6 families had (likely) pathogenic heterozygous CNVs in PRPF31 gene. Of 35 families, 33 different CNVs in 16 IRD-associated genes were detected, with PRPF31, EYS and USH2A the most common disease-causing gene in CNVs. Twenty-six and 7 of them were deletion and duplication CNVs, respectively. Among them, 14 CNVs were first reported in this study. Our research indicates that CNVs contribute a lot to IRDs, and screening of CNVs substantially increases the diagnostic rate of IRD. Our results emphasize that MLPA and QF-PCR are ideal methods to validate CNVs, and the novel CNVs reported herein expand the mutational spectrums of IRDs.

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Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis.

Sack

Alpern

Webster

et al. 1993

Proc. Natl. Acad. Sci. U.S.A.

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The relationship between X chromosomelinked adrenoleukodystrophy and the red/green color pigment gene cluster on Xq28 was investigated in a large kindred. The DNA in a hemizygous male showed altered restriction fragment sizes compatible with at least a deletion extending from the 5' end of the color pigment genes. Segregation analysis using a DNA probe within the color pigment gene cluster showed significant linkage with adrenoleukodystrophy (logarithm of odds score of 3.19 at 0 = 0.0). These data demonstrate linkage, rather than association, between a unique molecular rearrangement in the color pigment gene cluster and adrenoleukodystrophy. The DNA changes in this region are thus likely to be helpful for determining the location and identity of the responsible gene. After finding close genetic linkage between the polymorphic Xq28 probe DXS52 and ALD (2), we investigated the association between ALD and defective color vision. Although boys with ALD cannot be tested for their color vision because of rapid neurodegeneration, men with AMN are candidates for such analysis, and we found defective color vision in 42% (12 of 27 men) by using the FarnsworthMunsell 100-hue test (3,4). This finding led us to examine the red/green color pigment (R/GCP) gene cluster, which showed many reorganizations in ALD (5, 6) that differed from each other and from most common types of R/GCP gene changes in otherwise normal individuals (7,8).We proposed that this association reflects proximity of the ALD gene and the R/GCP gene cluster but we have not yet established this by formal genetic linkage analysis. Thus we have chosen to study potentially informative kindreds with a combination of molecular biologic and linkage analysis as well as psychophysical studies of color vision. We report here our studies on kindred "O" (5). Molecular analysis of the R/GCP gene region and formal segregation studies support the notion that a common genetic change underlies allThe publication costs of this article were defrayed in part by page charge payment. This article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. §1734 solely to indicate this fact. the manifestations in this kindred. Our companion paper (9) presents detailed studies of color vision in this important kindred. MATERIALS AND METHODSPatients. The extended kindred (identified as kindred 0 in ref. 5) was ascertained by an ALD proband (now deceased). After informed consent, blood was obtained from 19 kindred members. Clinical status was determined by VLCFA analysis (1).DNA. DNA was prepared from lymphoblast cell lines. Genomic DNA plugs (10) were stored in 0.5 M EDTA (pH 8) at 4°C. For enzyme digestion, 50-,ul plugs were dialyzed against 10 mM Tris-HCl/1 mM EDTA for 1 h at 23°C, equilibrated for 15 min in enzyme buffer, and then incubated with 10-20 units of enzyme for 4 h at 37°C.Transverse

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Structure-function relationships in human red/green color vision

Cited by 6 publications

References 7 publications

Selective expression of human X chromosome-linked green opsin genes.

Selective expression of human X chromosome-linked green opsin genes.

Screening copy number variations in 35 unsolved inherited retinal disease families

Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis.

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