An A−71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency

Ueyama, Hisao; Li, Yaohua; Fu, Guilian; Lertrit, Patcharee; Atchaneeyasakul, La-ongsri; Oda, Sanae; Tanabe, Shoko; Nishida, Yasuhiro; Yamade, Shinichi; Ohkubo, Iwao

doi:10.1073/pnas.0637437100

Cited by 27 publications

(30 citation statements)

References 25 publications

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“…8 The forward primers were FG; 14 SG2 (Table 1); SG (Table 1); DG4 10 and PF-1. 8 The reverse primer for all of these reactions was PR.…”

Section: Promoter and Enhancer Assaymentioning

confidence: 99%

“…8 The forward primers were FG; 14 SG2 (Table 1); SG (Table 1); DG4 10 and PF-1. 8 The reverse primer for all of these reactions was PR. 8 The enzyme used for this accurate PCR was KOD plus DNA polymerase (Toyobo, Osaka, Japan).…”

Section: Promoter and Enhancer Assaymentioning

confidence: 99%

“…3,[5][6][7] Of the 247 Japanese men with deutan deficiency that we studied, most of the arrays were either a single L gene or two (or more) L genes in tandem, but 37 men had normal gene-order arrays. 8 Of these 37 men, two had a missense mutation of Asn94Lys 9 or Arg330Gln 9 in the M gene, but the other 35 had no mutations in the exons or in the flanking introns of the M gene. The frequency of deutan individuals with a normal gene-order array, but without missense mutations was high (14%, 35/247).…”

Section: Introductionmentioning

confidence: 99%

“…Thirty-two men of the 35 men had a À71A-C substitution in the M gene promoter. 8 All of these 32 men had the substitution in the M gene occupying the second position of the array. However, none of the 98 color-normal men with a two-gene array of L-M had the substitution.…”

Section: Introductionmentioning

confidence: 99%

“…However, none of the 98 color-normal men with a two-gene array of L-M had the substitution. 8 There were two possibilities about the À71A-C substitution in the etiology of color-vision deficiency. One was that the genuine cause of the deficiency is present in the introns and that the substitution is in linkage disequilibrium with it.…”

Section: Introductionmentioning

confidence: 99%

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Analysis of introns and promoters of L/M visual pigment genes in relation to deutan color-vision deficiency with an array of normal gene orders

Ueyama

Tanabe²,

Muraki-Oda

et al. 2009

J Hum Genet

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Among the 447 Japanese men with deutan color-vision deficiency that we analyzed, 61 had a normal order array of L/M pigment genes. Three of the 61 men had an exonic mutation, but the other 58 had no mutations even in the flanking introns of their M genes. In these 58 men, 55 had a À71A-C substitution in the M gene. Two hypotheses were built up for the substitution: it is in linkage disequilibrium with a genuine cause of deficiency in the introns, or itself is the cause of the deficiency. For the first hypothesis, we sequenced entire regions of both the L and M genes in 30 color-normal Japanese men who had one each of the L and M genes to understand normal variations of the introns. Fifty-two already known and 15 newly identified polymorphic sites could be classified into three categories: those with no polymorphisms in the Japanese group, those essentially different between the L and the M genes, and the others. We then sequenced the entire region of the M genes in 12 representative deutan individuals with a normal gene-order array but found no significant mutations. For the second hypothesis, we performed a reporter assay and found that the M gene promoter with À71C had a 60-70% reduction in activity when compared to that with À71A. These results suggest that the À71A-C substitution is not in linkage disequilibrium with an intronic mutation, but the substitution itself may affect the transcription of the M gene, leading to deutan deficiency. The congenital color-vision deficiency that affects about 5% of Japanese men 1 includes dichromacy and anomalous trichromacy. Protan deficiency, which is associated with a lack of L cones in the retina, is the less frequent deficiency (about 25% of the cases) and involves both protanopia (dichromacy) and protanomaly (anomalous trichromacy). Deutan deficiency, which is associated with a lack of M cones in the retina, is the most frequent deficiency (about 75% of the cases) and involves both deuteranopia (dichromacy) and deuteranomaly (anomalous trichromacy). Tritan deficiency, which is associated with a lack of S cones in the retina, is rare.L cones express the L visual pigment and M cones express the M visual pigment. The genes for the L and M pigments are located in tandem on the human X chromosome, comprising an L/M visual pigment gene array. 2 In color-normal men, an L gene is present at the

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“…8 The forward primers were FG; 14 SG2 (Table 1); SG (Table 1); DG4 10 and PF-1. 8 The reverse primer for all of these reactions was PR.…”

Section: Promoter and Enhancer Assaymentioning

confidence: 99%

Section: Promoter and Enhancer Assaymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Analysis of introns and promoters of L/M visual pigment genes in relation to deutan color-vision deficiency with an array of normal gene orders

Ueyama

Tanabe²,

Muraki-Oda

et al. 2009

J Hum Genet

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Spectral Domain Optical Coherence Tomography and Adaptive Optics: Imaging Photoreceptor Layer Morphology to Interpret Preclinical Phenotypes

Rha

Dubis

Wagner-Schuman

et al. 2009

Retinal Degenerative Diseases

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Recent years have seen the emergence of advances in imaging technology that enable in vivo evaluation of the living retina. Two of the more promising techniques, spectral domain optical coherence tomography (SD-OCT) and adaptive optics (AO) fundus imaging provide complementary views of the retinal tissue. SD-OCT devices have high axial resolution, allowing assessment of retinal lamination, while the high lateral resolution of AO allows visualization of individual cells. The potential exists to use one modality to interpret results from the other. As a proof of concept, we examined the retina of a 32 year-old male, previously diagnosed with a red-green color vision defect. Previous AO imaging revealed numerous gaps throughout his cone mosaic, indicating that the structure of a subset of cones had been compromised. Whether the affected cells had completely degenerated or were simply morphologically deviant was not clear. Here an AO fundus camera was used to re-examine the retina (~6 years after initial exam) and SD-OCT to examine retinal lamination. The static nature of the cone mosaic disruption combined with the normal lamination on SD-OCT suggests that the affected cones are likely still present.

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An insertion/deletion TEX28 polymorphism and its application to analysis of red/green visual pigment gene arrays

Ueyama

Torii

Tanabe³

et al. 2004

J Hum Genet

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TEX28 gene (fTEX) is present immediately downstream of the red/green visual pigment gene array on the human X chromosome. Its pseudogene (pTEX) that lacks exon 1 is present within the array between pigment genes. We found that both fTEX and pTEX genes had a 697 bp insertion/deletion polymorphism in their introns 3. In color-normal male subjects, the frequency of the 697 bp region was 43% (40/94) in pTEX and 97% (91/94) in fTEX in the array of Red-pTEXGreen-fTEX and 10% (9/94) in pTEX and 87% (41/47) in fTEX in the array of Red-pTEX-Green-pTEX-GreenfTEX. These results suggest that normal arrays with multiple green genes may have arisen through gene duplication rather than unequal homologous crossover. In color-vision-deficient male subjects with a single-gene array, the frequency of the 697 bp region was 83% (25/ 30) in the array of Green-fTEX and 66% (74/112) in the array of Red-fTEX. In color-vision-deficient male subjects with a 2-gene array, the frequency of the region was 44% (16/36) in pTEX and 97% (35/36) in fTEX in the array of Green-pTEX-Green-fTEX and 75% (18/24) in pTEX and 92% (22/24) in fTEX in the array of Red-pTEX-Red-fTEX. These results suggest that 2-green-gene arrays have arisen through unequal homologous crossover between a normal 2-gene array and a single-green-gene array. With data from a longrange PCR method using the insertion/deletion polymorphism, we proposed a structure of the second gene of 3-gene arrays, Green-pTEX-Green-pTEXGreen-fTEX and Red-pTEX-Red-pTEX-Red-fTEX, in color-vision-deficient subjects.

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An A−71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency

Cited by 27 publications

References 25 publications

Analysis of introns and promoters of L/M visual pigment genes in relation to deutan color-vision deficiency with an array of normal gene orders

Analysis of introns and promoters of L/M visual pigment genes in relation to deutan color-vision deficiency with an array of normal gene orders

Spectral Domain Optical Coherence Tomography and Adaptive Optics: Imaging Photoreceptor Layer Morphology to Interpret Preclinical Phenotypes

An insertion/deletion TEX28 polymorphism and its application to analysis of red/green visual pigment gene arrays

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