Protan color vision deficiency with a unique order of green–red as the first two genes of a visual pigment array
| Autor: | Shoko Tanabe, Sanae Muraki-Oda, Shinichi Yamade, Iwao Ohkubo, Hisao Ueyama |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Adolescent Molecular Sequence Data Gene Dosage Color Color Vision Defects Biology Polymerase Chain Reaction Gene dosage Exon Intergenic region Japan Gene Order Gene expression Genetics Humans Gene Genetics (clinical) X chromosome Base Sequence Intron Exons Molecular biology Electrophoresis Gel Pulsed-Field Blotting Southern Retinal Pigments Color Perception |
| Zdroj: | Journal of Human Genetics. 51:686-694 |
| ISSN: | 1435-232X 1434-5161 |
| Popis: | Normal visual pigment gene arrays on the human X chromosome have a red gene at the first and a green gene at the second positions. More than half of the arrays have additional green genes downstream, but only the first two genes of the array are likely to be expressed in the retina. An array consisting of four genes in two Japanese participants, A121 and A447, was detected either by pulsed field gel electrophoresis and subsequent Southern hybridization or by single nucleotide primer extension reaction. In both participants, the first gene of the array was green, downstream genes were red and green, and the fourth gene was green. The red gene was determined to be at the second position by comparison of polymorphic sites among the intergenic regions that had been amplified by long-range PCR. Such an array with a reverse normal order of pigment genes, green-red as the first two, has never been reported before. They were expected to have normal color vision but showed protan deficiency (protanomaly), a phenotype lacking the red pigment. The red gene had no mutations in the exons and exon/intron boundaries, but had an A-71C substitution in the promoter in both participants. |
| Databáze: | OpenAIRE |
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