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| DEFECTIVE COLOR-VISION ASSOCIATED WITH A MISSENSE MUTATION IN THE HUMAN GREEN VISUAL PIGMENT GENE |
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| Author(s): WINDERICKX J, SANOCKI E, LINDSEY DT, TELLER DY, MOTULSKY AG, DEEB SS |
| Source: NATURE GENETICS Volume: 1 Issue: 4 Pages: 251-256 Published: JUL 1992 |
| Times Cited: 46 References: 34 |
| Abstract: All red/green colour vision defects described so far have been associated with gross rearrangements within the red/green opsin gene array (Xq28). We now describe a male with severe deuteranomaly without such a rearrangement. A substitution of a highly conserved cysteine by arginine at position 203 in the green opsins presumably accounted for his colour vision defect. Surprisingly, this mutation was fairly common (2%) in the population but apparently was not always expressed. In analogy with nonexpression of some 5'green-red hybrid genes in persons with normal colour vision, we suggest that failure of manifestation occurs when the mutant gene is located at a distal (3') position among several green opsin genes. This mutation might also predispose to certain X-linked retinal dystrophies. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV WASHINGTON, DEPT MED, SEATTLE, WA 98195 USA
2. UNIV WASHINGTON, DEPT PSYCHOL, SEATTLE, WA 98195 USA
3. UNIV WASHINGTON, DEPT PHYSIOL BIOPHYS, SEATTLE, WA 98195 USA
4. UNIV WASHINGTON, DEPT GENET, SEATTLE, WA 98195 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: JC984 |
| ISSN: 1061-4036 |
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