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

Journal of Human Genetics
Hisao UeyamaShinichi Yamade

Abstract

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-pTEX-Green-fTEX and 10% (9/94) in pTEX and 87% (41/47) in fTEX in the array of Red-pTEX-Green-pTEX-Green-fTEX. 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 cros...Continue Reading

References

Feb 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M Drummond-BorgA G Motulsky
Apr 11, 1986·Science·J NathansD S Hogness
Jun 1, 1997·Molecular Biology and Evolution·M NeiS Yokoyama
Jun 8, 2002·Biochemical and Biophysical Research Communications·Hisao UeyamaShinichi Yamade
Feb 22, 2003·Vision Research·Sanae OdaShinichi Yamade
Mar 11, 2003·Proceedings of the National Academy of Sciences of the United States of America·Hisao UeyamaIwao Ohkubo

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Citations

Dec 24, 2008·Optometry and Vision Science : Official Publication of the American Academy of Optometry·Terri L Young
Oct 3, 2006·PLoS Computational Biology·Leo Goodstadt, Chris P Ponting

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