Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.

@article{Ueyama2012UniqueHI,
  title={Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.},
  author={Hisao Ueyama and Sanae Muraki-Oda and S. Yamade and Shoko Tanabe and Takahiro Yamashita and Yoshinori Shichida and Hisakazu Ogita},
  journal={Biochemical and biophysical research communications},
  year={2012},
  volume={424 1},
  pages={152-7}
}
We have analyzed L/M visual pigment gene arrays in 119 Japanese men with protanopia color vision defect and found that five had a normal gene order of L-M. Among the five men, two (identified as A376 and A642) had apparently normal L genes. To clarify their L gene defect, the whole L or M gene from A376 and control subjects was cloned in an expression… CONTINUE READING